Studies
Below are 5p- syndrome studies reviewed by Cri du Chat Research Foundation. We encourage families to join as many studies as possible!
If you have general questions about studies, please contact info@criduchatresearch.org
Past studies can be found here:
Citizen Health Digital Natural History Study
Now Enrolling!
Funding: Citizen
Inclusion Criteria: A diagnosis of 5p- syndrome
How to sign up: Visit https://www.citizen.health/partners/cri-du-chat-research-foundation
Simons Searchlight Registry for 5p- Syndrome
Now Enrolling!
Funding: Simons Searchlight
Inclusion Criteria: A diagnosis of 5p- syndrome
How to Sign up: Visit https://research.simonssearchlight.org/account/create
More info: https://cdn.simonssearchlight.org/wp-content/uploads/2024/10/24074203/24Q3-5p-deletion.pdf
COMBINEDBrain Biorepository Roadshow- 2025
Now Enrolling!
Institution: COMBINEDBrain
Inclusion Criteria: All those diagnosed with 5p- syndrome, siblings and biological sex matched parent
What does this do?
COMBINEDBrain will be collecting urine and blood samples (processed for plasma and a finger stick) to be stored in the COMBINEDBrain Biorepository. These sample will be used for select biomarker projects as well as shared with interested and qualified researchers. Biomarkers are used to test the efficacy of treatments like a gene therapies for our condition by objectively measuring levels in blood, urine etc. This is part of the work CDCRF is doing to prepare our patient community for clinical trials. Find our path to a cure here to learn more (insert image link not full image)
Where? Dates and locations for 2025 include the following conferences: (insert roadshow graph here)
How to sign up: email Megan Leston at info@criduchatresearch.org with the following information for each person from whom samples will be drawn:
· Place and date where you’d like to have samples taken
· Name of caregiver giving consent (for individual with 5p- or non-adult siblings)
· Email of person giving consent
For, 5p- Families who are planning for an upcoming scoliosis repair surgery…
Please consider donating cerebral spinal fluid (CSF). A small amount of CSF will be collected during the surgery. The cerebral spinal fluid will be used as a research tool to develop biomarkers for 5p- syndrome. A critical step for clinical trial design for testing therapeutics for in-human use.
Please contact CDCRF at least 3 months prior to the procedure to allow us time to arrange this. Contact CDCRF via info@criduchatresearch.org.