Materiały źródłowe

• #1 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Although there is no cure for Rett syndrome, treatments address symptoms and provide support. These may improve the potential for movement, communication and social participation. The need for treatment and support doesn’t end as children become older it’s usually necessary throughout life. Treating Rett syndrome requires a team approach. […] Treatments that can help children and adults with Rett syndrome include: […] Regular medical care. Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis, gastrointestinal (GI) issues and heart problems is needed. […] Medications. Though medications can’t cure Rett syndrome, they may help control some signs and symptoms that are part of the disorder. Medications may help with seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal (GI) tract or the heart.

• #2 Rett Syndrome: What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/6089-rett-syndrome

  Treatment varies based on your childs specific symptoms. For example, medications can treat seizures and movement challenges. If your child has difficulty with motor skills and language, their provider may recommend: […] For children 2 years of age and older, a medication called trofinetide showed success during clinical trials. Its the first FDA-approved treatment specifically for Rett Syndrome. Its not a cure but is considered a disease-modifying treatment. Youll need to discuss and work closely with your medical team to explore this option. […] There isnt a cure for Rett syndrome. Your childs providers can help manage their symptoms throughout their life. […] Researchers, through clinical trials, are finding new treatment options to help children diagnosed with Rett syndrome. If you have any questions about your childs outlook or treatment, let their providers know.

• #3 Managing Rett Care | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/managing-rett-care/

  Managing Rett syndrome requires a team of specialists working together to address the unique needs of each individual. […] DAYBUE (trofinetide) is the first and only FDA-approved treatment for Rett syndrome, indicated for adults and pediatric patients 2 years of age and older. […] In clinical trials, caregivers and clinicians observed significant improvement in the signs and symptoms of Rett syndrome versus placebo at 12 weeks. […] Working with a knowledgeable care team is essential for developing an effective care plan.

• #4 Available Treatments for Rett Syndrome | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/healthcare-providers/available-treatments/

  Since no two individuals with Rett are exactly the same, each one needs a personalized treatment plan. […] Any treatment decision should be made based on the individual and family’s needs, goals, and values in consultation with a healthcare provider. […] The IRSF Rett Syndrome Comprehensive Care Guidelines and Quick Reference Guide were developed in collaboration with Rett syndrome experts throughout the U.S. […] DAYBUE (trofinetide) is a prescription medication taken orally to treat Rett syndrome in adults and children 2 years of age and older. […] In the LAVENDER trial, doctors and caregivers reported improvements in the signs and symptoms of Rett syndrome at 12 weeks compared to placebo. […] DAYBUE is not a cure for Rett syndrome. […] The path to FDA approval of DAYBUE (trofinetide) for the treatment of Rett syndrome was more than a decade in the making. […] Trofinetide, now called DAYBUE, becomes the first FDA-approved treatment for Rett syndrome! […] We also offer valuable patient care resources for healthcare providers involved in the treatment of an individual with Rett syndrome.

• #5 FDA approves first treatment for Rett Syndrome | FDA

  https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-rett-syndrome

  FDA has approved Daybue (trofinetide) oral solution as the first treatment for Rett syndrome, a rare, genetic neurological disorder. Daybue is approved for the treatment of Rett syndrome in adults and children 2 years of age and older. […] Patients treated with Daybue demonstrated a statistically significant difference compared to placebo on the co-primary efficacy endpoints, as measured by the change from baseline in the RSBQ total score and the CGI-I score at week 12.

• #6 A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/trofinetideapproved/

  A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! […] On March 10, 2023, Acadia Pharmaceuticals announced that their investigational drug, Trofinetide, has been approved by the U.S. Food and Drug Administration (FDA) for the treatment of Rett syndrome. […] DAYBUE (trofinetide) is the first treatment for Rett syndrome to receive FDA approval. […] DAYBUE is approved for the treatment of Rett syndrome in individuals two years of age and older. […] Trofinetide works by reducing inflammation in the brain, stopping certain types of cells from becoming overactive, and increasing the amount of the naturally occurring protein called IGF-1. […] In studies, participants taking Trofinetide saw improvement across several key domains including social communication, fine motor skills, and breathing.

• #7 First-Ever US FDA Approved Treatment for Rett Syndrome – UCSF Pediatrics

  https://medconnection.ucsfbenioffchildrens.org/news/first-ever-us-fda-approved-treatment-for-rett-syndrome

  The US FDA recently approved the first-ever treatment for Rett syndrome, a rare and debilitating neurological disorder diagnosed almost exclusively in girls. […] The current approach to treatment revolves around managing symptoms. Some medications are used to address specific symptoms. […] That’s why we are excited about the new medication because it is the first treatment for Rett Syndrome, targeting its underlying pathology. […] The new medication, called trofinetide, targets the specific pathway for the MECP2 gene mutation and works by reducing inflammation in the brain, stopping certain types of cells from becoming overactive, and increasing the amount of the naturally occurring protein called IGF-1.1 […] Overall, trofinetide has shown promising results in enhancing various aspects of a child’s functioning and well-being in Rett syndrome.

• #8 A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/trofinetideapproved/

  A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! […] On March 10, 2023, Acadia Pharmaceuticals announced that their investigational drug, Trofinetide, has been approved by the U.S. Food and Drug Administration (FDA) for the treatment of Rett syndrome. […] DAYBUE (trofinetide) is the first treatment for Rett syndrome to receive FDA approval. […] DAYBUE is approved for the treatment of Rett syndrome in individuals two years of age and older. […] Trofinetide works by reducing inflammation in the brain, stopping certain types of cells from becoming overactive, and increasing the amount of the naturally occurring protein called IGF-1. […] In studies, participants taking Trofinetide saw improvement across several key domains including social communication, fine motor skills, and breathing.

