Materiały źródłowe

• #1 Adrenoleukodystrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562328/

  Adrenoleukodystrophy is a rare genetic peroxisomal disorder characterized by the abnormal metabolism of very long-chain fatty acids (VLCFAs) due to mutations in the ABCD1 gene. […] Management focuses on early detection through newborn screening programs in some regions, followed by regular monitoring of VLCFA levels. Symptoms typically include progressive neurological dysfunction and adrenal insufficiency, which is managed with glucocorticoid and mineralocorticoid replacement therapies. […] This activity also highlights the crucial role of the multidisciplinary healthcare team in recognizing the symptoms of progressive neurological dysfunction and adrenal insufficiency through early diagnosis and in becoming familiar with current management strategies. […] Corticosteroid and mineralocorticoid replacement therapy is recommended for patients with impaired adrenal gland function.

• #2 Adrenoleukodystrophy (ALD) |

  https://www.huntershope.org/family-care/leukodystrophies/adrenoleukodystrophy/

  Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 17,000 people. […] Although there is currently no cure for adrenoleukodystrophy, the symptoms can be managed to ensure the best possible outcomes. With proactive, comprehensive medical care the symptoms of ALD can be managed and give the individual the best quality of life possible. […] No matter what form of Adrenoleukodystrophy an individual is diagnosed with, comprehensive medical care is of timely importance. […] Once a boy is diagnosed with cerebral ALD, it is crucial to undergo prompt evaluation in order to evaluate eligibility for a bone marrow transplant. […] If an individual is not eligible for transplant, proactive multidisciplinary care is essential to provide the best quality of life possible. There are a variety of therapies, adaptive equipment, and medications available for this very purpose. […] All families and caregivers of individuals affected by Leukodystrophy, whether they qualify for transplant or not, should seek the best quality care through the Leukodystrophy Care Network, or LCN.

• #3 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/adrenoleukodystrophy

  Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder that affects the brain and adrenal glands (small glands that produce important hormones in the body). This condition causes accumulation of harmful fatty acids in the blood stream, resulting in damage to myelin in the brain and spinal cord, as well as the adrenal glands. Myelin is the insulation around our nerves. The nervous system needs myelin to function properly. […] Currently, there is no complete cure for ALD, but there are treatments that significantly change the course of this disease. The following treatments are available: […] Many children with ALD develop adrenal insufficiency, which can be effectively treated with steroids. Adrenal insufficiency can be life threatening without treatment. Close follow-up with a doctor specialized in hormone therapy, or an endocrinologist, is helpful.

• #4 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Adrenoleukodystrophy is a rare genetic brain disorder that has been categorized into three different forms: childhood cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease. […] If you or your child has ALD, work with your primary care physician to create and maintain a treatment plan to ensure the best possible care. […] Having a treatment plan is important to ensure that you or your child receive the best possible care. ALD is a rare disease, and many physicians and clinicians may not be familiar with it. Having information readily available to give to them can improve the healthcare for you or your child. A treatment plan is also a good way to update changes to disease progression and necessary care. […] You should share the treatment plan with your healthcare providers to ensure they are up-to-date with current medications and treatments. A copy should also be available for any emergency room personnel in case of need.

• #5 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/pediatric-cerebral-adrenoleukodystrophy

  Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder that affects the brain and adrenal glands (small glands that produce important hormones in the body). This condition causes accumulation of harmful fatty acids in the blood stream, resulting in damage to myelin in the brain and spinal cord, as well as the adrenal glands. Myelin is the insulation around our nerves. The nervous system needs myelin to function properly. […] Early diagnosis and treatment are crucial for better chances of slowing the progression of CALD. […] Currently, there is no complete cure for ALD, but there are treatments that significantly change the course of this disease. […] Many children with ALD develop adrenal insufficiency, which can be effectively treated with steroids. Adrenal insufficiency can be life threatening without treatment. Close follow-up with a doctor specialized in hormone therapy, or an endocrinologist, is helpful.

• #6 Adrenoleukodystrophy: a nursing challenge – PubMed

  https://pubmed.ncbi.nlm.nih.gov/2724061/

  Adrenoleukodystrophy has only recently been recognized as a disorder unique to children. Its debilitating sequelae have a profound impact on the physical, psychosocial, and cognitive development of children. […] This article focuses on nursing’s contribution to facilitating children’s adaptation to the stressors of a progressive disorder, adrenoleukodystrophy, and hospitalization. Utilizing a developmental approach, the psychosocial needs of these children are addressed in a format based on the nursing process.

• #7 Adrenoleukodystrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562328/

  Given the multiple organs affected and the diverse needs of patients with adrenoleukodystrophy, an interprofessional team approach is recommended. This healthcare team should include, at a minimum, endocrinologists, neurologists, geneticists, and psychologists. […] Providing patient-centered care for individuals with adrenoleukodystrophy requires a collaborative effort among healthcare professionals, including physicians, advanced practice practitioners, nurses, and pharmacists. […] Effective interprofessional communication fosters a collaborative environment where information is shared, questions are encouraged, and concerns are addressed promptly. […] Lastly, care coordination is pivotal in ensuring seamless and efficient patient care.

• #8 Building an Adrenoleukodystrophy (ALD) Care Team

  https://www.navigatingald.com/living-with-ald

  In order to manage your childs health and to help monitor for potential progression to cerebral adrenoleukodystrophy, your family may choose to work with a select group of health care professionals (also referred to as a care team). You can help take control of your childs experience with ALD by building a plan that works for you and your family. […] A neurologist or ALD specialist will monitor your child for cerebral ALD through regular magnetic resonance imaging (MRI) scans. They will also consult with you and the rest of your care team if any signs of cerebral ALD are detected. Neurologists can help coordinate care and resources to help you and your family manage ALD. […] Your childs pediatrician, nurses, social workers and other health care professionals may be part of your care team as well. If your child experiences any mobility issues, you may be referred to a physical therapist. Your doctor may also recommend a nutritionist to work with your child to help manage ALD.

• #9 Adrenoleukodystrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562328/

  Given the multiple organs affected and the diverse needs of patients with adrenoleukodystrophy, an interprofessional team approach is recommended. This healthcare team should include, at a minimum, endocrinologists, neurologists, geneticists, and psychologists. […] Providing patient-centered care for individuals with adrenoleukodystrophy requires a collaborative effort among healthcare professionals, including physicians, advanced practice practitioners, nurses, and pharmacists. […] Effective interprofessional communication fosters a collaborative environment where information is shared, questions are encouraged, and concerns are addressed promptly. […] Lastly, care coordination is pivotal in ensuring seamless and efficient patient care.

