Rett Syndrome Registry

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.

Recruiting

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Key information

Conditions

Rett Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Disorder Neurologic Manifestations Pathological Conditions, Signs and Symptoms Rett Syndrome, Atypical Signs and Symptoms X-Linked Intellectual Disability

Age range

0 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Alabama, Birmingham, Alabama, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Natural History

Time frame: 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).

Study contacts

Contact information is provided by the study sponsor or research team.

Dominique Pichard

CONTACT

[email protected]

513-874-3020

Sponsors and collaborators

Lead sponsor

International Rett Syndrome Foundation

Other

Collaborators

Baylor College of Medicine
Boston Children's Hospital
Children's Health UTSW
Children's Hospital Colorado
Children's Hospital Los Angeles
Children's Hospital Medical Center, Cincinnati
Children's Hospital of Philadelphia
Gillette Children's Specialty Healthcare
Greenwood Genetic Center
Hive Networks
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Nationwide Children's Hospital
Nicklaus Children's Hospital
Rady Children's Hospital, San Diego
Rush University
St. Louis Children's Hospital
UCSF Benioff Children's Hospital Oakland
University of Alabama at Birmingham
University of North Carolina, Chapel Hill
Vanderbilt University Medical Center

Registry information

Official study title

Rett Syndrome Real World Data Observational Registry

Acronym: RSR

Important dates

Study start: 2022
Primary completion: 2027
Study completion: 2028
First posted: Jun 27, 2022
Registry last updated: Jun 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting