Chromosome 9P Deletion SyndromeNCT04586400
Chromosome 9 P Minus Syndrome
An observational study of Chromosome 9P Deletion Syndrome and 9p Minus Syndrome, run by Washington University School of Medicine at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome
- How many people
- 200 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Jun 2017to Jun 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The Principal Investigator and members of the study team in collaboration with the 9 P Minus Network (http://9pminus.org/), Unique (https://www.rarechromo.org/), and other members of the 9 P Minus community will identify candidate participants with 9 P minus syndrome.
Who may be able to join
- 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
Who cannot join
- No exclusion criteria for either affected individuals or their parents or siblings.
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
Washington University School of Medicine
St Louis, Missouri, 63110
Sophia Couteranis, 314-286-1547, csophia@wustl.edu
F. S. Cole, M.D.
About this study
Official title: Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
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.
- Conditions
- Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome, 9P Monosomy, 9P Partial Monosomy Syndrome
- Medical subject headings
- Chromosome 9p Deletion Syndrome, Chromosome 9, partial monosomy 9p
What is being measured
The primary outcome is the main question the study is designed to answer.
Genotypic and Phenotypic Correlation
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.
Measured: As enrollment increases the team hopes to have preliminary results by 2022
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2020
- Study start27 Jun 2017
- Primary completionJun 2026 (estimated)
- Study completionJun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Chromosome 9P Deletion SyndromeStudies of the same condition, open and under way.
- More trials run by Washington University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Washington University School of Medicine
- Sponsor type
- University, hospital or other
- Collaborators
- Dickson, Patricia I., M.D., Milbrandt, Jeffrey, MD, PhD, Mitra, Rob, PhD, Turner, Tychele, PhD
- Responsible party
- Sponsor
- Investigators
- F. S Cole, M.D., Principal investigator, Washington University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04586400
- Sponsor's protocol ID
- 201706062
- Status last verified
- Aug 2024
- First submitted
- 6 Oct 2020
- Last updated
- 5 Aug 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The study was created to have a better understanding of 9P minus syndrome. The team will educate participants regarding their genetic testing but this is not intended to influence medical decisions.
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome
- ClinicalTrials.gov ID
- NCT04586400
- Acronym / sponsor ID
- 201706062
- Conditions
- Chromosome 9P Deletion Syndrome, 9p Minus Syndrome, Alfi Syndrome, 9P Monosomy, 9P Partial Monosomy Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- Washington University School of MedicineUniversity, hospital or other
- Collaborators
- Dickson, Patricia I., M.D., Milbrandt, Jeffrey, MD, PhD, Mitra, Rob, PhD, Turner, Tychele, PhD
- Study start
- 27 Jun 2017 (actual)
- Primary completion
- Jun 2026 (estimated)
- Study completion
- Jun 2026 (estimated)
- First posted
- 14 Oct 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The Principal Investigator and members of the study team in collaboration with the 9 P Minus Network (http://9pminus.org/), Unique (https://www.rarechromo.org/), and other members of the 9 P Minus community will identify candidate participants with 9 P minus syndrome.
Key inclusion criteria (2 listed)
- 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
Key exclusion criteria (1 listed)
- No exclusion criteria for either affected individuals or their parents or siblings.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Aug 2024.
- Individual participant dataSharing planned: No. The study was created to have a better understanding of 9P minus syndrome. The team will educate participants regarding their genetic testing but this is not intended to influence medical decisions.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
F. S Cole, M.D. principal investigator
Washington University School of Medicine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Chromosome 9P Deletion Syndrome and 9p Minus Syndrome, run by Washington University School of Medicine at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 5 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact F. S. Cole, M.D. (314-454-6183, fcole@wustl.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Genotypic and Phenotypic Correlation (time frame: As enrollment increases the team hopes to have preliminary results by 2022). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Aug 2024.