Chromosome 9 P Minus Syndrome

Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome

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.

Study Overview

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

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: F. S. Cole, M.D.; Phone Number: 314-454-6183; Email: fcole@wustl.edu
• Study Contact Backup: Name: Sophia Couteranis; Phone Number: 3142861547; Email: 9pminus@wustl.edu

Study Locations

• United States
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Recruiting
      • Washington University School of Medicine
      • Principal Investigator: F. S. Cole, M.D.
      • Contact: Sophia Couteranis; Phone Number: 314-286-1547; Email: csophia@wustl.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The Principal Investigator and members of the study team in collaboration with the 9 P Minus Network (http://9pminus.org/), Unique (https://www.rarechromo.org/), and other members of the 9 P Minus community will identify candidate participants with 9 P minus syndrome.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Washington University School of Medicine
• Collaborators: Dickson, Patricia I., M.D.; Milbrandt, Jeffrey, MD, PhD; Mitra, Rob, PhD; Turner, Tychele, PhD
• Investigators: Principal Investigator: F. S Cole, M.D., Washington University School of Medicine

Study record dates

Study Major Dates

• Study Start (Actual): June 27, 2017
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026

Study Registration Dates

• First Submitted: October 6, 2020
• First Submitted That Met QC Criteria: October 6, 2020
• First Posted (Actual): October 14, 2020

Study Record Updates

• Last Update Posted (Actual): May 25, 2023
• Last Update Submitted That Met QC Criteria: May 23, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Disease; Chromosome Aberrations; Aneuploidy; Syndrome; Monosomy; Chromosome Deletion
• Other Study ID Numbers: 201706062

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: The study was created to have a better understanding of 9P minus syndrome. The team will educate participants regarding their genetic testing but this is not intended to influence medical decisions.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No