Research Studies
Your participation accelerates research. Join natural history studies that collect medical records, survey data, and genetic information to help develop treatments for 5p- syndrome. Through secure, privacy-protected platforms, you can contribute valuable data to researchers while potentially receiving compensation when your anonymized data helps develop new therapies.
What is a Natural History Study?
To improve care and develop treatments specific for 5p- syndrome, researchers need a better understanding of how the disorder progresses over time. Natural history studies collect information through questionnaires, surveys, and medical record reviews to identify trends and patterns among patients with the same condition.
Why participate? Your involvement helps create a readily-available pool of data that speeds research efforts and accelerates development of future treatments and therapies.
Help Advance 5p- Syndrome Research:
Submit Your Child’s EEG
Many families affected by 5p- syndrome are familiar with EEGs—tests that track brain activity to detect abnormalities, such as those seen in epilepsy. Researchers studying 5p- syndrome and other neurodevelopmental disorders (NDDs) believe that individuals with 5p- may show a distinctive EEG pattern. If confirmed, this unique pattern could become a biomarker—a powerful tool to help track disease progression and response to treatment.
Since many individuals with 5p- syndrome have already undergone EEGs, collecting and analyzing these tracings could help identify consistent patterns. If a therapy changes that specific EEG signature during a clinical trial, it could be strong evidence that the treatment is effective.
We need your help. Please consider submitting your child’s EEG tracing (not just the summary report) to the Matrix platform. EEGs from any point in your child’s life are valuable.
By building an EEG database for 5p- syndrome, we can take a crucial step toward developing meaningful treatments. Biomarkers are essential for designing and evaluating clinical trials—and your participation makes a difference. Join Matrix and upload your child’s EEG tracing today.
Available Studies
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Citizen Health Study
Global study using medical records to advance research
Citizen Health collects meaningful information from medical records across multiple hospitals and providers to understand how 5p- syndrome affects daily life. Often, valuable research data is trapped in medical records where drug researchers can't access it—but as a patient, you can unlock this information and contribute it securely to research.
Key Benefits:
Access and download your own medical information to share with new providers
Contribute to research through anonymized data sharing with researchers, clinicians, and pharmaceutical companies
Earn compensation: If pharmaceutical companies use your data to develop treatments, you'll receive monetary gift cards through licensing fees
Current Requirements: Medical records must be in English (additional languages coming in future phases)
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Simons Searchlight Study
Comprehensive genetic and developmental data collection
Funded by the Simons Foundation, this study focuses on genetic changes associated with neurodevelopmental disorders including 5p- syndrome. Simons Searchlight provides a secure platform to share genetic, developmental, and medical information.
What's Included:
Interview and survey data from families ("patient-reported outcomes")
Genetic and medical history information
De-identified data made available to researchers for IRB-approved projects
Information that complements traditional medical records
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COMBINEDBrain Biorepository Study
Blood and urine sample collection for biomarker research
COMBINEDBrain collects urine and blood samples (processed for plasma and finger stick) to be stored in the COMBINEDBrain Biorepository. These samples are used for select biomarker projects and shared with interested and qualified researchers.
Why biomarkers matter: Biomarkers provide objective measurements that researchers use to test the efficacy of treatments like gene therapies by measuring levels in blood, urine, and other biological markers. This is part of CDCRF's work to prepare our patient community for clinical trials.
Sample collection locations: Collection occurs at conferences throughout 2025