• #10 Building an Adrenoleukodystrophy (ALD) Care Team

  https://www.navigatingald.com/living-with-ald

  In order to manage your childs health and to help monitor for potential progression to cerebral adrenoleukodystrophy, your family may choose to work with a select group of health care professionals (also referred to as a care team). You can help take control of your childs experience with ALD by building a plan that works for you and your family. […] A neurologist or ALD specialist will monitor your child for cerebral ALD through regular magnetic resonance imaging (MRI) scans. They will also consult with you and the rest of your care team if any signs of cerebral ALD are detected. Neurologists can help coordinate care and resources to help you and your family manage ALD. […] Your childs pediatrician, nurses, social workers and other health care professionals may be part of your care team as well. If your child experiences any mobility issues, you may be referred to a physical therapist. Your doctor may also recommend a nutritionist to work with your child to help manage ALD.

• #11 Building an Adrenoleukodystrophy (ALD) Care Team

  https://www.navigatingald.com/living-with-ald

  This extended care team may provide what is referred to as palliative care. Palliative care is a type of supportive care for someone with an ongoing illness, regardless of stage or prognosis. This team may help to connect you to resources and further education when needed. […] Managing ALD is possible with an ALD care team and a plan. Once you have a team in place, you can partner with them to build a care plan that works for you and your family. […] Your care team will be there to provide you with advice and support. But beyond that, there is an entire ALD community that is here to help you.

• #12 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Adrenoleukodystrophy is a rare genetic brain disorder that has been categorized into three different forms: childhood cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease. […] If you or your child has ALD, work with your primary care physician to create and maintain a treatment plan to ensure the best possible care. […] Having a treatment plan is important to ensure that you or your child receive the best possible care. ALD is a rare disease, and many physicians and clinicians may not be familiar with it. Having information readily available to give to them can improve the healthcare for you or your child. A treatment plan is also a good way to update changes to disease progression and necessary care. […] You should share the treatment plan with your healthcare providers to ensure they are up-to-date with current medications and treatments. A copy should also be available for any emergency room personnel in case of need.

• #13 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Adrenoleukodystrophy is a rare genetic brain disorder that has been categorized into three different forms: childhood cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease. […] If you or your child has ALD, work with your primary care physician to create and maintain a treatment plan to ensure the best possible care. […] Having a treatment plan is important to ensure that you or your child receive the best possible care. ALD is a rare disease, and many physicians and clinicians may not be familiar with it. Having information readily available to give to them can improve the healthcare for you or your child. A treatment plan is also a good way to update changes to disease progression and necessary care. […] You should share the treatment plan with your healthcare providers to ensure they are up-to-date with current medications and treatments. A copy should also be available for any emergency room personnel in case of need.

• #14 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Your child’s treatment plan should also be shared with their school or daycare. Any administrators, teachers, and nurses should have a copy of the plan. This will ensure they know what care they may need to provide during the day, and what to do in case of any disease- or treatment-related issues. […] You should review and update the treatment plan as necessary after each doctor’s appointment. ALD is a progressive disease and symptoms are likely to worsen over time. Keeping the plan up-to-date and sharing any changes with everyone involved will help ensure you or your child continue to receive the proper care.

• #15 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Your child’s treatment plan should also be shared with their school or daycare. Any administrators, teachers, and nurses should have a copy of the plan. This will ensure they know what care they may need to provide during the day, and what to do in case of any disease- or treatment-related issues. […] You should review and update the treatment plan as necessary after each doctor’s appointment. ALD is a progressive disease and symptoms are likely to worsen over time. Keeping the plan up-to-date and sharing any changes with everyone involved will help ensure you or your child continue to receive the proper care.

• #16 How is ALD Monitored & Managed? | It Might Be ALD

  https://www.itmightbeald.com/ald-monitoring-management

  Vigilant MRI monitoring can help identify progression to cerebral adrenoleukodystrophy (ALD). Cerebral ALD is a rapidly progressing, life-threatening disease that should be diagnosed as early as possible to help prevent irreversible brain damage. It involves the destruction of the myelin sheath that protects nerve cells in the brain. If left undiagnosed and untreated, the progression of cerebral ALD is rapid, causing severe loss of neurologic functions including loss of cognition, vision, hearing, and motor function. Ultimately cerebral ALD results in death. Regular MRI scans in boys diagnosed with ALD are critical to detect white matter changes indicative of progression to cerebral ALD. […] White matter changes on MRI precede the onset of symptoms, so MRI monitoring is critical as it can detect progression to cerebral ALD before any symptoms arise.

• #17 How is ALD Monitored & Managed? | It Might Be ALD

  https://www.itmightbeald.com/ald-monitoring-management

  Vigilant MRI monitoring can help identify progression to cerebral adrenoleukodystrophy (ALD). Cerebral ALD is a rapidly progressing, life-threatening disease that should be diagnosed as early as possible to help prevent irreversible brain damage. It involves the destruction of the myelin sheath that protects nerve cells in the brain. If left undiagnosed and untreated, the progression of cerebral ALD is rapid, causing severe loss of neurologic functions including loss of cognition, vision, hearing, and motor function. Ultimately cerebral ALD results in death. Regular MRI scans in boys diagnosed with ALD are critical to detect white matter changes indicative of progression to cerebral ALD. […] White matter changes on MRI precede the onset of symptoms, so MRI monitoring is critical as it can detect progression to cerebral ALD before any symptoms arise.

• #18 Adrenoleukodystrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/diagnosis-treatment/drc-20369160

  Our caring team of Mayo Clinic experts can help you with your adrenoleukodystrophy-related health concerns […] Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression. […] Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy). […] Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor may recommend wheelchairs and other mobility devices if needed.

• #19 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/adrenoleukodystrophy

  Every child identified with ALD through the newborn screening must receive standardized neurologic monitoring throughout childhood that includes blood work and brain MRIs. This allows clinicians to see changes in the brain before the child shows any physical symptoms. This also allows treatment of adrenal insufficiency, which can be life threatening. If the care team sees anything concerning, they can provide personalized intervention immediately before a child has permanent injury to their brain. Targeted treatment of CALD has the best outcome when performed on an individual before symptoms are clinically visible.

• #20 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/pediatric-cerebral-adrenoleukodystrophy

  Every child identified with ALD through the newborn screening must receive standardized neurologic monitoring throughout childhood that includes blood work and brain MRIs. This allows clinicians to see changes in the brain before the child shows any physical symptoms. This also allows treatment of adrenal insufficiency, which can be life threatening. If the care team sees anything concerning, they can provide personalized intervention immediately before a child has permanent injury to their brain. Targeted treatment of CALD has the best outcome when performed on an individual before symptoms are clinically visible.

• #21 Adrenoleukodystrophy (ALD) Symptoms, Doctors, Treatments, Advances & More | MediFind

  https://www.medifind.com/conditions/adrenoleukodystrophy-ald/139

  Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones. […] A specific treatment for X-linked ALD is not available. A bone marrow transplant may stop worsening of the condition. […] Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life.

