Rett Syndrome Real World Data Observational Registry
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 3,000
- Locations
- 25
- Primary Endpoint
- Natural History
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 0 Years to 99 Years (Child, Adult, Older Adult)
- Sex
- All
- Accepts 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
Outcomes
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).
Secondary Outcomes
No secondary outcomes reported