Rett Syndrome Registry
Launched by INTERNATIONAL RETT SYNDROME FOUNDATION · Jun 20, 2022
Trial Information
Current as of June 26, 2025
Recruiting
Keywords
ClinConnect Summary
The Rett Syndrome Registry is a research study that aims to better understand Rett syndrome, a genetic condition caused by changes in the MECP2 gene. This study is looking for individuals of all ages who have been diagnosed with Rett syndrome due to specific changes in the MECP2 gene. By gathering information from both healthcare experts and the caregivers of those affected, the registry will help create guidelines for managing Rett syndrome and improve future clinical trials for new treatments.
If you or a loved one has a confirmed MECP2 mutation that causes Rett syndrome, you may be eligible to participate in this study. The researchers are currently recruiting participants, and anyone interested can join, regardless of their age or gender. Participants will provide important information about their experiences, which will contribute to a better understanding of the condition and how to care for those living with it. This study is an important step towards improving the lives of individuals with Rett syndrome and supporting their families.
Gender
ALL
Eligibility criteria
- Inclusion Criteria:
- • Male or female with a pathologic loss of function alteration of MECP2
- Exclusion Criteria:
- • Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication
About International Rett Syndrome Foundation
The International Rett Syndrome Foundation (IRSF) is a leading nonprofit organization dedicated to advancing research, awareness, and advocacy for individuals affected by Rett syndrome, a rare neurodevelopmental disorder primarily impacting females. The foundation collaborates with researchers, healthcare professionals, and families to promote innovative clinical trials and therapeutic interventions aimed at improving quality of life and outcomes for those with Rett syndrome. Through funding initiatives, educational programs, and community support, the IRSF strives to foster a deeper understanding of the disorder while accelerating the path to effective treatments and potential cures.
Contacts
Jennifer Cobb
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Locations
Philadelphia, Pennsylvania, United States
Chicago, Illinois, United States
Cincinnati, Ohio, United States
Los Angeles, California, United States
Baltimore, Maryland, United States
Houston, Texas, United States
Birmingham, Alabama, United States
Columbus, Ohio, United States
Saint Louis, Missouri, United States
Boston, Massachusetts, United States
Greenwood, South Carolina, United States
Bronx, New York, United States
Denver, Colorado, United States
Chapel Hill, North Carolina, United States
Saint Paul, Minnesota, United States
Oakland, California, United States
Dallas, Texas, United States
Nashville, Tennessee, United States
Patients applied
Timeline
First submit
Trial launched
Trial updated
Estimated completion
Not reported
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