Materiały źródłowe

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

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

  Can ALD be prevented? There is no known way to prevent ALD. If a family member has ALD, follow your providers recommendation for genetic testing and counseling.

• #2 Adrenoleukodystrophy: Types, Causes, and Symptoms

  https://www.healthline.com/health/adrenoleukodystrophy

  Because ALD is an inherited condition, theres no way to prevent it. If youre a woman with a family history of ALD, your doctor will recommend genetic counseling before you have children. An amniocentesis or chorionic villus sampling can be done during pregnancy to determine if your unborn child is affected.

• #3 Dietary treatment for X-linked adrenoleukodystrophy: Is “Lorenzo’s oil” useful? | Endocrinología y Nutrición (English Edition)

  https://www.elsevier.es/en-revista-endocrinologia-nutricion-412-articulo-dietary-treatment-for-x-linked-adrenoleukodystrophy-S2173509313000020

  X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disease, with an estimated incidence of 1/40,000 births, and occurs almost exclusively in males. Due to the lack of a specific effective treatment, Lorenzo’s oil has been used for years as a common therapy for all patients with X-ALD. Today, it appears that the most promising characteristic of this substance is its potential preventive action, but it is ineffective once the disease has become manifest. […] Disease management consists of 1) preventive treatment (diet plus Lorenzo’s oil) or 2) symptomatic treatment. The goal of diet is the restriction of VLCFAs and saturated fats to prevent their accumulation. […] Various reports suggest that the administration of GTO/GTE to asymptomatic patients may prevent the occurrence of neurological symptoms, although further studies are needed. Thus, it appears to be indicated for patients with no neurological symptoms, preferably under 8-10 years of age with normal MRI. […] In conclusion, although additional controlled, large, and long-lasting studies are needed to confirm it, Lorenzo’s oil could be effective in preventing neurological manifestations in asymptomatic patients with X-ALD.

• #4 What is ALD? — The Stop ALD Foundation

  http://www.stopald.org/what-is-ald

  Today, new scientific knowledge offers hope for the successful treatment and prevention of ALD. […] It is urgent that we invest in research that will advance new therapies, as well as new tools for early diagnosis and educational campaigns that will raise awareness so that children with ALD can be identified as early as possible, while there is the best hope of a beneficial treatment.

• #5 Exploring Adrenoleukodystrophy (ALD) Treatment Options

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

  Early detection of cerebral ALD can help introduce treatment to prevent progression. […] This may be an option to slow or halt the progression of cerebral ALD in children if diagnosed and managed early. […] Treatment for cerebral ALD at early stages is associated with better results.

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

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

  We believe the availability of newborn screening will prove extremely important in the identification of patients at risk, and in minimizing the long-term effects of their disease. […] Currently many states have added ALD to diseases being screened for at birth (newborn screening). […] This study also involves maintaining a prospective biorepository to collect and store buccal swab, blood, stool and urine samples as well.

• #7 Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy

  https://www.mdpi.com/2409-515X/8/1/18

  Adrenoleukodystrophy (ALD) is a peroxisomal disorder affecting the nervous system, adrenal cortical function, and testicular function. Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and cerebral ALD. […] Early recognition and management of adrenal insufficiency can prevent adrenal crisis. […] Newborn screening has allowed for the identification of those at high risk for adrenal insufficiency prior to the onset of symptoms, making it an ideal condition to add to newborn screening panels. […] Once confirmed to have ALD, referral to pediatric endocrinology for adrenal insufficiency surveillance should not be delayed given the reports of early biochemical adrenal insufficiency and inability to predict which male infants will develop adrenal insufficiency early.

