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
Recruitment Status
Recruiting
Eligibility Criteria
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
Gender
All
Min Age
0 Years
Max Age
99 Years
Download Date
January 11, 2023
Principal Investigator
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
Primary Contact Information
aislynn.manley@childrens.harvard.edu
This field has been modified from ClinicalTrials.gov to show a contact specific to Boston Children's.
For more information on this trial, visit clinicaltrials.gov.
Contact
For more information and to contact the study team: