NCT05432349 · International Rett Syndrome Foundation
Rett Syndrome Registry
(RSR)
What this study is 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.
View original scientific description
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.
Primary outcome measures
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).
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
Where
- Birmingham, Alabama
- Los Angeles, California
- Oakland, California
- San Diego, California
- Denver, Colorado
- Miami, Florida
- Chicago, Illinois
- Baltimore, Maryland
- Boston, Massachusetts
- Saint Paul, Minnesota
- St Louis, Missouri
- Chapel Hill, North Carolina
And 7 more locations — see the full list below.
Collaborators
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
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 30, 2026 · Source of record for eligibility and locations