Genetic Disease, Genetic Diseases, X-Linked, Intellectual Disability, Nervous System Diseases, Neurobehavioral Manifestations, Neurodevelopmental Disorders, Neurologic Disorder, Neurologic Manifestations, Rett Syndrome, Rett Syndrome, Atypical
Conditions
Keywords
Rett syndrome, MECP2, Neurodevelopmental disorder, Registry, Natural History Study
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.
Interventions
None listed
Sponsors
International Rett Syndrome Foundation
Boston Children's Hospital
Children's Health UTSW
Children's Hospital Colorado
Children's Hospital of Philadelphia
Gillette Children's Specialty Healthcare
Greenwood Genetic Center
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Rush University
St. Louis Children's Hospital
Baylor College of Medicine
University of Alabama at Birmingham
UCSF Benioff Children's Hospital Oakland
Vanderbilt University Medical Center
Hive Networks
Nationwide Children's Hospital
Children's Hospital Medical Center, Cincinnati
Nicklaus Children's Hospital
University of North Carolina, Chapel Hill
Children's Hospital Los Angeles
Rady Children's Hospital, San Diego
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 99 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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). |
Countries
United States
Contacts
CONTACTDominique Pichard
Outcome results
None listed