The Rett Syndrome Global Registry

Rett Syndrome Clinical Trial

Official title:

The Rett Syndrome Global Registry

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04900493
• Other study ID #: Rett-Registry
• Status: Recruiting
• Start date: January 31, 2022
• Est. completion date: June 30, 2031

Study information

• Verified date: November 2023
• Source: Rett Syndrome Research Trust
• Contact: Jana von Hehn, PhD
• Phone: 203-445-0041
• Email: support[@]rettglobalregistry.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: June 30, 2031
• Est. primary completion date: June 30, 2031
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Rett Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Rett Syndrome Research Trust	Trumbull	Connecticut

Sponsors (7)

Lead Sponsor	Collaborator
Rett Syndrome Research Trust	Baylor College of Medicine, Boston Children's Hospital, Children's Hospital of Philadelphia, RTI International, Rush University, Vanderbilt University Medical Center

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	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
Other	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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	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
Secondary	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
Secondary	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
Secondary	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