Chromosome 9 P Minus Syndrome
Part of paid clinical trials in St Louis, Missouri.
- Sponsor
- Washington University School of Medicine
- Study ID
- NCT04586400
- Status
- Recruiting
Conditions
- 9P Monosomy
- 9P Partial Monosomy Syndrome
- 9p Minus Syndrome
- Alfi Syndrome
- Chromosome 9P Deletion Syndrome
Eligibility Criteria
- Sex
- ALL
- Age
- N/A - N/A
- Healthy Volunteers
- Accepted
Study Details
Patients with deletion of chromosome 9 P are rare (\~200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion of chromosome 9 P with specific phenotypic characteristics of each patient. Enrolled participants will be asked to complete a detailed questionnaire, complete a medical release form, and provide a biospecimen sample.
Key Dates
- Start date
- Jun 27, 2017
- Status verified
- Aug 2024
- Primary completion
- Jun 30, 2026
- Completion
- Jun 30, 2026
Study Design
- Enrollment
- 200 participants (estimated)
Primary Outcome Measure
Genotypic and Phenotypic Correlation [ Time Frame: As enrollment increases the team hopes to have preliminary results by 2022 ]
Central Contacts
- F. S. Cole, M.D.314-454-6183
- Sophia Couteranis3142861547
Locations (1)
| Facility | City | State | ZIP | Site coordinators |
|---|---|---|---|---|
| Washington University School of Medicine | St Louis | Missouri | 63110 | F. S. Cole, M.D. (PRINCIPAL_INVESTIGATOR) |