Join Cri du Chat Research Foundation Registries
Join Citizen via this link
https://www.citizen.health/partners/cri-du-chat-research-foundation
Join Simons Searchlight via this link
Simons Searchlight Create Account Link
(Insert the NHS graph image explaining Citizen & Simons)
Natural History Studies
What is a Natural History Study?
In order to improve care and develop treatments specific for 5p- syndrome, a better understanding of the disorder is needed. One way is through collection information in natural history studies. A natural history study is a type of research study that examines how a disease naturally progresses over time. This can be accomplished in many different ways including questionnaires and surveys collected over time or reviewing past medical records for trends seen among many patients with the same disorder.
How can I participate?
Cri du chat Research Foundation has partnered with several organizations with the goal to collect natural history information and bio-specimen samples for individuals identified with 5p- syndrome. Participating in research studies is an important method of increasing what we know about 5p- syndrome patients and accelerating development of future treatments and therapies. Below is information on all the natural history studies as well as how they complement each other and work together. You can help us speed research efforts right away by building a readily-available pool of data on 5p- syndrome.
Enroll in the Citizen Health Study
Citizen Health is a 5p- syndrome natural history study that uses medical records to collect meaningful information on how a deletion of genes in 5p- syndrome affects a person’s life and it includes medical record information across multiple hospitals and providers where a participant has been seen.
Information that can accelerate research is often trapped in medical records. As a result, drug researchers can’t access the information they need to advance treatments. But, as a patient, you can unlock your records and contribute them to research in a private and secure way.
This will be a global study; however, a current limitation is medical records need to be in English as medical record review services in other languages are not yet offered. International families with English medical records will be enrolled in the second round, with additional languages supported in the future.
In addition to giving researchers access to cumulative data on medications, tests, labs and medical notations, all participants will have access to their own information and can even download it to keep for their own records to share with any new providers they may be in the future.
The information gathered from health records can be used to further research and find better treatments for the 5p- syndrome community by sharing anonymized data with researchers, clinicians and pharmaceutical companies. Academic researchers will have free access (with IRB approval), while industry and pharmaceutical partners will pay a fee. If any of your data is used in research conducted by pharmaceutical companies developing treatments for your disease, you will share in licensing fees and receive a monetary gift card. In this way, your data also becomes your currency.
Simons Searchlight (Include Simon’s logo here)
Join the 5p- Syndrome Study at Simons
Simons Searchlight is a study funded by Simons Foundation that collects natural history information for families with specific genetic changes that have a known association to neurodevelopmental disorders, like seizures, developmental delay, and/or features of autism including 5p- syndrome.
Simons hosts a secure place to share your genetic, developmental, and medical information. Simons also collects interview and survey data from families “patient-reported outcomes,” which provide important information that complements medical history. De-identified data is made available to interested researchers for IRB-approved projects.
Matrix (include Matrix logo here)
Join the 5p- Syndrome Study at Matrix
Register for Matrix here:
https://healthmatrixprod.b2clogin.com/healthmatrixprod.onmicrosoft.com/b2c_1_matrix_sign_in/oauth2/v2.0/authorize?client_id=0c2a129d-5
Better Together- Integration Across Platforms
Cri du Chat Research Foundation is excited to announce the joint partnerships of Citizen Health and Simons Searchlight. Through these partnerships, participants can consent for their data to be connected between Citizen Health and Simons. With this integration, researchers will have anonymized access to the structured medical data from Citizen Health and the medical history and patient/caregiver-reported survey data in Simons Searchlight. By linking individual patient data across these natural history studies in a secure, anonymized way, researchers will get deeper, richer, longitudinal data on SRD patients to further accelerate our understanding of 5p- syndrome. If you experience any issues with registering or have a comment to share, please email info@criduchatresearch.org.
The CRID is a patient generated identifier specifically for use in clinical research. he parent/patient decides who to share it with. Learn more here https://www.youtube.com/watch?v=nUVJCehcVIo. Create an account here https://thecrid.org/send_link.php?op=cd56f9fb2b51.