• #22 How is ALD Monitored & Managed? | It Might Be ALD

  https://www.itmightbeald.com/ald-monitoring-management

  Early diagnosis of ALD, along with regular monitoring by a neurologist, can enable treatment before severe and irreversible brain damage occurs. Even in the absence of symptoms, regular MRI monitoring is critical, as scans may reveal abnormalities prior to the detection of any cognitive dysfunction. […] Once a child has been diagnosed with ALD, it’s important that they see a neurologist for screening for brain changes that are part of the disease. Regular MRI monitoring is critical for detecting the progression to cerebral ALD. […] After diagnosis, it’s important to work with an integrated team of physicians, including a pediatric endocrinologist, a neurologist, a metabolic and genetic specialist, and a transplant team, to carefully monitor and help detect any signs of progression to cerebral ALD.

• #23 How is ALD Monitored & Managed? | It Might Be ALD

  https://www.itmightbeald.com/ald-monitoring-management

  Early diagnosis of ALD, along with regular monitoring by a neurologist, can enable treatment before severe and irreversible brain damage occurs. Even in the absence of symptoms, regular MRI monitoring is critical, as scans may reveal abnormalities prior to the detection of any cognitive dysfunction. […] Once a child has been diagnosed with ALD, it’s important that they see a neurologist for screening for brain changes that are part of the disease. Regular MRI monitoring is critical for detecting the progression to cerebral ALD. […] After diagnosis, it’s important to work with an integrated team of physicians, including a pediatric endocrinologist, a neurologist, a metabolic and genetic specialist, and a transplant team, to carefully monitor and help detect any signs of progression to cerebral ALD.

• #24 How is ALD Monitored & Managed? | It Might Be ALD

  https://www.itmightbeald.com/ald-monitoring-management

  An integrated care team can offer specialized resources designed to help manage ALD. […] Early diagnosis of ALD, along with regular monitoring, can help neurologists initiate treatment before severe and irreversible brain damage occurs. If and when cerebral symptoms develop, it is critical that patients work together with their neurologist to determine next steps.

• #25 Adrenoleukodystrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/diagnosis-treatment/drc-20369160

  Our caring team of Mayo Clinic experts can help you with your adrenoleukodystrophy-related health concerns […] Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression. […] Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy). […] Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor may recommend wheelchairs and other mobility devices if needed.

• #26 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/pediatric-cerebral-adrenoleukodystrophy

  Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder that affects the brain and adrenal glands (small glands that produce important hormones in the body). This condition causes accumulation of harmful fatty acids in the blood stream, resulting in damage to myelin in the brain and spinal cord, as well as the adrenal glands. Myelin is the insulation around our nerves. The nervous system needs myelin to function properly. […] Early diagnosis and treatment are crucial for better chances of slowing the progression of CALD. […] Currently, there is no complete cure for ALD, but there are treatments that significantly change the course of this disease. […] Many children with ALD develop adrenal insufficiency, which can be effectively treated with steroids. Adrenal insufficiency can be life threatening without treatment. Close follow-up with a doctor specialized in hormone therapy, or an endocrinologist, is helpful.

• #27 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  ALD is a progressive disease. Treatments aim to slow the progression and improve peoples quality of life. […] Treatment focuses on slowing the diseases progression and improving symptoms. […] Treatment options depend on the type of ALD and symptoms. Treatments include: Adrenal hormone treatment: People with ALD need regular adrenal function testing. Corticosteroid replacement therapy can help treat adrenal insufficiency. […] Stem cell transplant: Transplant is the only treatment that can slow the progression of ALD in children. If doctors diagnose ALD early enough, a transplant may stop the disease. […] Providers can prescribe medications to help with symptoms such as seizures or muscle stiffness. […] Other supportive treatments include: Physical therapy. Psychological support. Special education.

• #28 Adrenoleukodystrophy | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/adrenoleukodystrophy

  Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder that affects the brain and adrenal glands (small glands that produce important hormones in the body). This condition causes accumulation of harmful fatty acids in the blood stream, resulting in damage to myelin in the brain and spinal cord, as well as the adrenal glands. Myelin is the insulation around our nerves. The nervous system needs myelin to function properly. […] Currently, there is no complete cure for ALD, but there are treatments that significantly change the course of this disease. The following treatments are available: […] Many children with ALD develop adrenal insufficiency, which can be effectively treated with steroids. Adrenal insufficiency can be life threatening without treatment. Close follow-up with a doctor specialized in hormone therapy, or an endocrinologist, is helpful.

• #29 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  ALD is a progressive disease. Treatments aim to slow the progression and improve peoples quality of life. […] Treatment focuses on slowing the diseases progression and improving symptoms. […] Treatment options depend on the type of ALD and symptoms. Treatments include: Adrenal hormone treatment: People with ALD need regular adrenal function testing. Corticosteroid replacement therapy can help treat adrenal insufficiency. […] Stem cell transplant: Transplant is the only treatment that can slow the progression of ALD in children. If doctors diagnose ALD early enough, a transplant may stop the disease. […] Providers can prescribe medications to help with symptoms such as seizures or muscle stiffness. […] Other supportive treatments include: Physical therapy. Psychological support. Special education.

• #30 Adrenoleukodystrophy (ALD) | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/adrenoleukodystrophy/

  Care of children with ALD will require the input from many different health care professionals. Patients with ALD are managed in the inherited metabolic disorders clinic by specialists in metabolic medicine. Input from endocrinology teams in monitoring and treating adrenal insufficiency will be important. Neurology teams will provide input for those who have problems from cALD and (later in life) from adrenomyeloneuropathy. The Bone Marrow Transplant (BMT) team will be involved if this treatment is required. Input from other teams including physiotherapy, speech and language therapy, dietitians and psychologists will also be important. […] For boys who develop advanced forms of cerebral ALD, input from specialist symptom care or palliative care teams will also be important. […] Adrenal insufficiency can be treated by giving replacement hormones (which are essential for life). […] For boys who already have advanced stages of cALD when the diagnosis is first made, BMT/HSCT and gene therapy will not be suitable. In that situation, high-quality symptom care management will be important to address all the problems that ALD can cause.

• #31 Adrenoleukodystrophy – United Leukodystrophy Foundation

  https://ulf.org/leukodystrophies/adrenoleukodystrophy/

  1. The first treatment deals with the replacement of the faulty adrenal function often present in X-ALD. The adrenal glands are next to the kidney, and produce certain important hormones. If the adrenal functions are not properly functioning, these hormones need to be replaced. If adrenal function is reduced, provide replacement therapy. […] 3. Bone marrow transplantation. This is the most successful treatment for X-ALD so far identified. However, it must be noted that bone marrow transplantation has not been successful in patients with advanced neurological involvement, but only in patients in earlier stages of the disease. […] The identification of the gene that is mutated in X-ALD is a great step forward in the study of this disease. Gene therapy becomes a possibility, which is a method by which the defective gene is replaced by a functional copy of the gene. This type of therapy is currently being studied in animal models of X-ALD.