• #9 Available Treatments for Rett Syndrome | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/healthcare-providers/available-treatments/

  Since no two individuals with Rett are exactly the same, each one needs a personalized treatment plan. […] Any treatment decision should be made based on the individual and family’s needs, goals, and values in consultation with a healthcare provider. […] The IRSF Rett Syndrome Comprehensive Care Guidelines and Quick Reference Guide were developed in collaboration with Rett syndrome experts throughout the U.S. […] DAYBUE (trofinetide) is a prescription medication taken orally to treat Rett syndrome in adults and children 2 years of age and older. […] In the LAVENDER trial, doctors and caregivers reported improvements in the signs and symptoms of Rett syndrome at 12 weeks compared to placebo. […] DAYBUE is not a cure for Rett syndrome. […] The path to FDA approval of DAYBUE (trofinetide) for the treatment of Rett syndrome was more than a decade in the making. […] Trofinetide, now called DAYBUE, becomes the first FDA-approved treatment for Rett syndrome! […] We also offer valuable patient care resources for healthcare providers involved in the treatment of an individual with Rett syndrome.

• #10 FDA approves first treatment for Rett Syndrome | FDA

  https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-first-treatment-rett-syndrome

  FDA has approved Daybue (trofinetide) oral solution as the first treatment for Rett syndrome, a rare, genetic neurological disorder. Daybue is approved for the treatment of Rett syndrome in adults and children 2 years of age and older. […] Patients treated with Daybue demonstrated a statistically significant difference compared to placebo on the co-primary efficacy endpoints, as measured by the change from baseline in the RSBQ total score and the CGI-I score at week 12.

• #11 A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/trofinetideapproved/

  A First for Rett: FDA Approves Trofinetide for Treatment of Rett Syndrome! […] On March 10, 2023, Acadia Pharmaceuticals announced that their investigational drug, Trofinetide, has been approved by the U.S. Food and Drug Administration (FDA) for the treatment of Rett syndrome. […] DAYBUE (trofinetide) is the first treatment for Rett syndrome to receive FDA approval. […] DAYBUE is approved for the treatment of Rett syndrome in individuals two years of age and older. […] Trofinetide works by reducing inflammation in the brain, stopping certain types of cells from becoming overactive, and increasing the amount of the naturally occurring protein called IGF-1. […] In studies, participants taking Trofinetide saw improvement across several key domains including social communication, fine motor skills, and breathing.

• #12 New Therapy Improves Lives of Girls and Women with Rett Syndrome | UC San Francisco

  https://www.ucsf.edu/news/2024/06/427876/new-therapy-improves-lives-girls-and-women-rett-syndrome

  Concerned, Emilianas parents met with numerous doctors to figure out what was wrong. […] Katies Clinic provides a team approach to the multifaceted needs of patients. Treatments are led by a neurologist with help from a pediatric nurse practitioner who coordinate care. […] One groundbreaking treatment they prescribe is Daybue, the first and only medication for Rett Syndrome. Just approved last year, the oral medication improves the strength of neuronal connections. […] Daybue makes it possible to get more signals out of the brain and enables patients to be more alert, aware and engaged, Tu said. Daybue typically makes communication easier, helps patients engage more with their surroundings, improves their attention span, makes them more stable when walking and empowers them to make more reliable choices, she explained.

• #13 New Therapy Improves Lives of Girls and Women with Rett Syndrome | UC San Francisco

  https://www.ucsf.edu/news/2024/06/427876/new-therapy-improves-lives-girls-and-women-rett-syndrome

  Emiliana started taking Daybue in August, and her parents already see incredible improvements. […] Daybue is the first daily treatment for Rett Syndrome to try to protect neurons in the brain, possibly restoring some functions to girls. […] With Daybue, were also hopeful shell be able to feed herself and continue to walk. […] UCSF makes it known that theres so much value and importance in studying and treating rare diseases, Tu said.

• #14 Available Treatments for Rett Syndrome | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/healthcare-providers/available-treatments/

  Since no two individuals with Rett are exactly the same, each one needs a personalized treatment plan. […] Any treatment decision should be made based on the individual and family’s needs, goals, and values in consultation with a healthcare provider. […] The IRSF Rett Syndrome Comprehensive Care Guidelines and Quick Reference Guide were developed in collaboration with Rett syndrome experts throughout the U.S. […] DAYBUE (trofinetide) is a prescription medication taken orally to treat Rett syndrome in adults and children 2 years of age and older. […] In the LAVENDER trial, doctors and caregivers reported improvements in the signs and symptoms of Rett syndrome at 12 weeks compared to placebo. […] DAYBUE is not a cure for Rett syndrome. […] The path to FDA approval of DAYBUE (trofinetide) for the treatment of Rett syndrome was more than a decade in the making. […] Trofinetide, now called DAYBUE, becomes the first FDA-approved treatment for Rett syndrome! […] We also offer valuable patient care resources for healthcare providers involved in the treatment of an individual with Rett syndrome.

• #15 First-Ever US FDA Approved Treatment for Rett Syndrome – UCSF Pediatrics

  https://medconnection.ucsfbenioffchildrens.org/news/first-ever-us-fda-approved-treatment-for-rett-syndrome

  Trofinetide is a liquid medicine, given twice a day. It’s a modifying therapy, similar to treatments for diabetes or multiple sclerosis, where we’re changing the way the disease works in their body. […] At UCSF Benioff Children’s, we pride ourselves on being a community-based hospital that integrates exceptional academic and research capabilities. Recognized as a Center of Excellence for Rett Syndrome, we’re one of the few centers in the US to offer multidisciplinary care for patients with Rett syndrome. […] We advocate to ensure that patients have access to vital resources, including physical therapy and all the necessary services they deserve.

