Rett Syndrome Registry

Nervous System Diseases Clinical Trial

— RSR  

Official title:

Rett Syndrome Real World Data Observational Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05432349
• Other study ID #: Pro00060206
• Status: Recruiting
• Start date: August 2, 2022
• Est. completion date: July 2028

Study information

• Verified date: January 2023
• Source: International Rett Syndrome Foundation
• Contact: Dominique C. Pichard, MD
• Phone: 513-874-3020
• Email: research[@]rettsyndrome.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 3000
• Est. completion date: July 2028
• Est. primary completion date: July 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

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

Locations

Country	Name	City	State
United States	Kennedy Krieger Institute	Baltimore	Maryland
United States	University of Alabama	Birmingham	Alabama
United States	Boston Children's Hospital	Boston	Massachusetts
United States	The Children's Hospital at Montefiore	Bronx	New York
United States	The University of North Carolina at Chapel Hill	Chapel Hill	North Carolina
United States	Rush University Medical Center	Chicago	Illinois
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	Children's Health	Dallas	Texas
United States	Children's Hospital Colorado	Denver	Colorado
United States	Greenwood Genetic Center	Greenwood	South Carolina
United States	Texas Children's Hospital	Houston	Texas
United States	Children's Hospital Los Angeles	Los Angeles	California
United States	Vanderbilt Kennedy Center	Nashville	Tennessee
United States	UCSF Benioff Children's Hospital	Oakland	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Washington University in St. Louis	Saint Louis	Missouri
United States	Gillette Children's Specialty Healthcare	Saint Paul	Minnesota

Sponsors (16)

Lead Sponsor

Collaborator

International Rett Syndrome Foundation

Baylor College of Medicine, Boston Children's Hospital, Children's Health UTSW, Children's Hospital Colorado, Children's Hospital of Philadelphia, Gillette Children's Specialty Healthcare, Greenwood Genetic Center, Hive Networks, Hugo W. Moser Research Institute at Kennedy Krieger, Inc., Montefiore Medical Center, Rush University, St. Louis Children's Hospital, UCSF Benioff Children's Hospital Oakland, University of Alabama at Birmingham, Vanderbilt University Medical Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Natural History	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).	5 years