• #32 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  ALD is a progressive disease. Treatments aim to slow the progression and improve peoples quality of life. […] Treatment focuses on slowing the diseases progression and improving symptoms. […] Treatment options depend on the type of ALD and symptoms. Treatments include: Adrenal hormone treatment: People with ALD need regular adrenal function testing. Corticosteroid replacement therapy can help treat adrenal insufficiency. […] Stem cell transplant: Transplant is the only treatment that can slow the progression of ALD in children. If doctors diagnose ALD early enough, a transplant may stop the disease. […] Providers can prescribe medications to help with symptoms such as seizures or muscle stiffness. […] Other supportive treatments include: Physical therapy. Psychological support. Special education.

• #33 Adrenoleukodystrophy – United Leukodystrophy Foundation

  https://ulf.org/leukodystrophies/adrenoleukodystrophy/

  1. The first treatment deals with the replacement of the faulty adrenal function often present in X-ALD. The adrenal glands are next to the kidney, and produce certain important hormones. If the adrenal functions are not properly functioning, these hormones need to be replaced. If adrenal function is reduced, provide replacement therapy. […] 3. Bone marrow transplantation. This is the most successful treatment for X-ALD so far identified. However, it must be noted that bone marrow transplantation has not been successful in patients with advanced neurological involvement, but only in patients in earlier stages of the disease. […] The identification of the gene that is mutated in X-ALD is a great step forward in the study of this disease. Gene therapy becomes a possibility, which is a method by which the defective gene is replaced by a functional copy of the gene. This type of therapy is currently being studied in animal models of X-ALD.

• #34 Adrenoleukodystrophy (ALD) | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/adrenoleukodystrophy/

  Care of children with ALD will require the input from many different health care professionals. Patients with ALD are managed in the inherited metabolic disorders clinic by specialists in metabolic medicine. Input from endocrinology teams in monitoring and treating adrenal insufficiency will be important. Neurology teams will provide input for those who have problems from cALD and (later in life) from adrenomyeloneuropathy. The Bone Marrow Transplant (BMT) team will be involved if this treatment is required. Input from other teams including physiotherapy, speech and language therapy, dietitians and psychologists will also be important. […] For boys who develop advanced forms of cerebral ALD, input from specialist symptom care or palliative care teams will also be important. […] Adrenal insufficiency can be treated by giving replacement hormones (which are essential for life). […] For boys who already have advanced stages of cALD when the diagnosis is first made, BMT/HSCT and gene therapy will not be suitable. In that situation, high-quality symptom care management will be important to address all the problems that ALD can cause.

• #35 Adrenoleukodystrophy – United Leukodystrophy Foundation

  https://ulf.org/leukodystrophies/adrenoleukodystrophy/

  1. The first treatment deals with the replacement of the faulty adrenal function often present in X-ALD. The adrenal glands are next to the kidney, and produce certain important hormones. If the adrenal functions are not properly functioning, these hormones need to be replaced. If adrenal function is reduced, provide replacement therapy. […] 3. Bone marrow transplantation. This is the most successful treatment for X-ALD so far identified. However, it must be noted that bone marrow transplantation has not been successful in patients with advanced neurological involvement, but only in patients in earlier stages of the disease. […] The identification of the gene that is mutated in X-ALD is a great step forward in the study of this disease. Gene therapy becomes a possibility, which is a method by which the defective gene is replaced by a functional copy of the gene. This type of therapy is currently being studied in animal models of X-ALD.

• #36 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  The mothers also spoke of their hopes for a new treatment alternative to HSCT. Gene therapy using lentiviral vectors for ALD has shown safety and efficacy and is expected to be utilized in the future. […] As ALD progresses, patients use a variety of support in addition to hospitalization, including day services, residential facilities, and home nursing care. However, it became clear that there were challenges in assessing these services, particularly in coordinating their use. […] Schools play an essential role in supporting children with ALD. […] The mothers wanted to work with the school and teachers to make their children comfortable. Notably, some schools were accommodating for children with disabilities by adding handrails and creating discussion forums. However, mothers were concerned that their children would be affected by any trouble with the school and adjusted how they interacted with the school accordingly.

• #37 Adrenoleukodystrophy and Adrenomyeloneuropathy – Stanford Medicine Children’s Health

  https://www.stanfordchildrens.org/en/services/neuro-immunology/ald.html

  X-linked ALD occurs when myelin, the fatty protective substance that surrounds nerve cells, breaks down. […] Early monitoring and treatment for ALD is essential, as many symptoms are treatable if caught early. […] Boys with ALD usually receive regular MRIs, enabling doctors to identify the early stages of CALD and start treatment immediately. […] The Pediatric Neuro-Immunology Clinics Clinical Care and Research Program for ALD and AMN is a special program that offers clinical trials, often available through the Van Haren Lab, for the treatment of ALD and AMN. […] The goal for treating CALD is to halt the progression of the disease as quickly and safely as possible, which is why it is important to start treatment early. […] Stanford Medicine Childrens Health is one of only four locations nationally to offer gene therapy for ALD.

• #38 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  ALD is a progressive disease. Treatments aim to slow the progression and improve peoples quality of life. […] Treatment focuses on slowing the diseases progression and improving symptoms. […] Treatment options depend on the type of ALD and symptoms. Treatments include: Adrenal hormone treatment: People with ALD need regular adrenal function testing. Corticosteroid replacement therapy can help treat adrenal insufficiency. […] Stem cell transplant: Transplant is the only treatment that can slow the progression of ALD in children. If doctors diagnose ALD early enough, a transplant may stop the disease. […] Providers can prescribe medications to help with symptoms such as seizures or muscle stiffness. […] Other supportive treatments include: Physical therapy. Psychological support. Special education.

• #39 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  ALD is a progressive disease. Treatments aim to slow the progression and improve peoples quality of life. […] Treatment focuses on slowing the diseases progression and improving symptoms. […] Treatment options depend on the type of ALD and symptoms. Treatments include: Adrenal hormone treatment: People with ALD need regular adrenal function testing. Corticosteroid replacement therapy can help treat adrenal insufficiency. […] Stem cell transplant: Transplant is the only treatment that can slow the progression of ALD in children. If doctors diagnose ALD early enough, a transplant may stop the disease. […] Providers can prescribe medications to help with symptoms such as seizures or muscle stiffness. […] Other supportive treatments include: Physical therapy. Psychological support. Special education.

• #40 Adrenoleukodystrophy – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/adrenoleukodystrophy/diagnosis-treatment/drc-20369160

  Our caring team of Mayo Clinic experts can help you with your adrenoleukodystrophy-related health concerns […] Adrenoleukodystrophy has no cure. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. Doctors will focus on relieving your symptoms and slowing disease progression. […] Many people who have ALD develop adrenal insufficiency and need to have regular adrenal gland testing. Adrenal insufficiency can be treated effectively with steroids (corticosteroid replacement therapy). […] Physical therapy may help relieve muscle spasms and reduce muscle rigidity. Your doctor may recommend wheelchairs and other mobility devices if needed.