• #16 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Although there is no cure for Rett syndrome, treatments address symptoms and provide support. These may improve the potential for movement, communication and social participation. The need for treatment and support doesn’t end as children become older it’s usually necessary throughout life. Treating Rett syndrome requires a team approach. […] Treatments that can help children and adults with Rett syndrome include: […] Regular medical care. Management of symptoms and health problems may require a multispecialty team. Regular monitoring of physical changes such as scoliosis, gastrointestinal (GI) issues and heart problems is needed. […] Medications. Though medications can’t cure Rett syndrome, they may help control some signs and symptoms that are part of the disorder. Medications may help with seizures, muscle stiffness, or problems with breathing, sleep, the gastrointestinal (GI) tract or the heart.

• #17 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] Various treatments have been used to manage epilepsy in persons with RS. The FDA approved trofinetide (Daybue), an oral solution, as the first treatment for Rett syndrome in March 2023. It is indicated for adults and children aged 2 years and older. Treatments range from conventional AEDs (eg, carbamazepine and valproic acid) to newer AEDs (eg, topiramate and lamotrigine), a ketogenic diet, and vagal nerve stimulation. […] The FDA approved trofinetide (Daybue), an oral solution, as the first treatment for Rett syndrome in March 2023. It is indicated for adults and children aged 2 years and older. […] Bromocriptine and carbidopa-levodopa, which are dopamine agonists, have been tried as treatments for motor dysfunction in persons with RS; however, benefits are neither substantial nor long lasting.

• #18 What are the treatments for Rett syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/rett/conditioninfo/treatments

  Most people with Rett syndrome benefit from well-designed interventions no matter what their age, but the earlier that treatment begins, the better. […] These treatments, forms of assistance, and options for medication generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact. […] Physical Therapy/Hydrotherapy improves or maintains mobility and balance. […] Occupational Therapy improves or maintains use of hands. […] Speech-Language Therapy teaches nonverbal communication. […] Feeding Assistance supplements calcium and minerals to strengthen bones and slow scoliosis. […] Medication is used to reduce breathing problems, eliminate problems with abnormal heart rhythm, relieve indigestion and constipation, and control seizures.

• #19 Rett Syndrome Diagnosis, Treatment & Future Research

  https://www.mastermindbehavior.com/post/rett-syndrome-diagnosis

  Rett syndrome is a rare neurological disorder that predominantly affects females. […] Recognizing and diagnosing Rett syndrome is critical for ensuring access to breakthrough therapies and individualizing treatments based on each patients needs and comorbidities. […] Early diagnosis is crucial for improving outcomes, and thus understanding the early symptoms of Rett syndrome is essential. […] Understanding the stages of Rett syndrome can help parents and caregivers prepare for the challenges they may face. […] As research advances, our understanding of the causes and potential treatments for the syndrome continues to evolve. […] With a confirmed diagnosis, parents can begin exploring Rett syndrome therapies to manage symptoms and enhance their child’s quality of life. […] While there is currently no cure for Rett syndrome, there are various treatment approaches available that aim to manage symptoms and improve the quality of life for those affected.

• #20 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #21 Non-drug Treatments for Rett Syndrome | Rett Syndrome NewsEnvelope icon

  https://rettsyndromenews.com/non-drug-treatments-of-rett-syndrome/

  No cure exists for Rett syndrome, and treatments focus on managing symptoms and preventing complications. In addition to medications to help control specific symptoms, several non-drug approaches may be used to help manage the condition and improve patients’ quality of life. Functional abilities can be improved by various interventions such as physiotherapy, occupational therapy, hippotherapy, hydrotherapy, speech therapy, and music therapy. […] Hippotherapy refers to using a horse and its movement as a way of rehabilitation that might improve motor, sensory, and communication skills. […] Hydrotherapy uses activities in water as a clinical intervention method to improve or restore functional abilities in Rett syndrome patients. […] Music therapy refers to the use of music as a clinical intervention to develop, improve, or restore functional deficits.

• #22 Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

  https://www.mdpi.com/2076-3425/10/7/410

  Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. […] According to the results, a multimodal individualized physical therapy program should be regularly recommended to patients with Rett syndrome in order to preserve autonomy and to improve quality of life. However, more high-quality studies are needed to confirm these findings. […] The management of such disabilities requires a multidisciplinary approach. The RTT multidisciplinary team may include medical and surgical subspecialists, such as pediatricians, neurologists, child neuropsychiatrists, gastroenterologists, physiatrists, and orthopedic surgeons, and allied health professionals, such as dieticians, physiotherapists, speech and occupational therapists, psychologists, and specialized nurses.

• #23 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  The ketogenic diet may be helpful in patients with epilepsy that does not respond to usual pharmacologic treatments. […] Therapy that promotes ambulation, balance, and hand use is important. […] Optimal management of RS involves early multidisciplinary evaluation and treatment, including communication assessment, oral motor assessment, and various other assessments and therapies. […] Music, hydrotherapy, hippotherapy (ie, horseback riding), and massage are sometimes helpful.

• #24 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  occupational therapy to help develop the skills needed for dressing, feeding and other daily activities […] an ankle-foot orthosis (lower leg brace) to help them walk independently […] a hand splint to help control severe hand movements (they’re mainly used for limited periods to prevent self-injury or to encourage activities with the other hand) […] Therapeutic horse riding, swimming, hydrotherapy and music therapy have also been reported to be beneficial.

