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Rett Syndrome Registry (RSR)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05432349
Recruitment Status : Recruiting
First Posted : June 27, 2022
Last Update Posted : July 14, 2022
Sponsor:
Collaborators:
Boston Children's Hospital
Children's Health UTSW
Children's Hospital Colorado
Children's Hospital of Philadelphia
Gillette Children's Specialty Healthcare
Greenwood Genetic Center
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Montefiore Medical Center
Rush University
St. Louis Children's Hospital
Baylor College of Medicine
University of Alabama at Birmingham
UCSF Benioff Children's Hospital Oakland
Vanderbilt University Medical Center
Hive Networks
Information provided by (Responsible Party):
International Rett Syndrome Foundation

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.

Condition or disease
Rett Syndrome Rett Syndrome, Atypical Genetic Disease Genetic Diseases, X-Linked Intellectual Disability Neurobehavioral Manifestations Neurologic Manifestations Neurologic Disorder Neurodevelopmental Disorders Nervous System Diseases

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 3000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 5 Years
Official Title: Rett Syndrome Real World Data Observational Registry
Estimated Study Start Date : July 2022
Estimated Primary Completion Date : July 2027
Estimated Study Completion Date : July 2028





Primary Outcome Measures :
  1. Natural History [ Time Frame: 5 years ]
    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).



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   0 Years to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05432349


Contacts
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Contact: Dominique C. Pichard, MD 513-494-8159 research@rettsyndrome.org

Locations
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United States, Alabama
University of Alabama Not yet recruiting
Birmingham, Alabama, United States, 35233
United States, California
UCSF Benioff Children's Hospital Not yet recruiting
Oakland, California, United States, 94609
United States, Colorado
Children's Hospital Colorado Not yet recruiting
Denver, Colorado, United States, 80045
United States, Illinois
Rush University Medical Center Not yet recruiting
Chicago, Illinois, United States, 60612
United States, Maryland
Kennedy Krieger Institute Not yet recruiting
Baltimore, Maryland, United States, 21205
United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
United States, Minnesota
Gillette Children's Specialty Healthcare Not yet recruiting
Saint Paul, Minnesota, United States, 55101
United States, Missouri
Washington University in St. Louis Not yet recruiting
Saint Louis, Missouri, United States, 63110
United States, New York
The Children's Hospital at Montefiore Not yet recruiting
Bronx, New York, United States, 10467
United States, Pennsylvania
Children's Hospital of Philadelphia Not yet recruiting
Philadelphia, Pennsylvania, United States, 19104
United States, South Carolina
Greenwood Genetic Center Not yet recruiting
Greenwood, South Carolina, United States, 29646
United States, Tennessee
Vanderbilt Kennedy Center Not yet recruiting
Nashville, Tennessee, United States, 37232
United States, Texas
Children's Health Not yet recruiting
Dallas, Texas, United States, 75207
Texas Children's Hospital Not yet recruiting
Houston, Texas, United States, 77030
Sponsors and Collaborators
International Rett Syndrome Foundation
Boston Children's Hospital
Children's Health UTSW
Children's Hospital Colorado
Children's Hospital of Philadelphia
Gillette Children's Specialty Healthcare
Greenwood Genetic Center
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Montefiore Medical Center
Rush University
St. Louis Children's Hospital
Baylor College of Medicine
University of Alabama at Birmingham
UCSF Benioff Children's Hospital Oakland
Vanderbilt University Medical Center
Hive Networks
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Responsible Party: International Rett Syndrome Foundation
ClinicalTrials.gov Identifier: NCT05432349    
Other Study ID Numbers: Pro00060206
First Posted: June 27, 2022    Key Record Dates
Last Update Posted: July 14, 2022
Last Verified: July 2022

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by International Rett Syndrome Foundation:
Rett syndrome
MECP2
Neurodevelopmental disorder
Registry
Natural History Study
Additional relevant MeSH terms:
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Nervous System Diseases
Intellectual Disability
Rett Syndrome
Neurologic Manifestations
Neurobehavioral Manifestations
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Disease
Syndrome
Neurodevelopmental Disorders
Pathologic Processes
Mental Disorders
Mental Retardation, X-Linked
Heredodegenerative Disorders, Nervous System