Rett Syndrome Registry (RSR)

International Rett Syndrome Foundation

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT05432349

Pro00060206

Details and patient eligibility

About

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.

Enrollment: 3,000 estimated patients

Sex: All

Ages: Under 99 years old

Volunteers: No 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