The Rett Syndrome Global Registry

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.

Study Overview

• Status: Recruiting
• Conditions: Rett Syndrome

Detailed Description

The Rett Syndrome Global Registry is a fully remote, global, caregiver-reported registry intended to meet the needs of caregivers, clinicians and researchers, and therapeutic developers with the goal to increase our understanding of this rare disorder, support better outcomes for those with Rett syndrome, and facilitate improved therapeutic development. The Rett Global Registry allows families to provide data about their experience with Rett syndrome to improve their loved one's care while contributing to research. Participants may opt in to track and graph symptoms and care strategies over time to support day-to-day care. Participants may also access aggregate data to see similarities and differences in care strategies and consolidate their personal information in a central location. Participants may opt-in to complete medical record consolidation and summary that is centrally accessible, able to be shared with care providers, and utilized for research.

The registry database is designed and maintained to clinical trial standards and supports research and therapeutic development while meeting or exceeding federal privacy and confidentiality requirements. These datasets including caregiver-reported Rett syndrome progression, quality of life, at home day-to-day data, and consolidated medical records from office visits or hospital stays, provides unique and previously unused sources of information important for improving our understanding of Rett syndrome, allow additional avenues of research, and support therapeutic development. Specifically, the registry is intended to assist with clinical development planning, trial design, trial endpoints, and regulatory filings.

• Study Type: Observational
• Enrollment (Estimated): 5000

Contacts and Locations

• Study Contact: Name: Jana von Hehn, PhD; Phone Number: 203-445-0041; Email: support@rettglobalregistry.org
• Study Contact Backup: Name: Jennifer Reynolds; Email: support@rettglobalregistry.org

Study Locations

• United States
  • Connecticut
    • Trumbull, Connecticut, United States, 06611
      • Recruiting
      • Rett Syndrome Research Trust
      • Contact: Jana von Hehn, PhD; Email: support@rettglobalregistry.org
      • Contact: Jenny Reynolds; Email: support@rettglobalregistry.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time.	Measured by percent of patients perceiving these care strategies as successful between 1 and 2 times per year.	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.	Measured by percent of patients receiving medications or over-the-counter treatments and the percent perceiving these care strategies as successful, with side effects, and impact on other symptoms between 1 and 4 times per year.	5 years
Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time.	Measured by the number of patients requiring emergency care and hospital admissions at least 1 time per year.	5 years
Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time.	Measured by the number of individuals using these features between 1 and 4 times per year.	5 years

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of research studies conducted through the registry for the purpose of collecting new data over time.	Measured by the number of studies initiated at least 1 time per year.	5 years
Number of research studies conducted with existing datasets for the purpose of mining registry data over time.	Measured by the number of studies initiated at least 1 time per year.	5 years

Collaborators and Investigators

• Sponsor: Rett Syndrome Research Trust
• Collaborators: Baylor College of Medicine; Children's Hospital of Philadelphia; Boston Children's Hospital; Vanderbilt University Medical Center; RTI International; Rush University
• Investigators: Principal Investigator: Jana von Hehn, PhD, Rett Syndrome Research Trust

Study record dates

Study Major Dates

• Study Start (Actual): January 31, 2022
• Primary Completion (Estimated): June 30, 2031
• Study Completion (Estimated): June 30, 2031

Study Registration Dates

• First Submitted: April 26, 2021
• First Submitted That Met QC Criteria: May 19, 2021
• First Posted (Actual): May 25, 2021

Study Record Updates

• Last Update Posted (Estimated): November 17, 2023
• Last Update Submitted That Met QC Criteria: November 14, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Registry; MECP2; RSRT
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Syndrome; Rett Syndrome
• Other Study ID Numbers: Rett-Registry

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: Qualified Investigators may make data requests to the Rett Syndrome Global Registry Oversight Committee
• IPD Sharing Time Frame: Data will be available upon achieving a threshold enrollment of 500 participants.
• IPD Sharing Access Criteria: Qualified Investigators interested in advancing Rett Syndrome research or therapeutic development.
• IPD Sharing Supporting Information Type: ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No