• #41 Adrenoleukodystrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/adrenoleukodystrophy

  Other treatments include medication to help relieve symptoms like stiffness and seizures, and physical therapy, which can help relieve muscle spasms and reduce muscle rigidity. […] Children with childhood cerebral ALD (cALD) will have ongoing neurological deterioration. Unless HCT (stem cell bone marrow transplantation) is done early, the child will continue to lose neurologic abilities. […] Addison disease can be managed through regular testing and treatment with replacement corticosteroid.

• #42 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Caring for a Child With Adrenoleukodystrophy […] A rare disease diagnosis is often shocking, and it means making life changes. An adrenoleukodystrophy (ALD) diagnosis is no exception. Because this condition typically impacts children, parents have to make changes to their lives as well. Adrenoleukodystrophy News is here to help this process and give advice and information on raising a child with ALD. […] There are a number of things that should constantly be kept in mind when raising a child with ALD to ensure that everyone is best prepared for the future. Firstly, parents should educate themselves on the condition itself, including the symptoms and progression. They should also be aware of treatment options. For example, a stem cell transplant is the standard of care, as it can prevent further damage to the body.

• #43 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Caring for a Child With Adrenoleukodystrophy […] A rare disease diagnosis is often shocking, and it means making life changes. An adrenoleukodystrophy (ALD) diagnosis is no exception. Because this condition typically impacts children, parents have to make changes to their lives as well. Adrenoleukodystrophy News is here to help this process and give advice and information on raising a child with ALD. […] There are a number of things that should constantly be kept in mind when raising a child with ALD to ensure that everyone is best prepared for the future. Firstly, parents should educate themselves on the condition itself, including the symptoms and progression. They should also be aware of treatment options. For example, a stem cell transplant is the standard of care, as it can prevent further damage to the body.

• #44 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Caring for a Child With Adrenoleukodystrophy […] A rare disease diagnosis is often shocking, and it means making life changes. An adrenoleukodystrophy (ALD) diagnosis is no exception. Because this condition typically impacts children, parents have to make changes to their lives as well. Adrenoleukodystrophy News is here to help this process and give advice and information on raising a child with ALD. […] There are a number of things that should constantly be kept in mind when raising a child with ALD to ensure that everyone is best prepared for the future. Firstly, parents should educate themselves on the condition itself, including the symptoms and progression. They should also be aware of treatment options. For example, a stem cell transplant is the standard of care, as it can prevent further damage to the body.

• #45 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Parents should also be aware of any services or devices their children may need, such as wheelchairs, braces, or other adaptive devices. A medical alert device, whether that is a bracelet or a necklace, should also be worn in case of an emergency as many medical professionals are unaware of ALD. […] In terms of education, it is important to give any and all information to a child’s school so that they are best equipped to handle any possibility. This includes medical information, treatments, side effects, and any medication that needs to be given during school hours. Special services may be necessary as well, such as an elevator or special education plan. Children with ALD may not be able to fully participate in classes, especially physical education, so talk to a physician about the best plan for school. […] Raising a child with a rare disease can be scary and overwhelming, but there are resources available to help. It is also important to remember to take care of oneself, which caregivers can forget to do at times. Both parents and children should be at their healthiest and happiest.

• #46 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Parents should also be aware of any services or devices their children may need, such as wheelchairs, braces, or other adaptive devices. A medical alert device, whether that is a bracelet or a necklace, should also be worn in case of an emergency as many medical professionals are unaware of ALD. […] In terms of education, it is important to give any and all information to a child’s school so that they are best equipped to handle any possibility. This includes medical information, treatments, side effects, and any medication that needs to be given during school hours. Special services may be necessary as well, such as an elevator or special education plan. Children with ALD may not be able to fully participate in classes, especially physical education, so talk to a physician about the best plan for school. […] Raising a child with a rare disease can be scary and overwhelming, but there are resources available to help. It is also important to remember to take care of oneself, which caregivers can forget to do at times. Both parents and children should be at their healthiest and happiest.

• #47 Caring for a Child With Adrenoleukodystrophy – Patient Worthy

  https://patientworthy.com/2020/11/05/caring-for-a-child-with-adrenoleukodystrophy/

  Parents should also be aware of any services or devices their children may need, such as wheelchairs, braces, or other adaptive devices. A medical alert device, whether that is a bracelet or a necklace, should also be worn in case of an emergency as many medical professionals are unaware of ALD. […] In terms of education, it is important to give any and all information to a child’s school so that they are best equipped to handle any possibility. This includes medical information, treatments, side effects, and any medication that needs to be given during school hours. Special services may be necessary as well, such as an elevator or special education plan. Children with ALD may not be able to fully participate in classes, especially physical education, so talk to a physician about the best plan for school. […] Raising a child with a rare disease can be scary and overwhelming, but there are resources available to help. It is also important to remember to take care of oneself, which caregivers can forget to do at times. Both parents and children should be at their healthiest and happiest.

• #48 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  Caregiving is a demanding task regardless of a person’s disorder. But with rare diseases such as adrenoleukodystrophy (ALD) it can be particularly challenging, given this disease’s specific types and wide range of symptoms. […] Here are some tips for family and friends working to support ALD caregivers, helping to ensure they don’t become exhausted or overburdened. […] The stressful nature of caregiving means that caregivers may not always be in a position to explain a disease to those around them. Some may even be hesitant to talk about certain ALD symptoms, such as learning disabilities or clumsiness. It helps to have some idea about the disease before approaching a caregiver, so to ease conversations. […] Caregivers, whether family members or professionals, can hesitate to ask for help. So be ready to offer a helping hand, like taking on such daily activities as running a quick errand, shopping for day-to-day needs, or keeping a tab on upcoming doctor visits. Help in even little ways can go far in easing a caregiver’s sense of stress.

• #49 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  Caregiving is a demanding task regardless of a person’s disorder. But with rare diseases such as adrenoleukodystrophy (ALD) it can be particularly challenging, given this disease’s specific types and wide range of symptoms. […] Here are some tips for family and friends working to support ALD caregivers, helping to ensure they don’t become exhausted or overburdened. […] The stressful nature of caregiving means that caregivers may not always be in a position to explain a disease to those around them. Some may even be hesitant to talk about certain ALD symptoms, such as learning disabilities or clumsiness. It helps to have some idea about the disease before approaching a caregiver, so to ease conversations. […] Caregivers, whether family members or professionals, can hesitate to ask for help. So be ready to offer a helping hand, like taking on such daily activities as running a quick errand, shopping for day-to-day needs, or keeping a tab on upcoming doctor visits. Help in even little ways can go far in easing a caregiver’s sense of stress.

