Research · Participate
Participate in Research
5%
of rare diseases have FDA-approved therapies
Be Part of the Solution
Every family that shares data brings ZTTK closer to that threshold. Your participation does not require travel, procedures, or significant time — and it directly powers the research that could lead to treatments.
Four Steps to Get Involved
Get Your CRID
If you don't already have one, create a Clinical Research ID (CRID) to securely connect data across research studies.
Create Your CRID →Join ZTTK Research Connect
~2 minutes to sign the consentOur Foundation launched ZTTK Research Connect, our first IRB-approved research initiative, to securely link your family's data across studies by CRID and ask ZTTK-specific research questions. By joining, you can help our Foundation and researchers better understand ZTTK and advance research that matters to our families.
For more information, visit ZTTK Research Connect.
Join ZTTK Research Connect →Share Your Health Records
~5 minutes to enrollThrough our partnership with Citizen Health, US-based families can securely share de-identified medical records with researchers. Citizen retrieves your data directly from healthcare providers — a one-time setup that continuously feeds the research pipeline.
Enroll with Citizen Health →Complete Patient Surveys
~20 minutes initiallyThe Rare-X data collection program gathers patient-reported outcomes through structured surveys available in English, French, Spanish, and Portuguese. Start with the head-to-toe assessment, then complete follow-up surveys on specific symptoms over time.
Start with Rare-X →Other Ways to Participate
Donate Biosamples
The Foundation hosts biosample collections, and you can also take part in a Combined Brain research roadshow near you. Email Dr. Mara Cowen at mcowen@zttk.org to get started.
Donate to Research
Give through our donate page, or email mcowen@zttk.org to sponsor a research project or grant.
Join the Contact Registry
~2 minutesStay up to date on the latest research projects and community events.
Join the Registry →Why Your Data Matters
Tracking the Full Picture
Natural history studies track how a disease presents and progresses over time through questionnaires and medical record reviews — the evidence base regulators, researchers, and pharmaceutical companies require before investing in treatment development.
Designing Better Trials
Your data helps researchers understand how ZTTK changes over a lifetime, design clinical trials with meaningful endpoints, reduce the need for placebo arms in pediatric trials, and demonstrate that the ZTTK population is large and well-characterized enough to justify therapeutic investment.
A Return for Your Contribution
If any data you contribute is used in research conducted by pharmaceutical companies developing treatments, Rare-X participants may receive a share of licensing fees through their data monetization model.
Resources & Platforms
Citizen Health Platform
Secure medical record sharing for US families. One-time enrollment lets Citizen aggregate your health data and share it — de-identified — with qualified researchers.
Visit →Rare-X Data Collection
Global patient-reported registry available in four languages. Complete surveys on symptoms, treatments, and quality of life to build the evidence base for ZTTK.
Visit →ClinicalTrials.gov — ZTTK
Search the US federal database for any active or upcoming clinical trials related to ZTTK syndrome or SON gene disorders.
Visit →ZTTK GeneReview
Peer-reviewed clinical reference entry for ZTTK syndrome on GeneReviews, a trusted resource used by geneticists and clinicians worldwide.
Visit →Dingemans et al. — 52-Patient Study
The most comprehensive phenotypic analysis of ZTTK syndrome to date, documenting feature frequencies and genotype-phenotype correlations across 52 individuals.
Visit →Chan Zuckerberg Initiative — Rare As One
The ZTTK Foundation is part of the CZI Rare As One Network, connecting rare disease organizations to accelerate collaborative research.
Visit →FDA Real-World Data Case Study
See how patient-contributed real-world data from platforms like Citizen Health has been used to support FDA regulatory applications for rare disease treatments.
Visit →Combined Brain Initiative
Coalition of rare neurological disease foundations sharing research priorities, data, and advocacy strategies to accelerate progress across conditions.
Visit →Questions About Participating?
Our research team is happy to walk you through the process, answer questions about data privacy, or help you decide which programs are the best fit for your family.