• #8 Adrenoleukodystrophy overview – wikidoc

  https://www.wikidoc.org/index.php/Adrenoleukodystrophy_overview

  There are no established measures for the primary prevention of adrenoleukodystrophy. […] The objective of secondary prevention in adrenoleukodystrophy is to diagnose it early, preferably before neurological symptoms appear so as to prevent nerve cell damage from occurring, initiating timely adrenal steroid replacement therapy following detection of adrenal insufficiency, and for providing allogeneic hematopoietic stem cell transplantation (HSCT) as a means of treating cerebral ALD. […] In February 2016, adrenoleukodystrophy was added to the Recommended Uniform Screening Panel (RUSP) in the USA, which is the federal list of all genetic diseases recommended for state newborn screening programs.

• #9 Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy

  https://www.mdpi.com/2409-515X/8/1/18

  Adrenal insufficiency surveillance guidance was based on limited cohort studies, and reassessment of the algorithm based on long-term natural history studies will be necessary. […] Early identification of males with ALD through newborn screening identifies those at high risk for adrenal insufficiency and allows for the initiation of hydrocortisone treatment and prevention of adrenal crisis and chronic symptoms.

• #10 X-linked adrenoleukodystrophy | Newborn Screening

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

  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. […] 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.

• #11 Utah newborns now screened for X-linked adrenoleukodystrophy | DHHS Newborn Screening Program

  https://newbornscreening.utah.gov/utah-newborns-now-screened-for-x-linked-adrenoleukodystrophy/

  Identifying and treating children with ALD is a life-saving opportunity, said Josh Bonkowsky, MD PhD, an expert in ALD and Chief of Pediatric Neurology at University of Utah Health and Intermountain Primary Children’s Hospital. Our goal is to prevent the terrible outcomes before it is too late. This screen gives children and families with this disease the potential for a long and healthy life. […] Disorders, such as ALD, are often not detected and diagnosed only when symptoms develop, which unfortunately is too late to prevent disability or death, said Kim Hart, Genetic Counselor and UDOH Newborn Screening Program Manager. Newborn Screening is critical in the early detection and treatment of disorders and ensures all babies can live full and healthy lives.

• #12 X-Linked Adrenoleukodystrophy | Choose the Right Test

  https://arupconsult.com/content/x-linked-adrenoleukodystrophy

  Newborn screening for X-linked adrenoleukodystrophy (X-ALD) is recommended nationwide but has not yet been implemented in all states. […] Hematopoietic stem cell transplantation (HSCT) must be performed early in the development of leukodystrophy; males with pathogenic ABCD1 gene variants therefore must undergo ongoing assessment, including evaluation of adrenocortical function and magnetic resonance imaging (MRI) of the brain, to determine if HSCT is indicated. HSCT can slow or arrest the progression of leukodystrophy but will not influence whether the patient develops adrenal insufficiency (AI). […] Monitoring is necessary in patients with X-ALD to detect disease progression and identify patients for whom treatment is indicated. It includes testing for AI (measurement of morning cortisol and adrenocorticotropic hormone [ACTH]) and periodic evaluation for cerebral white matter demyelination via magnetic resonance imaging (MRI). […] Testing of family members is recommended after a diagnosis of X-ALD. However, the detection of variants is not prognostic because there is no genotype-phenotype correlation (i.e., the particular variant does not correlate with disease severity or disease course), even among family members.

• #13 X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan | Journal of Human Genetics

  https://www.nature.com/articles/jhg2010139

  X-linked adrenoleukodystrophy (ALD) is an intractable neurodegenerative disease associated with the accumulation of very long-chain saturated fatty acids (VLCFA) in tissues and body fluids. […] The only effective therapy for the cerebral form of ALD should be hematopoietic stem cell transplantation at the early stages of the cerebral symptoms, therefore, we performed presymptomatic diagnosis of ALD by extended familial screening of the probands with careful genetic counseling, and established a long follow-up system for these patients to prevent the progression of brain involvement and to monitor the adrenocortical insufficiency. […] HSCT is the only curative approach that can prevent the progression of brain involvement in the cerebral form of ALD to date; however, it is only effective for patients in the early stages of cerebral symptoms.

