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Chromosome 9 P Minus Syndrome

Sponsor
Washington University School of Medicine (Other)
Overall Status
Recruiting
CT.gov ID
NCT04586400
Collaborator
Dr. Patricia Dickson, MD (Other), Jeffrey Milbrandt, MD, PhD (Other), Rob Mitra, PhD (Other), Tychele Turner, PhD (Other)
200
Enrollment
1
Location
71.1
Anticipated Duration (Months)
2.8
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    200 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Official Title:
    Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
    Actual Study Start Date :
    Jun 27, 2017
    Anticipated Primary Completion Date :
    Jun 1, 2023
    Anticipated Study Completion Date :
    Jun 1, 2023

    Outcome Measures

    Primary Outcome Measures

    1. 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.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Washington University School of Medicine Saint Louis Missouri United States 63110

    Sponsors and Collaborators

    • Washington University School of Medicine
    • Dr. Patricia Dickson, MD
    • Jeffrey Milbrandt, MD, PhD
    • Rob Mitra, PhD
    • Tychele Turner, PhD

    Investigators

    • Principal Investigator: F. S Cole, M.D., Washington University School of Medicine

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Washington University School of Medicine
    ClinicalTrials.gov Identifier:
    NCT04586400
    Other Study ID Numbers:
    • 201706062
    First Posted:
    Oct 14, 2020
    Last Update Posted:
    Dec 15, 2021
    Last Verified:
    Nov 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Syndrome
    Monosomy
    Chromosome Deletion

    Study Results

    No Results Posted as of Dec 15, 2021