Rett Syndrome Clinical Trial
Official title:
Biobanking of Rett Syndrome and Related Disorders Protocol
Verified date | August 2021 |
Source | University of Alabama at Birmingham |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 752 |
Est. completion date | July 31, 2021 |
Est. primary completion date | July 31, 2021 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | Inclusion Criteria: - 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. Exclusion Criteria: - Individuals who do not meet the above criteria will be excluded. |
Country | Name | City | State |
---|---|---|---|
United States | University of Alabama at Birmingham | Birmingham | Alabama |
United States | Children's Hospital Boston | Boston | Massachusetts |
United States | Rush University Medical Center | Chicago | Illinois |
United States | University of Colorado Denver | Denver | Colorado |
United States | Greenwood Genetic Center | Greenwood | South Carolina |
United States | Baylor College of Medicine | Houston | Texas |
United States | Gillette Children's Specialty Healthcare | Minneapolis | Minnesota |
United States | Vanderbilt University | Nashville | Tennessee |
United States | UCSF Benioff Children's Hospital Oakland | Oakland | California |
United States | Children's Hospital of Philadelphia | Philadelphia | Pennsylvania |
United States | Washington University School of Medicine and St. Louis Children's Hospital | Saint Louis | Missouri |
United States | University of California San Diego | San Diego | California |
Lead Sponsor | Collaborator |
---|---|
University of Alabama at Birmingham | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Center for Advancing Translational Science (NCATS), National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Office of Rare Diseases (ORD) |
United States,
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* Note: There are 62 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | X-chromosome inactivation in Rett syndrome (RTT) | Characterize X-chromosome inactivation in RTT and correlate with clinical severity. | 5 years | |
Primary | Bdnf polymorphisms in RTT | Characterize Bdnf polymorphisms in RTT and correlate with clinical severity. | 5 years | |
Primary | Inflammation markers in MECP2 duplication syndrome | Evaluate inflammation markers in MECP2 duplication syndrome and correlate with disease severity. | 5 years | |
Primary | Biobanking of blood for Rett syndrome (RTT), MECP2 duplication syndrome, FOXG1, CDKL5, and MECP2 mutations not producing RTT | Blood will be collected and stored from participants with RTT, MECP2 duplication, FOXG1, CDKL5, and MECP2 mutations without RTT to analyze factors noted in Outcomes 1-3 and in secondary outcome 5 to correlate with disease severity. | 5 years | |
Secondary | Breakpoints and gene content of MECP2 and FOXG1 duplications | Characterize breakpoints and gene content of MECP2 and FOXG1 duplications and correlate with disease severity | 5 years |
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