RSR: Rett Syndrome Registry

Sponsor

International Rett Syndrome Foundation (Other)

Overall Status

Recruiting

CT.gov ID

NCT05432349

Collaborator

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

3,000

Enrollment

Locations

Anticipated Duration (Months)

214.3

Patients Per Site

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Rett Syndrome Rett Syndrome, Atypical Genetic Disease Genetic Diseases, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Neurologic Disorder Neurodevelopmental Disorders Nervous System Diseases

Study Design

Study Type:

Observational [Patient Registry]

Anticipated Enrollment :

3000 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Rett Syndrome Real World Data Observational Registry

Anticipated Study Start Date :

Jul 1, 2022

Anticipated Primary Completion Date :

Jul 1, 2027

Anticipated Study Completion Date :

Jul 1, 2028

Outcome Measures

Primary Outcome Measures

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).

Eligibility Criteria

Criteria

Ages Eligible for Study:

0 Years to 99 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Alabama	Birmingham	Alabama	United States	35233
2	UCSF Benioff Children's Hospital	Oakland	California	United States	94609
3	Children's Hospital Colorado	Denver	Colorado	United States	80045
4	Rush University Medical Center	Chicago	Illinois	United States	60612
5	Kennedy Krieger Institute	Baltimore	Maryland	United States	21205
6	Boston Children's Hospital	Boston	Massachusetts	United States	02115
7	Gillette Children's Specialty Healthcare	Saint Paul	Minnesota	United States	55101
8	Washington University in St. Louis	Saint Louis	Missouri	United States	63110
9	The Children's Hospital at Montefiore	Bronx	New York	United States	10467
10	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	United States	19104
11	Greenwood Genetic Center	Greenwood	South Carolina	United States	29646
12	Vanderbilt Kennedy Center	Nashville	Tennessee	United States	37232
13	Children's Health	Dallas	Texas	United States	75207
14	Texas Children's Hospital	Houston	Texas	United States	77030