Chromosome 9 P Minus Syndrome

Recruiting

• Conditions: Chromosome 9P Deletion Syndrome; 9P Monosomy; Alfi Syndrome; 9P Partial Monosomy Syndrome; 9p Minus Syndrome

• Registration Number: NCT04586400
• Lead Sponsor: Washington University School of Medicine

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-06-27
• Study First Submitted: 2020-10-06
• Study First Submitted QC: 2020-10-06
• Study First Posted: 2020-10-14
• Status Verified: 2024-08
• Last Update Submitted: 2024-08-02
• Last Update Posted: 2024-08-05
• Primary Completion: 2026-06
• Study Completion: 2026-06

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genotypic and Phenotypic Correlation	As enrollment increases the team hopes to have preliminary results by 2022	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.

Trial Locations

Locations (1)

Washington University School of Medicine; 🇺🇸 Saint Louis, Missouri, United States