Clinical trial NCT05432349: Rett Syndrome Registry
Official title: Rett Syndrome Real World Data Observational Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Rett Syndrome
Rett Syndrome, Atypical
Genetic Disease
Genetic Diseases, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Neurologic Disorder
Neurodevelopmental Disorders
Nervous System Diseases
Keywords: Rett syndrome
MECP2
Neurodevelopmental disorder
Registry
Natural History Study
Lead sponsor: International Rett Syndrome Foundation
Sponsor class: OTHER
Collaborators: name: Boston Children's Hospital
name: Children's Health UTSW
name: Children's Hospital Colorado
name: Children's Hospital of Philadelphia
name: Gillette Children's Specialty Healthcare
name: Greenwood Genetic Center
name: Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
name: Montefiore Medical Center
name: Rush University
name: St. Louis Children's Hospital
name: Baylor College of Medicine
name: University of Alabama at Birmingham
name: UCSF Benioff Children's Hospital Oakland
name: Vanderbilt University Medical Center
name: Hive Networks
First posted: 2022-06-27
Enrollment: 3000
Sex: ALL
Minimum age (years): 0
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: The study population is males and females of all ages with a loss of function alteration of the MECP2 gene, most commonly resulting in Rett syndrome.

Brief summary: The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.


Eligibility 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

Primary outcomes:
measure: Natural History
timeFrame: 5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama
state: Alabama
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: Oakland
country: United States
facility: UCSF Benioff Children's Hospital
state: California
city: Denver
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Chicago
country: United States
facility: Rush University Medical Center
state: Illinois
city: Baltimore
country: United States
facility: Kennedy Krieger Institute
state: Maryland
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Saint Paul
country: United States
facility: Gillette Children's Specialty Healthcare
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University in St. Louis
state: Missouri
city: Bronx
country: United States
facility: The Children's Hospital at Montefiore
state: New York
city: Chapel Hill
country: United States
facility: The University of North Carolina at Chapel Hill
state: North Carolina
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Greenwood
country: United States
facility: Greenwood Genetic Center
state: South Carolina
city: Nashville
country: United States
facility: Vanderbilt Kennedy Center
state: Tennessee
city: Dallas
country: United States
facility: Children's Health
state: Texas
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
Study officials:
References: