Recruiting

Observational StudyRett Syndrome Registry

Sponsor:

International Rett Syndrome Foundation

Code:

NCT05432349

Conditions

Rett Syndrome

Rett Syndrome, Atypical

Genetic Disease

Genetic Diseases, X-Linked

Intellectual Disability

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Rett Syndrome

Rett Syndrome, Atypical

Genetic Disease

Genetic Diseases, X-Linked

Intellectual Disability

Study ID

NCT05432349

Start date

Aug 2, 2022

Status verified date

Jun, 2026

Completion date

Jul, 2028

Anticipated

Primary completion date

Jul, 2027

Anticipated

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

3000 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

Natural History [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Dominique Pichard

513-874-3020 research@rettsyndrome.org

Locations

University of Alabama

Recruiting

Birmingham, Alabama, United States, 35233

Contacts

Emily Wignall

(205) 638-2551 emily.wignall@childrensal.org

Children's Hospital Los Angeles

Recruiting

Los Angeles, California, United States, 90027

Contacts

Payal Gu

(323) 361-2471 Rettclinic@chla.usc.edu

UCSF Benioff Children's Hospital

Recruiting

Oakland, California, United States, 94598

Contacts

Grace Sobrero

(510) 428-3590 grace.sobrero@ucsf.edu

Rady Children's Hospital - San Diego

Recruiting

San Diego, California, United States, 92123

Contacts

Karen Ditslear

858-966-5819 kditslear@health.ucsd.edu

Children's Hospital Colorado

Recruiting

Denver, Colorado, United States, 80045

Contacts

Tim Benke

(720) 777-4798 rettclinic@childrenscolorado.org

Nicklaus Children's Hospital

Recruiting

Miami, Florida, United States, 33155

Contacts

Paula Schleifer

305-666-6511 rettclinic@nicklaushealth.org

Rush University Medical Center

Recruiting

Chicago, Illinois, United States, 60612

Contacts

Emma Citow

(312) 942-3034 emma_citow@rush.edu

Kennedy Krieger Institute

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Constance Smith-Hicks

(443) 923-2778 geneticsclinic@kennedykrieger.org

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

David Lieberman

(617) 355-2063 rettresearch@childrens.harvard.edu

Gillette Children's Specialty Healthcare

Recruiting

Saint Paul, Minnesota, United States, 55101

Contacts

Art Beisang

(651) 228-6455 phalenpedsclinic@gillettechildrens.com

Washington University in St. Louis

Recruiting

St Louis, Missouri, United States, 63110

Contacts

Robin Ryther

(314) 454-6120 rett@email.wustl.edu

The University of North Carolina at Chapel Hill

Recruiting

Chapel Hill, North Carolina, United States, 27517

Contacts

Yulissa Gonzalez

(984) 974-7337 yulissa_gonzalez@neurology.unc.edu

Cincinnati Children's Hospital Medical Center

Recruiting

Cincinnati, Ohio, United States, 45229

Contacts

Rochelle Witt

(513) 636-4222 rett@cchmc.org

Nationwide Children's Hospital

Recruiting

Columbus, Ohio, United States, 43205

Contacts

Christopher Beatty

(614) 722-4625 rettsyndromeclinicadmin@nationwidechildrens.org

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Eric Marsh

(267) 426-1242 dl-rettsyndrome@chop.edu

Greenwood Genetic Center

Recruiting

Greenwood, South Carolina, United States, 29646

Contacts

Fran Annese

(864) 941-8100 fran@ggc.org

Vanderbilt Kennedy Center

Recruiting

Nashville, Tennessee, United States, 37232

Contacts

Cary Fu

(615) 936-5536 rettclinic@vumc.org

Children's Health

Recruiting

Dallas, Texas, United States, 75207

Contacts

Dallas Armstrong

(214) 456-2768 dallasneurologyclinic@childrens.com

Texas Children's Hospital

Recruiting

Houston, Texas, United States, 77030

Contacts

Bernhard Suter

(832) 822-7388 bbc@texaschildrens.org

More Information

Sponsor

International Rett Syndrome Foundation

Last update posted

Jun 30, 2026

Last verified

Jun, 2026

Keywords

Rett syndrome
MECP2
Neurodevelopmental disorder
Registry
Natural History Study

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by International Rett Syndrome Foundation on 2026-06-30.