Chromosome 9 P Minus Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome, 9P Monosomy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
Overview
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.
Primary outcome measures
- Genotypic and Phenotypic Correlation [Time frame: As enrollment increases the team hopes to have preliminary results by 2022]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Washington University School of Medicine — St Louis
Identifiers
NCT: NCT04586400 · 201706062