• #25 Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

  https://www.mdpi.com/2076-3425/10/7/410

  Physical therapy is a branch of rehabilitation and its aim is to preserve, enhance, or restore movement and physical function impaired or threatened by disease, injury, or disability, using therapeutic exercise, physical modalities, assistive devices, and patient education and training. Physiotherapy is an essential tool in the management of several neuromuscular diseases and genetic disorders, with quite strong evidence of effectiveness. […] Regardless of the type of intervention practiced, all studies included in this review demonstrated that physical therapy improved the quality of life in patients diagnosed with RTT, mainly helping to preserve autonomy. […] A series of physical therapies are currently available to reduce or prevent limitations in people with RTT and to improve their quality of life. Such physiotherapies range from traditional approaches, like joint mobilization and hydrotherapy, to innovative methods, e.g. virtual reality and assistive technologies, and to almost alternative interventions, such as music therapy.

• #26 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #27 Rett Syndrome: Symptoms, Causes, and Treatment Options

  https://www.webmd.com/brain/autism/rett-syndrome

  This can boost your childs ability to use their hands to do things such as putting on clothes and feeding themselves. […] Work with your childs doctor to make sure theyre eating a balanced diet, which is important for healthy growth and better mental, physical, and social skills. […] This might help if your child has certain behavior issues. It could also teach them good sleep habits that help them get a better nights rest. […] You can look into early intervention programs as well as school, social, and job-training services for your child. […] Although there is no cure, the first drug to control symptoms is now available.

• #28 Occupational Therapy for Rett Syndrome | Rett syndrome | Conditions | ASD clinic.co.uk | Social, behavioural & communication therapy

  https://www.asdclinic.co.uk/conditions/rett-syndrome/occupational-therapy-for-rett-syndrome.php

  Occupational Therapy may be helpful in improving several aspects of life of an individual with Rett Syndrome. It can help a child be more functional and comfortable on a daily basis. […] Occupational Therapy treatment will be dependent on the findings of a thorough assessment of each individual with Rett Syndrome. […] During each stage of Rett Syndrome different Occupational Therapy help will be required, again dependent on the individual’s specific needs. […] During Stage I, the Occupational Therapist may help in facilitating development. Here the focus is usually on the child’s hand skills and the Occupational Therapist will be able to provide various activities for parents/carers to use to help their child develop these movements. […] During Stage II, the Occupational Therapy normally focuses on maintaining the level of function. As this is the stage where the child will start to lose motor, language and communication skills it is important to try and maintain them as much as possible. The Occupational Therapist often uses play as an intervention to perform and practice motor and communication skills.

• #29 Occupational Therapy for Rett Syndrome | Rett syndrome | Conditions | ASD clinic.co.uk | Social, behavioural & communication therapy

  https://www.asdclinic.co.uk/conditions/rett-syndrome/occupational-therapy-for-rett-syndrome.php

  Occupational Therapy may be helpful in improving several aspects of life of an individual with Rett Syndrome. It can help a child be more functional and comfortable on a daily basis. […] Occupational Therapy treatment will be dependent on the findings of a thorough assessment of each individual with Rett Syndrome. […] During each stage of Rett Syndrome different Occupational Therapy help will be required, again dependent on the individual’s specific needs. […] During Stage I, the Occupational Therapist may help in facilitating development. Here the focus is usually on the child’s hand skills and the Occupational Therapist will be able to provide various activities for parents/carers to use to help their child develop these movements. […] During Stage II, the Occupational Therapy normally focuses on maintaining the level of function. As this is the stage where the child will start to lose motor, language and communication skills it is important to try and maintain them as much as possible. The Occupational Therapist often uses play as an intervention to perform and practice motor and communication skills.

• #30 Occupational Therapy for Rett Syndrome | Rett syndrome | Conditions | ASD clinic.co.uk | Social, behavioural & communication therapy

  https://www.asdclinic.co.uk/conditions/rett-syndrome/occupational-therapy-for-rett-syndrome.php

  Also at this stage, Occupational Therapy will help to teach the child how to perform activities of daily living independently. Many individuals with Rett Syndrome will experience difficulties in sensory processing. Occupational Therapists will provide sensory integration therapy to help aid the normal development of sensory systems. […] At Stage III, the Occupational Therapy sessions will focus on motivating the child to continue practising and maintain their physical skills. Occupational Therapists will also ensure that the child is well positioned throughout the day to help decrease the risk of contracture and deformities developing. […] At Stage IV, the final stage of Rett Syndrome, the focus will be on maintenance of skills as well as providing all necessary adaptive aids. Sensory stimulation activities can allow individuals with Rett Syndrome to have improved alertness and also allows them to respond to their environment.

• #31 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #32 Rett Syndrome: Symptoms, Causes, and Treatment Options

  https://www.webmd.com/brain/autism/rett-syndrome

  There’s no cure for this lifelong disorder, but early treatment may help your child adjust. […] Theres no cure for RTT, but treatments can help with a childs symptoms. They should get these treatments for their entire life. […] The best treatment options for Rett syndrome include: […] In 2023, trofinetide (Daybue) became the first FDA-approved drug to treat adults and children over 2 with Rett syndrome. Daybue can’t cure RTT, but it improves many of the symptoms. […] Physical therapy and using braces or casts can help children who need hand or joint support or who have scoliosis. Physical therapy can help them keep moving, sit more easily, walk better, and improve their balance and flexibility. […] If your child has trouble talking, this could help them learn nonverbal ways to communicate and socialize.

• #33 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  There’s no cure for Rett syndrome, so treatment focuses on managing the symptoms. […] Your child may benefit from some of the following treatments and aids: speech and language therapy, picture boards, eye gaze technology and other visual aids to help with communication, or ways to help them communicate such as Signalong, Makaton or PECS […] medicine for breathing and mobility problems, and anti-epileptic medicine to control seizures […] physiotherapy, attention to mobility, careful attention to your child’s sitting posture (to minimise the chances of scoliosis developing), and frequent changes in posture […] if scoliosis does become established, a back brace and sometimes spinal surgery may be used to prevent the spine curving further […] a high-calorie, low carbohydrate (ketogenic) diet to help maintain sufficient weight and help control seizures, with the use of a feeding tube and other feeding aids if necessary

• #34 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Physical therapy. Physical therapy and the use of braces or casts can help children who have scoliosis or require hand or joint support. In some cases, physical therapy can also help maintain movement, create a proper sitting position, and improve walking skills, balance and flexibility. Assistive devices such as a walker or wheelchair may be helpful. […] Occupational therapy. Occupational therapy may improve purposeful use of the hands for activities such as dressing and feeding. If repetitive arm and hand movements are a problem, splints that restrict elbow or wrist motion may be helpful. […] Speech-language therapy. Speech-language therapy can help improve a child’s life by teaching nonverbal ways of communicating and helping with social interaction. […] Nutritional support. Proper nutrition is extremely important for healthy growth and for improved mental, physical and social abilities. A high-calorie, well-balanced diet may be recommended. Feeding strategies to prevent choking or vomiting are important. Some children and adults may need to be fed through a tube placed directly into the stomach (gastrostomy).

• #35 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Individuals with gastroesophageal reflux (GER) may respond to conservative medical treatment with antireflux agents (eg, metoclopramide), thickened feeding solutions, and semiupright positioning at bedtime. AEDs may be prescribed to control seizurelike activity. […] Vagal nerve stimulation has generally been safe and well tolerated, with few surgical complications, increased alertness, and improved ability to participate in activities. […] If seizures are well controlled, addition of the Snoezelen multisensory approach, with or without hydrotherapy, may be considered. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. […] Many RS patients experience poor weight gain, despite excellent appetites. Improved weight gain and better seizure control have been reported when girls were given a high-calorie diet, with approximately 70% of calories from fats and 15% each from carbohydrates and proteins.

• #36 Rett syndrome

  https://www.nhs.uk/conditions/rett-syndrome/

  There’s no cure for Rett syndrome, so treatment focuses on managing the symptoms. […] Your child may benefit from some of the following treatments and aids: speech and language therapy, picture boards, eye gaze technology and other visual aids to help with communication, or ways to help them communicate such as Signalong, Makaton or PECS […] medicine for breathing and mobility problems, and anti-epileptic medicine to control seizures […] physiotherapy, attention to mobility, careful attention to your child’s sitting posture (to minimise the chances of scoliosis developing), and frequent changes in posture […] if scoliosis does become established, a back brace and sometimes spinal surgery may be used to prevent the spine curving further […] a high-calorie, low carbohydrate (ketogenic) diet to help maintain sufficient weight and help control seizures, with the use of a feeding tube and other feeding aids if necessary

• #37 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Behavioral intervention. Practicing and developing good sleep habits may be helpful for sleep disturbances. Therapies may help improve problem behaviors. […] Support services. Early intervention programs and school, social and job-training services may help with integration into school, work and social activities. Special adaptations may make participation possible.

• #38 Rett Syndrome: Symptoms, Causes, and Treatment Options

  https://www.webmd.com/brain/autism/rett-syndrome

  This can boost your childs ability to use their hands to do things such as putting on clothes and feeding themselves. […] Work with your childs doctor to make sure theyre eating a balanced diet, which is important for healthy growth and better mental, physical, and social skills. […] This might help if your child has certain behavior issues. It could also teach them good sleep habits that help them get a better nights rest. […] You can look into early intervention programs as well as school, social, and job-training services for your child. […] Although there is no cure, the first drug to control symptoms is now available.

• #39 Rett Syndrome: Symptoms, Causes, and Treatment – Apex ABA Therapy

  https://www.apexaba.com/blog/rett-syndrome

  Behavioral Therapy: Behavioral therapy, such as applied behavior analysis (ABA), can assist in managing challenging behaviors and developing adaptive skills. It uses evidence-based techniques to promote positive behaviors and reduce problem behaviors. […] Educational Interventions: Specialized educational interventions are crucial for individuals with Rett Syndrome. These interventions focus on maximizing learning potential, promoting social interactions, and accommodating individual needs within the educational setting. […] In addition to therapies and interventions, supportive care and symptom management are essential components of the treatment plan for Rett Syndrome. This involves addressing specific symptoms and associated medical conditions to improve the overall quality of life for individuals with Rett Syndrome.

• #40 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  Individuals with gastroesophageal reflux (GER) may respond to conservative medical treatment with antireflux agents (eg, metoclopramide), thickened feeding solutions, and semiupright positioning at bedtime. AEDs may be prescribed to control seizurelike activity. […] Vagal nerve stimulation has generally been safe and well tolerated, with few surgical complications, increased alertness, and improved ability to participate in activities. […] If seizures are well controlled, addition of the Snoezelen multisensory approach, with or without hydrotherapy, may be considered. […] If an RS patient cannot manage oral intake of food, a gastrostomy tube may be placed to minimize the risk of aspiration or recurrent pneumonias. […] Many RS patients experience poor weight gain, despite excellent appetites. Improved weight gain and better seizure control have been reported when girls were given a high-calorie diet, with approximately 70% of calories from fats and 15% each from carbohydrates and proteins.

• #41 Rett’s Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rett-syndrome

  Conventional antiepileptic drugs such as carbamazepine and sodium valproate have been used with success. […] Other therapeutic avenues include newer antiepileptic drugs such as topiramate and lamotrigine, ketogenic diets and vagal nerve stimulator medications or implants. […] Poor sleep patterns: Melatonin has been shown to be a potential treatment option for the management of sleep. […] Feeding is usually a problem to some degree, as is maintaining weight, so a high-calorie, relatively high-fat content diet helps, and is also of help to some patients with epilepsy, through its ketogenic effect: […] Supplemental feeding by nasogastric or gastrostomy routes may be used. […] If medical therapy for gastro-oesophageal reflux is ineffective, then surgical procedures such as fundoplication may be useful.

