Biobanking of Rett Syndrome and Related Disorders
Completed
Conditions studied: Rett Syndrome, MECP2 Duplication, CDKL5, FOXG1 Disorders
In brief
The overarching purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), RTT-related disorders including CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT. Although all these disorders are the result of specific genetic changes, there remains broad clinical variation that is not entirely accounted for by known biological factors. Additionally, clinical investigators currently do not have any biomarkers of disease status, clinical severity, or responsiveness to therapeutic intervention. To address these issues, biological materials (DNA, RNA, plasma, cell lines) will be collected from affected individuals and in some cases from unaffected family members, initial evaluation performed to identify additional biological factors contributing to disease severity, and these materials will be stored for future characterization.
Key facts
- Study ID
- NCT02705677
- Run by
- University of Alabama at Birmingham
- People needed
- 752
- Starts
- 2017-09-01
- 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. Additionally, unaffected family members of those people who meet the disease specific criteria stated will eligible.
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 Benioff Children's Hospital Oakland — 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 — Minneapolis, Minnesota, United States
- Washington University School of Medicine and St. Louis Children's Hospital — St Louis, Missouri, 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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