Bohring-Opitz Syndrome and ASXL Registry
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications |
| Therapuetic Areas: | Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 10/27/2018 |
| Start Date: | September 20, 2017 |
| End Date: | September 2037 |
| Contact: | Loren Pena, MD |
| Email: | ASXLRegistry@cchmc.org |
| Phone: | (513) 636-4760 |
Bohring-Opitz Syndrome and ASXL-Related Phenotypes Registry
A registry focused on the natural history, management and treatment of patients with
Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome
(ASXL3).
Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome(ASXL2) and Bainbridge-Ropers Syndrome
(ASXL3).
Study participants will be asked to complete a series of brief surveys over time about their
medical condition. The researchers will also attain primary medical records.The registry is
run by clinical geneticists at Cincinnati Children's and Boston Children's Hospitals in a
partnership with the Bohring-Opitz Syndrome (BOS) Foundation. The BOS Foundation is a
non-profit organization run by families of patients with BOS that is focused on supporting
research. The data is co-managed by the researchers and the Foundation. Aggregate data from
the Registry will be shared with the participants as well as used for publication. The
Registry is HIPPA compliant and follows all the IRB requirements regarding securing and
managing patient data.
medical condition. The researchers will also attain primary medical records.The registry is
run by clinical geneticists at Cincinnati Children's and Boston Children's Hospitals in a
partnership with the Bohring-Opitz Syndrome (BOS) Foundation. The BOS Foundation is a
non-profit organization run by families of patients with BOS that is focused on supporting
research. The data is co-managed by the researchers and the Foundation. Aggregate data from
the Registry will be shared with the participants as well as used for publication. The
Registry is HIPPA compliant and follows all the IRB requirements regarding securing and
managing patient data.
Inclusion Criteria:
- Clinical or molecular diagnosis of an ASXL related disorder
Exclusion Criteria:
- No clinical or molecular diagnosis of an ASXL related disorder
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