Clinical Research Directory

Browse clinical research sites, groups, and studies.

Sites Groups Studies

Back to Studies

RECRUITING

NCT04586400

Chromosome 9 P Minus Syndrome

Sponsor: Washington University School of Medicine

View on ClinicalTrials.gov

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.

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

Key Details

Gender

All

Age Range

Any - Any

Study Type

OBSERVATIONAL

Enrollment

200

Start Date

2017-06-27

Completion Date

2026-06

Last Updated

2024-08-05

Healthy Volunteers

Yes

Conditions

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

Locations (1)

Washington University School of Medicine

St Louis, Missouri, United States