RECRUITING

Chromosome 9 P Minus Syndrome

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2017-06-27
Study Completion:2026-06
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04586400

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Having 9P minus syndrome/ deletions on the 9th chromosome
  2. * Parents and siblings of affected individuals may also be included to determine contribution of genetic background to phenotypic characteristics
  1. * No exclusion criteria for either affected individuals or their parents or siblings.

Contacts and Locations

Study Contact

F. S. Cole, M.D.
CONTACT
314-454-6183
fcole@wustl.edu
Sophia Couteranis
CONTACT
3142861547
9pminus@wustl.edu

Principal Investigator

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

Study Locations (Sites)

Washington University School of Medicine
Saint Louis, Missouri, 63110
United States

Collaborators and Investigators

Sponsor: Washington University School of Medicine

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2017-06-27
Study Completion Date2026-06

Study Record Updates

Study Start Date2017-06-27
Study Completion Date2026-06

Terms related to this study

Additional Relevant MeSH Terms

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