Reviewed by Michael Gill, B. Sc.
8 Rett Syndrome Clinical Trials Near Me
Top Hospitals for Rett Syndrome Clinical Trials
Image of Vanderbilt University Medical Center in Tennessee.
Vanderbilt University Medical Center
2Active Trials
5All Time Trials for Rett Syndrome
2019First Rett Syndrome Trial
Image of University of Alabama at Birmingham in Alabama.
University of Alabama at Birmingham
2Active Trials
8All Time Trials for Rett Syndrome
2006First Rett Syndrome Trial
Top Cities for Rett Syndrome Clinical Trials
Image of Saint Louis in Missouri.
Saint Louis
2Active Trials
Washington UniversityTop Active Site
Image of Nashville in Tennessee.
2Active Trials
Vanderbilt University Medical CenterTop Active Site
Rett Syndrome Clinical Trials by Phase of Trial
Phase 1 & 2 Rett Syndrome Clinical Trials
1Active Rett Syndrome Clinical Trials
1Number of Unique Treatments
1Number of Active Locations
Rett Syndrome Clinical Trials by Age Group
Most Recent Rett Syndrome Clinical Trials
Clinical Trial
Began Recruiting Date
Top Treatments for Rett Syndrome Clinical Trials
Treatment Name
Active Rett Syndrome Clinical Trials
All Time Trials for Rett Syndrome
First Recorded Rett Syndrome Trial
Cohort 1
Modified Virtual Reality Gaming
ANAVEX2-73 oral liquid

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.

About The Author

Michael Gill preview

Michael Gill - B. Sc.

First Published: October 26th, 2021

Last Reviewed: November 7th, 2022

Michael Gill holds a Bachelors of Science in Integrated Science and Mathematics from McMaster University. During his degree he devoted considerable time modeling the pharmacodynamics of promising drug candidates. Since then, he has leveraged this knowledge of the investigational new drug ecosystem to help his father navigate clinical trials for multiple myeloma, an experience which prompted him to co-found Power Life Sciences: a company that helps patients access randomized controlled trials.

References1 Heussler HS. Emerging Therapies and challenges for individuals with Angelman syndrome. Curr Opin Psychiatry. 2021 Mar 1;34(2):123-128. doi: 10.1097/YCO.0000000000000674. Heussler HS. Emerging Therapies and challenges for individuals with Angelman syndrome. Curr Opin Psychiatry. 2021 Mar 1;34(2):123-128. doi: 10.1097/YCO.0000000000000674. Review. Erratum in: Curr Opin Psychiatry. 2021 Sep 1;34(5):514. Heussler HS. Emerging Therapies and challenges for individuals with Angelman syndrome. Curr Opin Psychiatry. 2021 Mar 1;34(2):123-128. doi: 10.1097/YCO.0000000000000674. Erratum In: Curr Opin Psychiatry. 2021 Sep 1;34(5):514. Mraz, K, Eisenberg G, Diener P, Amadio G, Foreman MH, Engsberg JR. The Effects of Virtual Reality on the Upper Extremity Skills of Girls with Rett Syndrome: A Single Case Study. J of Intellect Disabil- Diagnosis and Treatment. 2016, 4(3):152-9. 5 Hou W, Bhattacharya U, Pradana WA, Tarquinio DC. Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behavioural Questionnaire. Pediatr Neurol. 2020 Jun;107:48-56. doi: 10.1016/j.pediatrneurol.2020.01.009. Epub 2020 Feb 4. McAmis NE, Foreman MH, Himmelrich MD, Diener PS and Engsberg JR. Development of a Method to Use a Color Tracker for Motor Therapy for Individuals with Rett Syndrome. SM J Pediatr. 2017; 2(2): 1012. 7 Mraz KM, Amadio G, Diener P, Eisenberg G, Engsberg JR. Improving upper extremity motor skills in girls with rett syndrome using virtual reality. J of Intellect Disabil - Diagnosis and Treatment, 2016, 4(3):142-151.