• #50 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  Caregiving is a demanding task regardless of a person’s disorder. But with rare diseases such as adrenoleukodystrophy (ALD) it can be particularly challenging, given this disease’s specific types and wide range of symptoms. […] Here are some tips for family and friends working to support ALD caregivers, helping to ensure they don’t become exhausted or overburdened. […] The stressful nature of caregiving means that caregivers may not always be in a position to explain a disease to those around them. Some may even be hesitant to talk about certain ALD symptoms, such as learning disabilities or clumsiness. It helps to have some idea about the disease before approaching a caregiver, so to ease conversations. […] Caregivers, whether family members or professionals, can hesitate to ask for help. So be ready to offer a helping hand, like taking on such daily activities as running a quick errand, shopping for day-to-day needs, or keeping a tab on upcoming doctor visits. Help in even little ways can go far in easing a caregiver’s sense of stress.

• #51 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  A word of support can also go a long way in assuaging a caregiver’s concerns. Stay in regular touch, and let that person know that you stand by him or her at all times. You may also suggest ALD support groups that they can join, which are a good source for insights into caring for people with this disease and for interacting with the larger ALD community. […] Given the hectic schedules and constant attention needed by patients, caregivers may not always be able to spend time with friends and family. Depending on the task at hand, they may need to postpone already made commitments, keep conversations short, or be out of touch for extended periods of time. Understand their situation and empathize with their job, keeping in contact in ways that don’t add to their burden. […] Continued attention to people with a chronic disease can be weary for anyone, more so for primary caregivers who are constantly on the job. Be sure to watch for the more common signs of depression, before they turn into something more serious.

• #52 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  A word of support can also go a long way in assuaging a caregiver’s concerns. Stay in regular touch, and let that person know that you stand by him or her at all times. You may also suggest ALD support groups that they can join, which are a good source for insights into caring for people with this disease and for interacting with the larger ALD community. […] Given the hectic schedules and constant attention needed by patients, caregivers may not always be able to spend time with friends and family. Depending on the task at hand, they may need to postpone already made commitments, keep conversations short, or be out of touch for extended periods of time. Understand their situation and empathize with their job, keeping in contact in ways that don’t add to their burden. […] Continued attention to people with a chronic disease can be weary for anyone, more so for primary caregivers who are constantly on the job. Be sure to watch for the more common signs of depression, before they turn into something more serious.

• #53 Tips for Taking Care of Adrenoleukodystrophy Caregivers – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/02/13/tips-for-taking-care-of-adrenoleukodystrophy-caregivers/

  A word of support can also go a long way in assuaging a caregiver’s concerns. Stay in regular touch, and let that person know that you stand by him or her at all times. You may also suggest ALD support groups that they can join, which are a good source for insights into caring for people with this disease and for interacting with the larger ALD community. […] Given the hectic schedules and constant attention needed by patients, caregivers may not always be able to spend time with friends and family. Depending on the task at hand, they may need to postpone already made commitments, keep conversations short, or be out of touch for extended periods of time. Understand their situation and empathize with their job, keeping in contact in ways that don’t add to their burden. […] Continued attention to people with a chronic disease can be weary for anyone, more so for primary caregivers who are constantly on the job. Be sure to watch for the more common signs of depression, before they turn into something more serious.

• #54 Adrenoleukodystrophy (ALD) | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/adrenoleukodystrophy/

  Care of children with ALD will require the input from many different health care professionals. Patients with ALD are managed in the inherited metabolic disorders clinic by specialists in metabolic medicine. Input from endocrinology teams in monitoring and treating adrenal insufficiency will be important. Neurology teams will provide input for those who have problems from cALD and (later in life) from adrenomyeloneuropathy. The Bone Marrow Transplant (BMT) team will be involved if this treatment is required. Input from other teams including physiotherapy, speech and language therapy, dietitians and psychologists will also be important. […] For boys who develop advanced forms of cerebral ALD, input from specialist symptom care or palliative care teams will also be important. […] Adrenal insufficiency can be treated by giving replacement hormones (which are essential for life). […] For boys who already have advanced stages of cALD when the diagnosis is first made, BMT/HSCT and gene therapy will not be suitable. In that situation, high-quality symptom care management will be important to address all the problems that ALD can cause.

• #55 Adrenoleukodystrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562328/

  Given the multiple organs affected and the diverse needs of patients with adrenoleukodystrophy, an interprofessional team approach is recommended. This healthcare team should include, at a minimum, endocrinologists, neurologists, geneticists, and psychologists. […] Providing patient-centered care for individuals with adrenoleukodystrophy requires a collaborative effort among healthcare professionals, including physicians, advanced practice practitioners, nurses, and pharmacists. […] Effective interprofessional communication fosters a collaborative environment where information is shared, questions are encouraged, and concerns are addressed promptly. […] Lastly, care coordination is pivotal in ensuring seamless and efficient patient care.

• #56 Adrenoleukodystrophy – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK562328/

  Given the multiple organs affected and the diverse needs of patients with adrenoleukodystrophy, an interprofessional team approach is recommended. This healthcare team should include, at a minimum, endocrinologists, neurologists, geneticists, and psychologists. […] Providing patient-centered care for individuals with adrenoleukodystrophy requires a collaborative effort among healthcare professionals, including physicians, advanced practice practitioners, nurses, and pharmacists. […] Effective interprofessional communication fosters a collaborative environment where information is shared, questions are encouraged, and concerns are addressed promptly. […] Lastly, care coordination is pivotal in ensuring seamless and efficient patient care.

• #57 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  Support for patients and family members is required after ALD is diagnosed. In addition to addressing symptoms, daily life support and caregiving burden should be considered. Furthermore, several challenges and opportunities exist for improving treatment and support systems. Therefore, combining appropriate supporters and support systems according to the progressive and hereditary characteristics of ALD is crucial. […] The prognosis for cerebral ALD is poor without treatment, and available treatment options are limited. Among these options, hematopoietic stem cell transplantation (HSCT) is the recommended treatment for ALD. […] In managing patients with ALD and their families, a support team, including pediatricians, genetic counselors, metabolic specialists, and neurologists, is required.

• #58 Comprehensive Care to Improve Quality of Life: A Case of Childhood Adrenoleukodystrophy

  https://scholarlycommons.hcahealthcare.com/hcahealthcarejournal/vol3/iss4/7/

  The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. […] Quality of life is of the utmost importance for patients with such a limited life span. Medical care must be individualized for patients with ALD in ways that will enhance their quality of life, focusing on counseling, behavioral management, and interventions designed to address communication difficulties and strengthen social relationships.

• #59 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  Understanding disease progression in ALD is vital for effective patient support. Developing appropriate care and treatment strategies for progressive symptoms is essential to maintaining the patients QOL. […] Therefore, physicians and nurses should assist patients in maintaining friendships and supporting their daily lives. New healthcare providers must fully understand the rapid progression of the disease and its impact on mental health of patients. […] The findings of this study suggest that the family members of patients with ALD are affected by the burden of caregiving and social life. Disease progression requires various types of care, including suctioning, tube feeding, and transfer, especially in adolescent patients with cerebral ALD. […] Therefore, family role adjustments may be necessary to address the increased care burden.

