Rett Syndrome Registry

NCT ID: NCT05432349

Last Updated: 2023-01-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

3000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-08-02

Study Completion Date

2028-07-31

Brief Summary

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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

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Conditions

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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

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

0 Years

Maximum Eligible Age

99 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role collaborator

Children's Health UTSW

UNKNOWN

Sponsor Role collaborator

Children's Hospital Colorado

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

Gillette Children's Specialty Healthcare

OTHER

Sponsor Role collaborator

Greenwood Genetic Center

OTHER

Sponsor Role collaborator

Hugo W. Moser Research Institute at Kennedy Krieger, Inc.

OTHER

Sponsor Role collaborator

Montefiore Medical Center

OTHER

Sponsor Role collaborator

Rush University

OTHER

Sponsor Role collaborator

St. Louis Children's Hospital

OTHER

Sponsor Role collaborator

Baylor College of Medicine

OTHER

Sponsor Role collaborator

University of Alabama at Birmingham

OTHER

Sponsor Role collaborator

UCSF Benioff Children's Hospital Oakland

OTHER

Sponsor Role collaborator

Vanderbilt University Medical Center

OTHER

Sponsor Role collaborator

Hive Networks

UNKNOWN

Sponsor Role collaborator

International Rett Syndrome Foundation

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Alabama

Birmingham, Alabama, United States

Site Status RECRUITING

Children's Hospital Los Angeles

Los Angeles, California, United States

Site Status NOT_YET_RECRUITING

UCSF Benioff Children's Hospital

Oakland, California, United States

Site Status RECRUITING

Children's Hospital Colorado

Denver, Colorado, United States

Site Status RECRUITING

Rush University Medical Center

Chicago, Illinois, United States

Site Status RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Gillette Children's Specialty Healthcare

Saint Paul, Minnesota, United States

Site Status RECRUITING

Washington University in St. Louis

St Louis, Missouri, United States

Site Status RECRUITING

The Children's Hospital at Montefiore

The Bronx, New York, United States

Site Status RECRUITING

The University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States

Site Status NOT_YET_RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status NOT_YET_RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status NOT_YET_RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

Greenwood Genetic Center

Greenwood, South Carolina, United States

Site Status RECRUITING

Vanderbilt Kennedy Center

Nashville, Tennessee, United States

Site Status RECRUITING

Children's Health

Dallas, Texas, United States

Site Status RECRUITING

Texas Children's Hospital

Houston, Texas, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Dominique C. Pichard, MD

Role: CONTACT

513-874-3020

Other Identifiers

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Pro00060206

Identifier Type: -

Identifier Source: org_study_id

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