Rett Syndrome Registry (RSR)

Rett Syndrome Real World Data Observational Registry

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.

Study Overview

• Status: Recruiting
• Conditions: Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Genetic Diseases, X-Linked; Intellectual Disability; Neurodevelopmental Disorders; Neurologic Disorder; Rett Syndrome; Genetic Disease; Rett Syndrome, Atypical

• Study Type: Observational
• Enrollment (Anticipated): 3000

Contacts and Locations

• Study Contact: Name: Dominique C. Pichard, MD; Phone Number: 513-874-3020; Email: research@rettsyndrome.org

Study Locations

• United States
  • Alabama
    • Birmingham, Alabama, United States, 35233
      • Recruiting
      • University of Alabama
  • California
    • Los Angeles, California, United States, 90027
      • Not yet recruiting
      • Children's Hospital Los Angeles
    • Oakland, California, United States, 94609
      • Recruiting
      • UCSF Benioff Children's Hospital
  • Colorado
    • Denver, Colorado, United States, 80045
      • Recruiting
      • Children's Hospital Colorado
  • Illinois
    • Chicago, Illinois, United States, 60612
      • Recruiting
      • Rush University Medical Center
  • Maryland
    • Baltimore, Maryland, United States, 21205
      • Recruiting
      • Kennedy Krieger Institute
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Recruiting
      • Boston Children's Hospital
  • Minnesota
    • Saint Paul, Minnesota, United States, 55101
      • Recruiting
      • Gillette Children's Specialty Healthcare
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Recruiting
      • Washington University in St. Louis
  • New York
    • Bronx, New York, United States, 10467
      • Recruiting
      • The Children's Hospital at Montefiore
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27517
      • Not yet recruiting
      • The University of North Carolina at Chapel Hill
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Not yet recruiting
      • Cincinnati Children's Hospital Medical Center
    • Columbus, Ohio, United States, 43205
      • Not yet recruiting
      • Nationwide Children's Hospital
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia
  • South Carolina
    • Greenwood, South Carolina, United States, 29646
      • Recruiting
      • Greenwood Genetic Center
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Recruiting
      • Vanderbilt Kennedy Center
  • Texas
    • Dallas, Texas, United States, 75207
      • Recruiting
      • Children's Health
    • Houston, Texas, United States, 77030
      • Recruiting
      • Texas Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 second to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Natural History	To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).	5 years

Collaborators and Investigators

• Sponsor: International Rett Syndrome Foundation
• Collaborators: Baylor College of Medicine; Children's Hospital of Philadelphia; University of Alabama at Birmingham; Children's Hospital Colorado; Boston Children's Hospital; Montefiore Medical Center; Vanderbilt University Medical Center; St. Louis Children's Hospital; Hugo W. Moser Research Institute at Kennedy Krieger, Inc.; UCSF Benioff Children's Hospital Oakland; Rush University; Gillette Children's Specialty Healthcare; Children's Health UTSW; Greenwood Genetic Center; Hive Networks

Study record dates

Study Major Dates

• Study Start (Actual): August 2, 2022
• Primary Completion (Anticipated): July 1, 2027
• Study Completion (Anticipated): July 1, 2028

Study Registration Dates

• First Submitted: April 5, 2022
• First Submitted That Met QC Criteria: June 20, 2022
• First Posted (Actual): June 27, 2022

Study Record Updates

• Last Update Posted (Estimate): January 11, 2023
• Last Update Submitted That Met QC Criteria: January 9, 2023
• Last Verified: January 1, 2023

More Information

Terms related to this study

• Keywords: Registry; Rett syndrome; Natural History Study; Neurodevelopmental disorder; MECP2
• Additional Relevant MeSH Terms: Mental Disorders; Pathologic Processes; Mental Retardation, X-Linked; Heredodegenerative Disorders, Nervous System; Syndrome; Disease; Nervous System Diseases; Neurobehavioral Manifestations; Rett Syndrome; Intellectual Disability; Neurodevelopmental Disorders; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Neurologic Manifestations
• Other Study ID Numbers: Pro00060206

Drug and device information, study documents

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