• #42 Rett’s Syndrome: Symptoms and Treatment | Doctor

  https://patient.info/doctor/rett-syndrome

  Scoliosis: Those cases with severe or function-limiting spinal curvature may benefit from surgical intervention. […] Osteoporosis is common in people with Rett syndrome. Vitamin D supplementation may be necessary for many cases. […] Communication may be difficult; however, non-verbal means should be assessed, explored and enhanced as much as possible: […] The use of picture boards and other visual aids to communication can be very helpful. […] Holistic therapy is thought to help some patients and appears to be popular with them and their families: […] Mobility aids include aids such as: […] Hinged ankle-foot orthoses to overcome hypertonia, which may help maintain independent walking. […] Hand splints that prevent the stereotyped hand movements, can reduce self-injury and agitation where they are particularly severe. […] Research continues to assess the potential of gene editing or gene replacement therapy for the management of Rett syndrome.

• #43 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  Learn more about the promising compounds and gene therapies being tested to treat Rett syndrome and view the most up-to-date status of their progress advancing through the research and clinical pipeline. […] More than 20 companies are actively working on treatments to improve the quality of life for individuals with Rett syndrome. […] The development of a new therapy for Rett syndrome must follow the path that regulatory bodies have established. […] The following companies have successfully completed clinical trials and received regulatory approval for a Rett syndrome treatment. […] In March 2023, the U.S. Food and Drug Administration (FDA) approved Acadia Pharmaceuticals Inc.s investigational drug, trofinetide, for the treatment of Rett syndrome. […] Clinical data from the open-label extension LILAC-1 (40 weeks) and LILAC-2 (32 months) studies evaluating long-term safety and efficacy was published in July 2024.

• #44 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  A Phase 4 clinical study of real-world usage of DAYBUE called LOTUS currently enrolls participants for at least 12 months from the initiation of treatment. […] In January 2024, Anavex announced topline results from the EXCELLENCE Phase 2/3 study in girls ages 5-17 with Rett syndrome in Australia, Canada, and the U.K. […] In March 2024, DepYmed received clearance from the U.S. FDA to initiate a Phase 1 clinical trial for DPM-1003 for the treatment of Rett syndrome. […] In March 2025, Minoryx announced the dosing of the first patient in its phase 2a clinical study of leriglitazone. […] NGN-401 is a gene replacement therapy that delivers the full-length human MECP2 gene under the control of Neurogenes EXACT technology. […] Neurotech reported positive results from their ongoing Phase I/II clinical trial in Australia of NTI164, a broad-spectrum medical cannabinoid drug therapy for the treatment of Rett syndrome, in May 2024.

• #45 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  TSHA-102 is a gene replacement therapy intended to deliver a functioning copy of MECP2 to the cells in the brain. […] ACTX-101 is an AAV9-delivered X-reactivation gene therapy for the treatment of Rett syndrome. […] AMO-4 is a glutamate modulator that has shown significant promise as a potential treatment for Rett syndrome based on extensive drug discovery screen in a mouse model completed through IRSFs Scout Program. […] NLX-101 is a novel compound that activates serotonin 5-HT1A receptors. […] Vorinostat (RVL-001) is a small molecule oral therapeutic identified by Unravels proprietary drug prediction platform as potentially beneficial for patients with Rett Syndrome. […] Herophilus is a neurotherapeutics startup using robotic automation to industrialize the organoid and scale up use of the next-generation human in vitro models in drug discovery experiments for brain diseases.

• #46 Gene Therapy | Rett Syndrome Research Trust

  https://reverserett.org/cures/gene-therapy/

  Gene therapy is the most expeditious way to translate the mouse model reversibility studies to people. The concept behind gene therapy is simple: deliver healthy genes to compensate for mutated genes. Gene therapy is expected to be a one-and-done strategy and is relevant for all MECP2 mutations. […] Improvements in Rett mice treated with gene therapy are much greater than that of any drug tested to date.

• #47 Targeting Rett syndrome at the source | Drug Discovery News

  https://www.drugdiscoverynews.com/targeting-rett-syndrome-at-the-source-16151

  Rett syndrome currently has no cure. Now, innovations in gene therapy bring the possibility of treating the root cause of the disease closer than ever before. […] In 2023, the Food and Drug Administration approved the drug trofinetide for Rett syndrome, but it only improves some symptoms of the condition. It doesn’t treat the root cause: loss of MECP2. […] After tackling challenges in expressing just the right amount of MECP2 in neurons as well as ensuring the therapy reached as many neurons as possible, two companies Neurogene and Taysha Gene Therapies now have gene therapies for Rett syndrome in Phase 1/2 clinical trials. […] They hope that the results will point to MECP2 gene therapy as a strategy to strike Rett syndrome at its source. […] With two promising gene therapies in the clinic, people with Rett syndrome are closer than ever before to having a treatment that can potentially reverse the cause of their condition.

• #48 Searching for a cure at CHOC’s Rett Syndrome Center of Excellence – CHOC Pediatrica

  https://care.choc.org/searching-for-cure-rett-syndrome/

  The FDA approved the first treatment for children with Rett syndrome in 2023. This medication, Trofinetide, may help improve physical and behavioral symptoms of Rett syndrome in children. Clinical trials have recently wrapped up for Blarcamesine, another medication that may improve symptoms. […] „Trofinetide can help patients be more interactive, but it is not a cure,” Dr. Pichon says. „However, new gene therapies may be potentially curative.” […] As an ISRF Center of Excellence, CHOC will now be able to offer clinical trials for gene therapies to patients. The clinic is currently seeking Institutional Review Board approval to become a trial site for gene therapy. […] „Gene therapies have been able to reverse Rett syndrome in mice, so the potential for it to be reversible in humans is worth investigating,” Dr. Pichon says. „But we need to do the clinical trials to make sure the therapies are safe and efficacious.”