• #14 X-linked adrenoleukodystrophy: Diagnostic and follow-up system in Japan | Journal of Human Genetics

  https://www.nature.com/articles/jhg2010139

  Therefore, presymptomatic diagnosis by extended familial screening of probands should be valuable for early intervention and for preventing advanced cerebral symptoms. […] Carrier detection with genetic counseling, which can be done by noting increased VLCFA in plasma, and mutation analysis of the ABCD1 gene are very important to identify presymptomatic patients and other female carriers among their relatives. […] Proper medication is often recommended for these carriers to reduce spasticity of the legs and pain in the lower back and hips. […] The establishment of a long-term follow-up system for these presymptomatic patients is necessary because we cannot predict suitable timing when HSCT should be done to get beneficial effects nor the subsequent clinical outcome. […] Furthermore, even in AMN patients, about half of these patients developed into adult cerebral ALD about 10 years after the onset, therefore, it is necessary to follow-up cerebral involvement every 6 months in AMN patients also.

• #15 Adrenoleukodystrophy: Recent Advances in Treatment and Disease Etiology

  https://www.medscape.com/viewarticle/590158

  Retrospective analyses reveal that childhood cerebral adrenoleukodystrophy (ccALD) patients treated with hematopoietic stem cell transplantation (HSCT) in the early stage of disease progression show a 95% survival rate with improved neurological outcomes compared with 54% survival in patients not treated with HSCT. […] Early diagnosis and frequent monitoring is critical for the effective treatment of X-linked ALD. […] HSCT may be a suitable treatment for X-linked ALD adults with early signs of cerebral involvement.

• #16 Our Focus: Cerebral Adrenoleukodystrophy (CALD) | bluebird bio

  https://www.bluebirdbio.com/our-focus/cerebral-adrenoleukodystrophy

  Currently, there is no way to predict which boys with ALD will develop CALD. […] Diagnosing and treating CALD as early as possible is essential to give these children the best possible chance at life by stopping disease progression and preserving neurological function. […] Newborn screening for ALD is vital to enable early diagnosis and treatment.

• #17 Emergency Management of Adrenal Insufficiency in Adrenoleukodystrophy

  https://adrenoleukodystrophynews.com/2021/02/10/emergency-management-adrenal-insufficiency-adrenoleukodystrophy/

  In order to prevent emergencies in the future, patients with adrenal insufficiency should receive daily doses of hydrocortisone. The corticosteroids is usually given as an oral medication to help people with ALD maintain adequate cortisol levels in their bodies. […] In the case of physical stress, such as an illness, or psychological stress, patients may need an increase in their dose of hydrocortisone, clinicians note. […] Patients and their caregivers should work with their doctors to come up with an adrenal insufficiency action plan. This plan should lay out the best routine for hydrocortisone administration, with specifics on how the doses — daily, increased, and even emergency — should be handled in the future.

• #18 Stanford Medicine offers gene therapy for a devastating pediatric neurologic disease | News Center

  https://med.stanford.edu/news/all-news/2024/06/adrenoleukodystrophy-therapy.html

  Experts at Stanford Medicine Children’s Health helped conduct clinical trials for the new therapy, which gives kids with X-linked adrenoleukodystrophy, or ALD, a functioning copy of the abnormal gene. […] The new therapy, approved by the U.S. Food and Drug Administration in late 2022, halts brain complications of the genetic disease more commonly known as ALD. […] Catching these signs quickly gives patients the best chance for successful treatment with a stem cell transplant or gene therapy, as these approaches can stop the brain complications from worsening but don’t reverse brain damage that has already occurred. […] However, given the severe and potentially fatal course of untreated cerebral ALD, experts who reviewed the treatment for FDA approval decided the risk was manageable, she added.

