Chromosome 9 P Minus Syndrome

Recruiting now

Conditions studied: Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome, 9P Monosomy, 9P Partial Monosomy Syndrome

In brief

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.

Key facts

Study ID

NCT04586400

Run by

Washington University School of Medicine

People needed

200

Starts

2017-06-27

Expected to finish

2026-06-01

Last updated by the study team

2024-08-05

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• No exclusion criteria for either affected individuals or their parents or siblings.

Where it is running

• Washington University School of Medicine — St Louis, Missouri, United States (enrolling)

Full record on ClinicalTrials.gov

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