• #49 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  A Phase 4 clinical study of real-world usage of DAYBUE called LOTUS currently enrolls participants for at least 12 months from the initiation of treatment. […] In January 2024, Anavex announced topline results from the EXCELLENCE Phase 2/3 study in girls ages 5-17 with Rett syndrome in Australia, Canada, and the U.K. […] In March 2024, DepYmed received clearance from the U.S. FDA to initiate a Phase 1 clinical trial for DPM-1003 for the treatment of Rett syndrome. […] In March 2025, Minoryx announced the dosing of the first patient in its phase 2a clinical study of leriglitazone. […] NGN-401 is a gene replacement therapy that delivers the full-length human MECP2 gene under the control of Neurogenes EXACT technology. […] Neurotech reported positive results from their ongoing Phase I/II clinical trial in Australia of NTI164, a broad-spectrum medical cannabinoid drug therapy for the treatment of Rett syndrome, in May 2024.

• #50 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  TSHA-102 is a gene replacement therapy intended to deliver a functioning copy of MECP2 to the cells in the brain. […] ACTX-101 is an AAV9-delivered X-reactivation gene therapy for the treatment of Rett syndrome. […] AMO-4 is a glutamate modulator that has shown significant promise as a potential treatment for Rett syndrome based on extensive drug discovery screen in a mouse model completed through IRSFs Scout Program. […] NLX-101 is a novel compound that activates serotonin 5-HT1A receptors. […] Vorinostat (RVL-001) is a small molecule oral therapeutic identified by Unravels proprietary drug prediction platform as potentially beneficial for patients with Rett Syndrome. […] Herophilus is a neurotherapeutics startup using robotic automation to industrialize the organoid and scale up use of the next-generation human in vitro models in drug discovery experiments for brain diseases.

• #51 Rett Research & Clinical Pipeline | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/about-rett-syndrome/pipeline/

  Lucy Therapeutics is a private biotech company developing therapies based on mitochondrial small-molecule treatments and biomarkers for neurological diseases. […] Prilenia is continuing preclinical evaluation of pridopidine, a sigma-1 receptor (S1R) agonist with neuroprotective properties administered orally twice daily, for the treatment of Rett syndrome. […] Stoke Therapeutics mission is to address the underlying cause of severe diseases by upregulating protein expression with RNA-based medicines. […] Vico Therapeutics is exploring taking an RNA editing approach to target Mecp2-R255X.

• #52 Rett Syndrome Treatment & Management: Approach Considerations, Pharmacologic Therapy, Nonpharmacologic Therapy

  https://emedicine.medscape.com/article/916377-treatment

  To maximize the abilities of patients with Rett syndrome (RS) requires the adoption of a comprehensive team approach. […] Various treatments have been used to manage epilepsy in persons with RS. The FDA approved trofinetide (Daybue), an oral solution, as the first treatment for Rett syndrome in March 2023. It is indicated for adults and children aged 2 years and older. Treatments range from conventional AEDs (eg, carbamazepine and valproic acid) to newer AEDs (eg, topiramate and lamotrigine), a ketogenic diet, and vagal nerve stimulation. […] The FDA approved trofinetide (Daybue), an oral solution, as the first treatment for Rett syndrome in March 2023. It is indicated for adults and children aged 2 years and older. […] Bromocriptine and carbidopa-levodopa, which are dopamine agonists, have been tried as treatments for motor dysfunction in persons with RS; however, benefits are neither substantial nor long lasting.

• #53 Evidence-Based Physical Therapy for Individuals with Rett Syndrome: A Systematic Review

  https://www.mdpi.com/2076-3425/10/7/410

  Rett syndrome is a rare genetic disorder that affects brain development and causes severe mental and physical disability. This systematic review analyzes the most recent evidence concerning the role of physical therapy in the management of individuals with Rett syndrome. […] According to the results, a multimodal individualized physical therapy program should be regularly recommended to patients with Rett syndrome in order to preserve autonomy and to improve quality of life. However, more high-quality studies are needed to confirm these findings. […] The management of such disabilities requires a multidisciplinary approach. The RTT multidisciplinary team may include medical and surgical subspecialists, such as pediatricians, neurologists, child neuropsychiatrists, gastroenterologists, physiatrists, and orthopedic surgeons, and allied health professionals, such as dieticians, physiotherapists, speech and occupational therapists, psychologists, and specialized nurses.

• #54 A Reason for Hope in Rett Syndrome: New Medications, Novel Gene Therapies

  https://www.psychiatrist.com/news/a-reason-for-hope-in-rett-syndrome-new-medications-novel-gene-therapies/

  Clinical Relevance: New treatments and some clinical trials show promise for treating Rett syndrome […] There is no cure for Rett syndrome, but patients have better quality of life thanks to new advancements and care by a multidisciplinary team. […] RTT treatment requires a multidisciplinary approach: Neurologists may treat a patients seizures. Psychiatrists can offer psychological support. Sleep medicine specialists may sometimes manage mood and sleep disorders. Respiratory therapists, cardiologists, gastroenterologists, and orthopedists often round out the medical care team. There is no cure for Rett syndrome. But certain comorbidities typically associated with RTT are treatable. There are, for example, medications for epilepsy and anxiety-related GI and respiratory issues. […] One recent development is the use of a drug called IGF-1 (insulin-like growth factor 1.). In some studies, the therapy improved brain function and communication skills in individuals with Rett Syndrome. Gene therapy is also showing some promise. By modifying or replacing defective genes, scientists can correct the underlying genetic cause of the disorder.

