Actively Recruiting
Chromosome 9 P Minus Syndrome
Led by Washington University School of Medicine · Updated on 2024-08-05
200
Participants Needed
1
Research Sites
465 weeks
Total Duration
On this page
Sponsors
W
Washington University School of Medicine
Lead Sponsor
D
Dickson, Patricia I., M.D.
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Chromosome 9 P Minus Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Having 9P minus syndrome or deletions on the 9th chromosome
- Parents and siblings of affected individuals may also be included to determine contribution of genetic background to phenotypic characteristics
You will not qualify if you...
- No exclusion criteria for either affected individuals or their parents or siblings.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Washington University School of Medicine
St Louis, Missouri, United States, 63110
Actively Recruiting
Research Team
F
F. S. Cole, M.D.
CONTACT
S
Sophia Couteranis
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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