MedTrace Logo

Chromosome 9 P Minus Syndrome

NCT04586400 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2024-08-05

No results posted yet for this study

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.

Conditions

  • Chromosome 9P Deletion Syndrome
  • 9p Minus Syndrome
  • Alfi Syndrome
  • 9P Monosomy
  • 9P Partial Monosomy Syndrome

Sponsors & Collaborators

  • Dickson, Patricia I., M.D.

    collaborator INDIV

  • Milbrandt, Jeffrey, MD, PhD

    collaborator UNKNOWN

  • Mitra, Rob, PhD

    collaborator UNKNOWN

  • Turner, Tychele, PhD

    collaborator UNKNOWN

  • Washington University School of Medicine

    lead OTHER

Principal Investigators

  • F. S Cole, M.D. · Washington University School of Medicine

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-06-27
Primary Completion
2026-06-30
Completion
2026-06-30

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04586400 on ClinicalTrials.gov