• #19 Gene therapy curbs adrenoleukodystrophy – Boston Children’s Answers

  https://answers.childrenshospital.org/adrenoleukodystrophy-gene-therapy/

  Adrenoleukodystrophy is caused by a mutation to a gene on the X chromosome called ABCD1, which controls the body’s production of an enzyme called ALD protein that normally breaks down fatty acids. […] Newborn screening and childhood genetic testing can identify young boys who have the defective ABCD1 gene before symptoms of adrenoleukodystrophy appear, creating a small window of opportunity to prevent the disease’s degenerative effects before they begin to irreversibly accumulate. […] Although we need to continue to follow the patients to determine the long-term outcome of the gene therapy, so far it has effectively arrested the progress of cerebral adrenoleukodystrophy in these children. […] There are two great advantages to gene therapy. The first is that patients don’t have to wait to find a donor match. The second is that, because we use their own, gene-modified stem cells, there’s no risk of graft-versus-host-disease and the patients do not require any immunosuppression drugs, which can have very significant, even fatal, side effects.

• #20 Gene therapy curbs adrenoleukodystrophy – Boston Children’s Answers

  https://answers.childrenshospital.org/adrenoleukodystrophy-gene-therapy/

  In my clinic, the impact of this trial has been phenomenal. Boys without a donor match for stem-cell transplant were often passing away within a year or two of their diagnosis. Now, with early diagnosis and gene therapy, these boys are living longer and some are thriving enough to play sports and participate in other normal day-to-day activities.

• #21 HIE Multimedia – Adrenoleukodystrophy

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001182

  Genetic counseling is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition. […] Prenatal diagnosis of X-linked ALD is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.

• #22 Adrenoleukodystrophy – UF Health

  https://ufhealth.org/conditions-and-treatments/adrenoleukodystrophy

  Genetic counseling is recommended for couples with a family history of X-linked adrenoleukodystrophy. Mothers of affected sons have an 85% chance of being a carrier for this condition. […] Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.

• #23 Cerebral Adrenoleukodystrophy – Child Neurology Foundation

  https://www.childneurologyfoundation.org/disorder/cerebral-adrenoleukodystrophy/

  There is no way to prevent cerebral ALD. If there is family history of ALD, genetic testing and counselling can be provided by a doctor. […] Lorenzos oil is a mixture of oleic acid and erucic acid. There is some evidence that the oil can prevent or delay cerebral ALD symptoms. This has only been found when taken prior to symptom onset. The oil has no beneficial effect in symptomatic patients.

• #24 Treating ALD — The Stop ALD Foundation

  http://www.stopald.org/treating-ald

  Adrenoleukodystrophy (ALD) therapy development, awareness, prevention. […] Recent studies indicate that Lorenzo’s oil may be effective in staving off the onset of symptoms in boys with the disease who have not yet become symptomatic. […] This study does not definitively prove that Lorenzo’s oil is what kept the boys from developing symptoms. […] Parents with a child who may be at risk for ALD can inquire about enrolling in a clinical trial at the Kennedy Krieger Institute, 800-873-3377.

• #25

  https://link.springer.com/article/10.1016/j.nurx.2006.01.004

  Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with Lorenzos Oil, which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. […] Family screening provides important opportunities for disease prevention.

• #26 Easily misdiagnosed X-linked adrenoleukodystrophy | Italian Journal of Pediatrics | Full Text

  https://ijponline.biomedcentral.com/articles/10.1186/s13052-024-01669-y

  Patients with only symptoms of adrenal insufficiency cannot be simply clinically diagnosed with Addisons disease. […] Being alert to the possibility of ABCD1 variation is necessary, and complete genetic testing is needed as soon as possible to identify X-ALD (Addisons-only) early to achieve regular monitoring of the disease and receive treatment early. […] Thus, patients should be protected from external environmental factors to delay the progression of cerebral adrenoleukodystrophy. […] For CCALD, after early diagnosis, patients should be protected as extensively as possible to avoid infection, head trauma, and other events, which can stabilize the disease to a certain extent, to reduce or delay its progression to MFD or death. […] In addition to early treatment, this study also emphasizes early prevention before the onset of neurological symptoms, that is, avoiding the occurrence of hit events, such as infection, to delay the progression of the disease.

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