Rett Syndrome Registry

NCT05432349 | Recruiting

• 1 other identifier: Pro00060206
• Study Type: observational
• Target: 3,000
• Locations: 1 country
• Sites: 18

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.

Conditions

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

Keywords

Rett syndrome; MECP2; Neurodevelopmental disorder; Registry; Natural History Study

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 0 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The study population is males and females of all ages with a loss of function alteration of the MECP2 gene, most commonly resulting in Rett syndrome.

You may qualify if:

• Male or female with a pathologic loss of function alteration of MECP2

You may not qualify if:

• Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication

Sponsors & Collaborators

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

Study Sites (18)

University of Alabama

Birmingham, Alabama, 35233, United States

RECRUITING

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

NOT YET RECRUITING

UCSF Benioff Children's Hospital

Oakland, California, 94609, United States

RECRUITING

Children's Hospital Colorado

Denver, Colorado, 80045, United States

RECRUITING

Rush University Medical Center

Chicago, Illinois, 60612, United States

RECRUITING

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Gillette Children's Specialty Healthcare

Saint Paul, Minnesota, 55101, United States

RECRUITING

Washington University in St. Louis

St Louis, Missouri, 63110, United States

RECRUITING

The Children's Hospital at Montefiore

The Bronx, New York, 10467, United States

RECRUITING

The University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, 27517, United States

NOT YET RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

NOT YET RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

NOT YET RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

Greenwood Genetic Center

Greenwood, South Carolina, 29646, United States

RECRUITING

Vanderbilt Kennedy Center

Nashville, Tennessee, 37232, United States

RECRUITING

Children's Health

Dallas, Texas, 75207, United States

RECRUITING

Texas Children's Hospital

Houston, Texas, 77030, United States

RECRUITING

MeSH Terms

Conditions

Rett Syndrome; Rett Syndrome, Atypical; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Neurodevelopmental Disorders

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Mental Disorders

Central Study Contacts

Dominique C. Pichard, MD

CONTACT

513-874-3020; research@rettsyndrome.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 5, 2022
• First Posted: June 27, 2022
• Study Start: August 2, 2022
• Primary Completion (Estimated): July 1, 2027
• Study Completion (Estimated): July 1, 2028
• Last Updated: January 11, 2023

Record last verified: 2023-01

Locations

US (18)