9p Minus Syndrome Clinical Trial
Official title:
Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
| NCT number | NCT04586400 |
| Other study ID # | 201706062 |
| Secondary ID | |
| Status | Recruiting |
| Phase | |
| First received | |
| Last updated | |
| Start date | June 27, 2017 |
| Est. completion date | June 2026 |
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.
| Status | Recruiting |
| Enrollment | 200 |
| Est. completion date | June 2026 |
| Est. primary completion date | June 2026 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | All |
| Age group | N/A and older |
| Eligibility | 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. |
| Country | Name | City | State |
|---|---|---|---|
| United States | Washington University School of Medicine | Saint Louis | Missouri |
| Lead Sponsor | Collaborator |
|---|---|
| Washington University School of Medicine | Dickson, Patricia I., M.D., Milbrandt, Jeffrey, MD, PhD, Mitra, Rob, PhD, Turner, Tychele, PhD |
United States,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | Genotypic and Phenotypic Correlation | By use of demographic and genetic material we hope to gain a better understanding between the deletion on the short arm of the 9th chromosome and the features presented. | As enrollment increases the team hopes to have preliminary results by 2022 |