• #60 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  Understanding disease progression in ALD is vital for effective patient support. Developing appropriate care and treatment strategies for progressive symptoms is essential to maintaining the patients QOL. […] Therefore, physicians and nurses should assist patients in maintaining friendships and supporting their daily lives. New healthcare providers must fully understand the rapid progression of the disease and its impact on mental health of patients. […] The findings of this study suggest that the family members of patients with ALD are affected by the burden of caregiving and social life. Disease progression requires various types of care, including suctioning, tube feeding, and transfer, especially in adolescent patients with cerebral ALD. […] Therefore, family role adjustments may be necessary to address the increased care burden.

• #61 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  Understanding disease progression in ALD is vital for effective patient support. Developing appropriate care and treatment strategies for progressive symptoms is essential to maintaining the patients QOL. […] Therefore, physicians and nurses should assist patients in maintaining friendships and supporting their daily lives. New healthcare providers must fully understand the rapid progression of the disease and its impact on mental health of patients. […] The findings of this study suggest that the family members of patients with ALD are affected by the burden of caregiving and social life. Disease progression requires various types of care, including suctioning, tube feeding, and transfer, especially in adolescent patients with cerebral ALD. […] Therefore, family role adjustments may be necessary to address the increased care burden.

• #62 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  The mothers also spoke of their hopes for a new treatment alternative to HSCT. Gene therapy using lentiviral vectors for ALD has shown safety and efficacy and is expected to be utilized in the future. […] As ALD progresses, patients use a variety of support in addition to hospitalization, including day services, residential facilities, and home nursing care. However, it became clear that there were challenges in assessing these services, particularly in coordinating their use. […] Schools play an essential role in supporting children with ALD. […] The mothers wanted to work with the school and teachers to make their children comfortable. Notably, some schools were accommodating for children with disabilities by adding handrails and creating discussion forums. However, mothers were concerned that their children would be affected by any trouble with the school and adjusted how they interacted with the school accordingly.

• #63 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  The mothers also spoke of their hopes for a new treatment alternative to HSCT. Gene therapy using lentiviral vectors for ALD has shown safety and efficacy and is expected to be utilized in the future. […] As ALD progresses, patients use a variety of support in addition to hospitalization, including day services, residential facilities, and home nursing care. However, it became clear that there were challenges in assessing these services, particularly in coordinating their use. […] Schools play an essential role in supporting children with ALD. […] The mothers wanted to work with the school and teachers to make their children comfortable. Notably, some schools were accommodating for children with disabilities by adding handrails and creating discussion forums. However, mothers were concerned that their children would be affected by any trouble with the school and adjusted how they interacted with the school accordingly.

• #64 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  Support for patients and family members is required after ALD is diagnosed. In addition to addressing symptoms, daily life support and caregiving burden should be considered. Furthermore, several challenges and opportunities exist for improving treatment and support systems. Therefore, combining appropriate supporters and support systems according to the progressive and hereditary characteristics of ALD is crucial. […] The prognosis for cerebral ALD is poor without treatment, and available treatment options are limited. Among these options, hematopoietic stem cell transplantation (HSCT) is the recommended treatment for ALD. […] In managing patients with ALD and their families, a support team, including pediatricians, genetic counselors, metabolic specialists, and neurologists, is required.

• #65 Adrenoleukodystrophy | UPMC Children’s Hospital – Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/adrenoleukodystrophy

  If doctors diagnosed your child with adrenoleukodystrophy, we want you to know that youre not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Childrens Hospital of Pittsburgh is here to help. […] Well talk with you about: […] How you can care for your child at home. […] By the end of your visit, you will have: […] An ALD care plan tailored to your childs needs. […] When a child has a rare disease like adrenoleukodystrophy, it affects the whole family. […] Thats why the CRDT sees you as our partners in your childs ALD care. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #66 Adrenoleukodystrophy | UPMC Children’s Hospital – Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/adrenoleukodystrophy

  If doctors diagnosed your child with adrenoleukodystrophy, we want you to know that youre not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Childrens Hospital of Pittsburgh is here to help. […] Well talk with you about: […] How you can care for your child at home. […] By the end of your visit, you will have: […] An ALD care plan tailored to your childs needs. […] When a child has a rare disease like adrenoleukodystrophy, it affects the whole family. […] Thats why the CRDT sees you as our partners in your childs ALD care. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #67 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Your child’s treatment plan should also be shared with their school or daycare. Any administrators, teachers, and nurses should have a copy of the plan. This will ensure they know what care they may need to provide during the day, and what to do in case of any disease- or treatment-related issues. […] You should review and update the treatment plan as necessary after each doctor’s appointment. ALD is a progressive disease and symptoms are likely to worsen over time. Keeping the plan up-to-date and sharing any changes with everyone involved will help ensure you or your child continue to receive the proper care.

• #68 Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy – Alex – The Leukodystrophy Charity

  https://alextlc.org/research/longitudinal-neurologic-care-of-adults-ald-amn/

  Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are X-linked genetic disorders with significant lifelong implications. […] Early identification of symptoms and establishment of care with a neurologist are essential for lifelong management and surveillance. […] Currently, disease-modifying therapies are limited to cerebral ALD (CALD) in children. […] Hematopoietic stem cell transplantation (HSCT) can halt disease progression in early-stage CALD, as of recently adult males may now be eligible with strict criteria in place. […] Challenges in managing ALD/AMN include addressing emotional burdens, such as caregiver stress and genetic guilt, and improving access to specialised care. […] Future research is critical to understanding adult ALD/AMN, including biomarkers and advanced imaging techniques for improved risk stratification and treatment outcomes. […] Developing disease-specific interventions and expanding therapeutic options will enhance the quality of life for affected individuals. […] Additionally, neurologists must remain knowledgeable of emerging therapies and clinical trials to offer comprehensive, multidisciplinary care.

• #69 Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy – Alex – The Leukodystrophy Charity

  https://alextlc.org/research/longitudinal-neurologic-care-of-adults-ald-amn/

  Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are X-linked genetic disorders with significant lifelong implications. […] Early identification of symptoms and establishment of care with a neurologist are essential for lifelong management and surveillance. […] Currently, disease-modifying therapies are limited to cerebral ALD (CALD) in children. […] Hematopoietic stem cell transplantation (HSCT) can halt disease progression in early-stage CALD, as of recently adult males may now be eligible with strict criteria in place. […] Challenges in managing ALD/AMN include addressing emotional burdens, such as caregiver stress and genetic guilt, and improving access to specialised care. […] Future research is critical to understanding adult ALD/AMN, including biomarkers and advanced imaging techniques for improved risk stratification and treatment outcomes. […] Developing disease-specific interventions and expanding therapeutic options will enhance the quality of life for affected individuals. […] Additionally, neurologists must remain knowledgeable of emerging therapies and clinical trials to offer comprehensive, multidisciplinary care.

