Browse 8 Rett Syndrome Medical Studies Across 29 Cities
3 Phase 3 Trial · 37 Rett Syndrome Clinics
What Are Rett Syndrome Clinical Trials?
Rett syndrome is a rare genetic neurodevelopmental disorder identified by an Austrian physician Dr. Andreas Rett in 1966. This disorder affects girls almost exclusively and is characterized by slowing development, distinctive hand movements, and seizures. Other symptoms of Rett syndrome may include loss of intentional hand mobility, loss of speech, loss of muscle tone, scoliosis, sleep disturbances, seizures, breathing troubles, and slowed growth rate for hands, feet, and head.
Rett syndrome is caused by gene mutations on a gene called MECP2 in the X chromosome. It’s first recognized in infancy and can lead to severe impairment, affecting the child’s ability to walk, speak, eat, and even breathe. The severity of the disorder is determined by the type, severity, and location of the gene mutation. Rett syndrome clinical trials are studies that help medical professionals find ways to determine treatment plans for this condition and discover its underlying genetic roots for informed future care.
Why Is Rett Syndrome Being Studied Through Clinical Trials?
Rett syndrome is a rare disorder that almost exclusively affects girls and women. This condition requires the affected individual to need caregiver support for their whole life. It also gives birth to additional symptoms that can affect the individual’s quality of life. Since it’s a rare condition, medical professionals must conduct thorough research to understand it and discover new treatments.
Since this disorder does not have a cure, Rett syndrome clinical trials can help test new drugs to determine their safety and efficacy before they are used to treat this disorder. There are multiple phases of such clinical trials that test the safety of this drug and its effectiveness in real-life applications. Moreover, Rett clinical trials can discover genetic solutions for this disorder and develop future screening, treatment, and management plans.
What Are The Types of Treatments Available for Rett Syndrome?
There is no known cure for Rett syndrome, but supportive and symptomatic treatment for this rare disorder is available. People who suffer from Rett syndrome need medications to counter breathing and motor difficulties and anticonvulsant medications to control their seizures. The doctor will also monitor the patient for possible heart abnormalities and scoliosis.
For children with Rett syndrome, occupational therapy helps develop the skills required to perform everyday activities. Meanwhile, hydrotherapy and physical therapy can prolong mobility. Some patients might need special aids and equipment, such as braces, splints, and nutritional programs to manage the symptoms.
What Are Some Recent Breakthrough Clinical Trials for Rett Syndrome?
There have been multiple COPD clinical trials in recent times. Here are the most notable ones:
2019: Randomized, Double-Blind, Placebo-Controlled Trial of Trofinetide in Pediatric Rett Syndrome – This study was performed to test the safety or tolerability and clinical response to trofinetide in 82 children and adolescents aged 5-15 with Rett syndrome. The trial was a success as the participants tolerated different dose levels of trofinetide well. The results suggested that trofinetide can be used for treating core Rett syndrome symptoms and support future trials.
2016-2021: Biobanking of RTT and Related Disorders – This Rett syndrome study is designed to understand the natural history of RTT, MECP2 Dup, other RTT-related disorders, and individuals with MECP2 mutations who don’t have Rett syndrome. It collected biological materials, such as DNA, RNA, cell lines, and plasma, from affected individuals and unaffected family members to perform a comprehensive evaluation to identify more biological factors that impact disease severity. These results will help future characterization and understanding of these conditions.
Who Are Some of the Key Opinion Leaders / Researchers / Institutions Conducting Rett Syndrome Trial Research?
International Rett Syndrome Foundation (IRSF)
The International Rett Syndrome Foundation invests in projects contributing to foundational Rett syndrome research. The organization also empowers families with Rett patients to get involved in such research to save the lives of their loved ones and benefit other current and future Rett patients.
Rett Syndrome Research Trust
Rett Syndrome Research Trust is a nonprofit organization focused on finding a cure for Rett syndrome. It has worked on developing a CURE 360 blueprint which comprises research strategies that tackle Rett syndrome from all possible angles to find a genetic solution for this disorder.