NCT04586400 · Washington University School of Medicine
Chromosome 9 P Minus Syndrome
What this study is about
Patients with deletion of chromosome 9 P are rare (\~200 in the medical literature) and have a diverse set of phenotypic characteristics.
View original scientific 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.
Primary outcome measures
Genotypic and Phenotypic Correlation
Time frame: As enrollment increases the team hopes to have preliminary results by 2022
By use of demographic and genetic material we hope to gain a better understanding between the deletion on the short arm of the 9th chromosome and the features presented.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- St Louis, Missouri
Collaborators
Dickson, Patricia I., M.D., Milbrandt, Jeffrey, MD, PhD, Mitra, Rob, PhD, Turner, Tychele, PhD
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Aug 5, 2024 · Source of record for eligibility and locations