The Rett Syndrome Global Registry

NCT04900493 | Recruiting

• 1 other identifier: Rett-Registry
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief Summary

The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.

Conditions

Rett Syndrome

Keywords

MECP2; Registry; RSRT

Outcome Measures

Primary Outcomes (7)

• Frequency of genetic mutation types and clinical diagnoses.

  Measured by data obtained from genetic reports and caregiver-reported clinical diagnoses of enrolled patients.

  1 year

• Caregiver report of developmental milestone achievement over time.

  Measured by the percent of individuals who have achieved developmental milestones between 1 and 4 times per year.

  5 years

• Caregiver report of symptom burden and development history over time.

  Measured by the percent of individuals who report symptoms and their intervention requirements between 1 and 4 times per year.

  5 years

• Caregiver report of composition and frequency of co-morbidities over time.

  Measured by the type and number of non-Rett medical conditions between 1 and 4 times per year.

  5 years

• Caregiver report of the composition and frequency of medication and over-the-counter treatments over time.

  Measured by the percent of individuals receiving these care strategies by symptom between 1 and 4 times per year.

  5 years

• Caregiver report of the composition and frequency of physician specialty utilization and care received at Rett Clinics over time.

  Measured by the type and number of physician specialties used to manage symptoms and the number of individuals who receive care at a Rett clinic between 1 and 2 times per year.

  5 years

• Caregiver report of the composition of the barriers to clinical trial participation over time.

  Measured by the type and number of reasons given for individuals not able or willing to participate in clinical trials between 1 and 2 times per year.

  5 years

Secondary Outcomes (4)

• Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time.

  5 years

• Caregiver report of the frequencies of the level of effectiveness, degree of side effect severity, and other symptom impacts of medications and over-the-counter treatments over time.

  5 years

• Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time.

  5 years

• Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time.

  5 years

Other Outcomes (2)

• Number of research studies conducted through the registry for the purpose of collecting new data over time.

  5 years

• Number of research studies conducted with existing datasets for the purpose of mining registry data over time.

  5 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals of all ages diagnosed with Rett Syndrome and/or have a mutation in MECP2. MECP2 Duplication syndrome individuals are not included and will be directed to the MECP2 Duplication registries.

You may qualify if:

• Parent/caregiver must be willing and able to provide written informed consent electronically prior to entering data into the registry.
• Rett individuals of any age, living or deceased, must have a diagnosis of Rett syndrome and/or have a mutation in MECP2.

You may not qualify if:

• Individuals who have a genetic mutation that is inconsistent with Rett syndrome or who have a different disorder.
• Individuals with MECP2 Duplication Syndrome

Sponsors & Collaborators

• Rett Syndrome Research Trust: lead
• Baylor College of Medicine: collaborator
• Vanderbilt University Medical Center: collaborator
• Rush University: collaborator
• Children's Hospital of Philadelphia: collaborator
• Boston Children's Hospital: collaborator
• RTI International: collaborator

Study Sites (1)

Rett Syndrome Research Trust

Trumbull, Connecticut, 06611, United States

RECRUITING

MeSH Terms

Conditions

Rett Syndrome

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System

Study Officials

• Jana von Hehn, PhD

  Rett Syndrome Research Trust

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jana von Hehn, PhD

CONTACT

203-445-0041; support@rettglobalregistry.org

Jennifer Reynolds

CONTACT

support@rettglobalregistry.org

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: CROSS SECTIONAL
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 26, 2021
• First Posted: May 25, 2021
• Study Start: January 31, 2022
• Primary Completion (Estimated): June 30, 2031
• Study Completion (Estimated): June 30, 2031
• Last Updated: February 17, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: ICF
• Time Frame: Data will be available upon achieving a threshold enrollment of 500 participants.
• Access Criteria: Qualified Investigators interested in advancing Rett Syndrome research or therapeutic development.

Locations

US (1)