• #55 Rett Syndrome | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/rett-syndrome

  While there is no cure for Rett syndrome, in 2023, the U.S. Food and Drug Administration (FDA) approved a new drug, Trofinetide, to treat Rett syndrome in children age two and older. Trofinetide works by reducing swelling in the brain, increasing the amount of a protective protein in the brain, and stopping some cells from becoming too active. […] Other treatments focus on treating specific symptoms or behaviors seen in Rett syndrome. Medication can help with breathing and movement problems and seizures. […] Individuals affected by Rett syndrome should be regularly monitored for scoliosis (curving in the spine) and heart problem. Occupational therapy may help children develop skills needed for everyday activities like dressing, eating, and drawing, while physical therapy and water therapy (hydrotherapy) can help with mobility.

• #56 Rett Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-neurologic-anomalies/rett-syndrome

  Treatment of Rett Syndrome […] Management of symptoms […] Multidisciplinary team support […] Treatment of seizures and behavior disturbances with antiseizure and behavioral medications […] Possible use of trofinetide […] There is no cure for Rett syndrome. […] Optimal treatment of Rett syndrome includes a multidisciplinary approach that addresses symptoms and signs. […] A program of occupational therapy, physical therapy, and communication therapy (with a speech and language therapist) should be provided to address self-help skills such as feeding and dressing, limited mobility, walking difficulty, and communication deficits. […] Medications may be needed to control seizures and behavior disturbances, for breathing dysfunction, or for motor difficulties. […] Trofinetide, a synthetic analog of the N-terminal tripeptide of Trofinetide, a synthetic analog of the N-terminal tripeptide of insulin-like growth factor I, is available for the treatment of Rett syndrome in adults and children 2 years of age and older. Trofinetide produced modest improvement in these areas in clinical trials. […] Regular re-evaluation is needed for scoliosis progression and to monitor cardiac abnormalities. […] Nutrition support may be needed to help affected children maintain weight. Special education programs and social and support services are needed.

• #57 Rett syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/rett-syndrome/diagnosis-treatment/drc-20377233

  Behavioral intervention. Practicing and developing good sleep habits may be helpful for sleep disturbances. Therapies may help improve problem behaviors. […] Support services. Early intervention programs and school, social and job-training services may help with integration into school, work and social activities. Special adaptations may make participation possible.

• #58 Rett Syndrome | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/rett-syndrome

  Some children may require special equipment and aids like spinal braces, splints for their hands and wrists, and nutritional support to help them maintain adequate weight. Children with Rett syndrome may need extra help with school and social support. […] Many individuals with Rett syndrome live into middle age and beyond, despite the symptoms.

• #59 Rett Syndrome | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/rett-syndrome

  Theres no cure for Rett syndrome. However, research is underway on new drugs that may improve management of symptoms. […] Your child should be able to attend school, but may need special accommodations. Getting early treatment, including physical therapy, speech therapy, and occupational therapy, can help your child learn and communicate.

• #60 Research. Family Support. Advocacy. | International Rett Syndrome Foundation

  https://www.rettsyndrome.org/

  We have a track record of delivering real results: our highly comprehensive scientific program bolstered by unprecedented industry partnerships is the only one to include advancing genetic approaches, developing drug treatments, clinical research, and more. […] Discover the latest on Rett syndrome research and the progress of the companies working to treat and cure the disorder. […] Our understanding of how Rett syndrome works and how to successfully treat it is advancing more rapidly than ever before. Treatments and cures are not an if, but a when. […] This first-ever treatment is approved for individuals with Rett syndrome. […] Our commitment to setting up the next wave of Rett breakthroughs continues with the largest annual investment in our Foundations history. […] We are excited to share that Neurogene announced today that the FDA approved their Investigational New Drug Application (IND) to launch a clinical trial for their gene therapy treatment NGN-401 in Rett syndrome. […] Today, Acadia Pharmaceuticals announced they have acquired the rights to make trofinetide available for the treatment of Rett syndrome across the globe.

• #61 Rett Syndrome Diagnosis, Treatment & Future Research

  https://www.mastermindbehavior.com/post/rett-syndrome-diagnosis

  It’s important to note that the prognosis can be positively influenced by early diagnosis and access to appropriate treatments and interventions. […] These ongoing research efforts and advancements in our understanding of Rett syndrome provide a beacon of hope for individuals and families affected by this condition.

• #62 Rett Syndrome | National Institute of Neurological Disorders and Stroke

  https://www.ninds.nih.gov/health-information/disorders/rett-syndrome

  Some children may require special equipment and aids like spinal braces, splints for their hands and wrists, and nutritional support to help them maintain adequate weight. Children with Rett syndrome may need extra help with school and social support. […] Many individuals with Rett syndrome live into middle age and beyond, despite the symptoms.

• #63 A perspective on “cure” for Rett syndrome | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0786-6

  A treatment that manages to inactivate the X chromosome carrying the damaged copy of the MECP2 gene could resume production of functional MECP2 protein from the intact copy on the other X chromosome. […] Gene editing is a powerful new technology that could correct most of the MECP2 mutations causing Rett syndrome. […] Whichever strategy is chosen, there is no doubt that some form of treatment for Rett syndrome will be available soon. […] These are symptomatic treatments, not cures, as they dont tackle the root cause, i.e. the disruption to the MECP2 gene that results in deficiency of the MECP2 protein. […] Based on animal experiments, this appears to be a warranted concern. […] Furthermore, the re-expression of MECP2 in people with Rett syndrome is likely to increase the volume of their brains.

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