Rett Syndrome Registry

Recruiting

• Conditions: Rett Syndrome; Genetic Diseases, X-Linked; Intellectual Disability; Nervous System Diseases; Genetic Disease; Neurologic Manifestations; Neurologic Disorder; Neurodevelopmental Disorders; Rett Syndrome, Atypical; Neurobehavioral Manifestations

• Registration Number: NCT05432349
• Lead Sponsor: International Rett Syndrome Foundation

Brief Summary

The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-04-05
• Study First Submitted QC: 2022-06-20
• Study First Posted: 2022-06-27
• Study Start: 2022-08-02
• Status Verified: 2023-01
• Last Update Submitted: 2023-01-09
• Last Update Posted: 2023-01-11
• Primary Completion: 2027-07
• Study Completion: 2028-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 3000

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Natural History	5 years	To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).

Trial Locations

Locations (18)

Kennedy Krieger Institute; 🇺🇸 Baltimore, Maryland, United States

Cincinnati Children's Hospital Medical Center; 🇺🇸 Cincinnati, Ohio, United States

Gillette Children's Specialty Healthcare; 🇺🇸 Saint Paul, Minnesota, United States

Nationwide Children's Hospital; 🇺🇸 Columbus, Ohio, United States

Vanderbilt Kennedy Center; 🇺🇸 Nashville, Tennessee, United States

Rush University Medical Center; 🇺🇸 Chicago, Illinois, United States

Children's Health; 🇺🇸 Dallas, Texas, United States

Greenwood Genetic Center; 🇺🇸 Greenwood, South Carolina, United States

Children's Hospital Los Angeles; 🇺🇸 Los Angeles, California, United States

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States

University of Alabama; 🇺🇸 Birmingham, Alabama, United States

Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States

Texas Children's Hospital; 🇺🇸 Houston, Texas, United States

Children's Hospital Colorado; 🇺🇸 Denver, Colorado, United States

The University of North Carolina at Chapel Hill; 🇺🇸 Chapel Hill, North Carolina, United States

UCSF Benioff Children's Hospital; 🇺🇸 Oakland, California, United States

Washington University in St. Louis; 🇺🇸 Saint Louis, Missouri, United States

The Children's Hospital at Montefiore; 🇺🇸 Bronx, New York, United States