Clinical trial NCT04900493: The Rett Syndrome Global Registry
Official title: The Rett Syndrome Global Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rett Syndrome
Keywords: MECP2
Registry
RSRT
Lead sponsor: Rett Syndrome Research Trust
Sponsor class: OTHER
Collaborators: name: Baylor College of Medicine
name: Vanderbilt University Medical Center
name: Children's Hospital of Philadelphia
name: Rush University
name: Boston Children's Hospital
name: RTI International
First posted: 2021-05-25
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
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.

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Frequency of genetic mutation types and clinical diagnoses.
timeFrame: 1 year
measure: Caregiver report of developmental milestone achievement over time.
timeFrame: 5 years
measure: Caregiver report of symptom burden and development history over time.
timeFrame: 5 years
measure: Caregiver report of composition and frequency of co-morbidities over time.
timeFrame: 5 years
measure: Caregiver report of the composition and frequency of medication and over-the-counter treatments over time.
timeFrame: 5 years
measure: Caregiver report of the composition and frequency of physician specialty utilization and care received at Rett Clinics over time.
timeFrame: 5 years
measure: Caregiver report of the composition of the barriers to clinical trial participation over time.
timeFrame: 5 years
Secondary outcomes:
measure: Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time.
timeFrame: 5 years
measure: 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.
timeFrame: 5 years
measure: Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time.
timeFrame: 5 years
measure: Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time.
timeFrame: 5 years
Other outcomes:
measure: Number of research studies conducted through the registry for the purpose of collecting new data over time.
timeFrame: 5 years
measure: Number of research studies conducted with existing datasets for the purpose of mining registry data over time.
timeFrame: 5 years
Locations:
city: Trumbull
country: United States
facility: Rett Syndrome Research Trust
state: Connecticut
Study officials:
affiliation: Rett Syndrome Research Trust
name: Jana von Hehn, PhD
role: PRINCIPAL_INVESTIGATOR
References: