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Registry for individuals with Rett syndrome

Rett Syndrome Real World Data Observational Registry

Observational International Rett Syndrome Foundation · NCT05432349

This study is gathering information from people with Rett syndrome and their caregivers to help improve care and develop new treatments for the condition.

Quick facts

Study typeObservational
Enrollment3000 (estimated)
Ages0 Years to 99 Years
SexAll
SponsorInternational Rett Syndrome Foundation Academic / other
Locations18 sites (Birmingham, Alabama and 17 other locations)
Trial IDNCT05432349 on ClinicalTrials.gov

What this trial studies

The Rett Syndrome Registry is a longitudinal observational study focused on individuals with MECP2 mutations diagnosed with Rett syndrome. It aims to collect comprehensive data on the signs and symptoms of Rett syndrome from both experts and caregivers. This information will help develop consensus-based guidelines for care and enhance the design of future clinical trials and drug development efforts for Rett syndrome.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with Rett syndrome who have a pathologic loss of function alteration of the MECP2 gene.

Not a fit: Patients with gain of function alterations of MECP2, such as those with MECP2 duplication or triplication, may not benefit from this study.

Why it matters

Potential benefit: If successful, this registry could lead to improved care guidelines and more effective treatments for individuals with Rett syndrome.

How similar studies have performed: Other observational studies focusing on genetic disorders have shown success in improving understanding and treatment approaches, indicating that this registry could also be beneficial.

Eligibility criteria

Show full inclusion / exclusion 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

Where this trial is running

Birmingham, Alabama and 17 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Rett SyndromeRett Syndrome, AtypicalGenetic DiseaseGenetic Diseases, X-LinkedIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsNeurologic Disorder
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.