Natural History of Rett Syndrome & Related Disorders

Completed

Conditions studied: Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome

In brief

The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the range of clinical involvement and to correlate genotype-phenotype over a broad spectrum of phenotypes. While much has been learned about RTT, improvements are required in understanding the role of factors such as X chromosome inactivation, genetic background, and others including the environment, on the great variability observed even between individuals with the same MECP2 mutation. These data will be essential to the development and conduct of clinical trials that are anticipated from ongoing studies in animal models for RTT. This study will not include clinical trials, but should set the stage for such trials and other translational research projects (e.g., development of biomarkers).

Key facts

Study ID

NCT02738281

Run by

University of Alabama at Birmingham

People needed

1044

Starts

2015-11-01

Expected to finish

2021-07-31

Last updated by the study team

2021-08-05

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals of both genders and of all ages, with RTT, MECP2 Dup, and, RTT-related disorders including those with mutations or deletions in CDKL5 and FOXG1 genes, or those with RTT (atypical or typical) who are mutation negative.

You may not qualify if…

• Individuals who do not meet the above criteria will be excluded.

Where it is running

• University of Alabama at Birmingham — Birmingham, Alabama, United States
• UCSF Oakland Benioff Children's Hospital — Oakland, California, United States
• University of California San Diego — San Diego, California, United States
• University of Colorado Denver — Denver, Colorado, United States
• Rush University Medical Center — Chicago, Illinois, United States
• Children's Hospital Boston — Boston, Massachusetts, United States
• Gillette Children's Specialty Healthcare — Saint Paul, Minnesota, United States
• Washington University School of Medicine and St. Louis Children's Hospital — St Louis, Missouri, United States
• Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States
• Cleveland Clinic — Cleveland, Ohio, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Greenwood Genetic Center — Greenwood, South Carolina, United States
• Vanderbilt University — Nashville, Tennessee, United States
• Baylor College of Medicine — Houston, Texas, United States

Full record on ClinicalTrials.gov

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