Understanding Chromosome 9 P Minus Syndrome
Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
This study is trying to understand the genetic details of Chromosome 9P Deletion Syndrome by looking at patients and their families to see how the missing part of the chromosome affects their health and traits.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Washington University School of Medicine Academic / other |
| Locations | 1 site (St Louis, Missouri) |
| Trial ID | NCT04586400 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the genetic characteristics of patients with Chromosome 9P Deletion Syndrome, a rare condition affecting approximately 200 individuals. By utilizing advanced genome sequencing techniques, researchers will identify the specific location and size of the chromosome deletion and analyze how these genetic factors correlate with the diverse phenotypic traits observed in affected patients. Participants will complete a detailed questionnaire, provide a medical release form, and submit a biospecimen sample for analysis. The study also includes parents and siblings of affected individuals to explore the genetic contributions to the condition.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals diagnosed with Chromosome 9P Deletion Syndrome and their family members.
Not a fit: Patients without a diagnosis of Chromosome 9P Deletion Syndrome or those not related to affected individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Chromosome 9P Deletion Syndrome, leading to improved diagnosis and management strategies for affected patients.
How similar studies have performed: While studies on rare genetic syndromes are limited, similar approaches using genome sequencing have shown promise in understanding genetic conditions, suggesting potential for success in this study.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Having 9P minus syndrome/ deletions on the 9th chromosome * Parents and siblings of affected individuals may also be included to determine contribution of genetic background to phenotypic characteristics Exclusion Criteria: * No exclusion criteria for either affected individuals or their parents or siblings.
Where this trial is running
St Louis, Missouri
- Washington University School of Medicine — St Louis, Missouri, United States (Recruiting)
Study contacts
- Principal investigator: F. S Cole, M.D. — Washington University School of Medicine
- Study coordinator: F. S. Cole, M.D.
- Email: fcole@wustl.edu
- Phone: 314-454-6183
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.