• #70 Adrenoleukodystrophy: Types, symptoms, inheritance, and more

  https://www.medicalnewstoday.com/articles/adrenoleukodystrophy

  Adrenoleukodystrophy is a serious condition. It can cause severe neurological disabilities and may result in death. Supportive care may help provide relief from symptoms. […] The treatments for X-ALD and N-ALD can manage symptoms but do not provide a cure or prevent the condition from worsening. […] A doctor may recommend supportive care to help provide some relief. This can include respiratory support, a feeding tube for providing nutrition, and occupational therapy. […] People with Addisons disease may benefit from medication, such as corticosteroid and mineralocorticoid replacement therapy. This therapy helps replace substances that the adrenal gland is not producing. […] Further research is necessary to investigate additional therapies that may help improve outcomes for more people. […] Treatment often focuses on relieving symptoms and not curing the condition. Future studies may look further into better, more effective treatment options for people with the condition.

• #71 Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03424-2

  The mothers also spoke of their hopes for a new treatment alternative to HSCT. Gene therapy using lentiviral vectors for ALD has shown safety and efficacy and is expected to be utilized in the future. […] As ALD progresses, patients use a variety of support in addition to hospitalization, including day services, residential facilities, and home nursing care. However, it became clear that there were challenges in assessing these services, particularly in coordinating their use. […] Schools play an essential role in supporting children with ALD. […] The mothers wanted to work with the school and teachers to make their children comfortable. Notably, some schools were accommodating for children with disabilities by adding handrails and creating discussion forums. However, mothers were concerned that their children would be affected by any trouble with the school and adjusted how they interacted with the school accordingly.

• #72 ALD: Adrenoleukodystrophy, Disease, X-Linked

  https://my.clevelandclinic.org/health/diseases/6030-adrenoleukodystrophy-ald

  Early intervention may offer the best chance for successful treatment. If you notice signs in your child, including behavioral or cognitive changes, talk to your healthcare provider. […] The earlier treatment for ALD starts, the better the chances of slowing the disease. Several ALD treatments are available, including stem cell transplant, medications and supportive therapies.

• #73 X-linked adrenoleukodystrophy | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/x-linked-adrenoleukodystrophy

  X-ALD is a genetic condition that babies typically inherit from their biological mother. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Regular monitoring of the nervous system (using magnetic resonance imaging [MRI]) and of the adrenal gland (using special blood tests) […] Hormone replacement therapy if the adrenal glands are not functioning well. This is usually a pill taken several times daily. […] Stem cell transplantation, if the cerebral (brain) form of the condition is present […] Children who receive early and ongoing treatment for X-ALD can have better health outcomes than those who do not. Early stem cell transplantation can help prevent problems in children with nervous system symptoms. Treatment works best if it is given when changes are just beginning in the brain, before it becomes extensive and nervous system signs or symptoms start.

• #74 Treatment Plan for Adrenoleukodystrophy – Adrenoleukodystrophy News

  https://adrenoleukodystrophynews.com/2020/11/04/treatment-plan-for-adrenoleukodystrophy/

  Adrenoleukodystrophy is a rare genetic brain disorder that has been categorized into three different forms: childhood cerebral adrenoleukodystrophy (CALD), adrenomyeloneuropathy (AMN), and Addison’s disease. […] If you or your child has ALD, work with your primary care physician to create and maintain a treatment plan to ensure the best possible care. […] Having a treatment plan is important to ensure that you or your child receive the best possible care. ALD is a rare disease, and many physicians and clinicians may not be familiar with it. Having information readily available to give to them can improve the healthcare for you or your child. A treatment plan is also a good way to update changes to disease progression and necessary care. […] You should share the treatment plan with your healthcare providers to ensure they are up-to-date with current medications and treatments. A copy should also be available for any emergency room personnel in case of need.

• #75 Adrenoleukodystrophy | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/adrenoleukodystrophy

  If the blood test shows that your baby has ALD, your doctor will discuss how to keep your baby healthy. This usually involves monitoring periodically for adrenal insufficiency with a blood test and performing a magnetic resonance imaging scan (MRI) every 6 to 12 months to detect changes due to childhood cerebral disease. […] Individuals who have adrenal insufficiency need to have regular adrenal gland testing, and can be treated effectively with replacement corticosteroids. The medication replaces what the body would have made daily, but needs to be carefully monitored and adjusted as individuals grow. Illnesses and other stressors such as surgery require increased doses. […] HCT is a treatment that may halt the progression of cALD in children if the disease is diagnosed and treated early. Stem cells are taken from umbilical cord blood or bone marrow from a healthy, matched donor and given to the child with cALD. These new stem cells produce the protein ALDP that the child with cALD cannot produce himself. HCT however is a complicated procedure and not without risks.

• #76 X-linked adrenoleukodystrophy | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/x-linked-adrenoleukodystrophy

  X-ALD is a genetic condition that babies typically inherit from their biological mother. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Regular monitoring of the nervous system (using magnetic resonance imaging [MRI]) and of the adrenal gland (using special blood tests) […] Hormone replacement therapy if the adrenal glands are not functioning well. This is usually a pill taken several times daily. […] Stem cell transplantation, if the cerebral (brain) form of the condition is present […] Children who receive early and ongoing treatment for X-ALD can have better health outcomes than those who do not. Early stem cell transplantation can help prevent problems in children with nervous system symptoms. Treatment works best if it is given when changes are just beginning in the brain, before it becomes extensive and nervous system signs or symptoms start.

• #77 Comprehensive Adrenoleukodystrophy (ALD) Clinic | Medical School

  https://med.umn.edu/pediatrics/programs-centers-institutes/leukodystrophy-center/adrenoleukodystrophy-ald

  Our Adrenoleukodystrophy Comprehensive Clinic was established as a multi-disciplinary clinic developed specifically for patients with ALD. […] We are focused on providing assistance to families with a baby diagnosed by newborn screening, including the monitoring important to identify as early as possible adrenal insufficiency and the onset of cerebral disease. […] The standard treatment is blood stem cell transplant, but outcomes are dependent on finding the disease early. […] For this reason, newborn screening is being done. […] Gene therapy is also being explored for the cerebral form of ALD. […] This study also involves maintaining a prospective biorepository to collect and store buccal swab, blood, stool and urine samples as well.

• #78 Adrenoleukodystrophy (ALD) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/adrenoleukodystrophy-ald

  Cerebral adrenoleukodystrophy, also known as cerebral ALD or CALD, affects the brain, typically during childhood. It occurs in about 1 in 21,000 boys between ages 4 and 10, affecting about 35 to 40 percent of boys with the ABCD1 mutation. Females with the ABCD1 mutation are highly unlikely to develop CALD. Approximately half may develop neurological symptoms in adulthood, but these typically are due to adrenomyeloneuropathy and spinal cord dysfunction, and are not cerebral. […] The good news is that there are treatments for CALD, including a new gene therapy, that can halt the decline in brain function in CALD and allow children to thrive if given early enough. Many states now include ALD in routine newborn screening, or will be starting soon, allowing the disease to be caught and treated early.

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