Plain-English translation of NCT06022016 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
This study doesn't follow the usual testing phases — it may be an observational study or a different type of research.
This is a family study designed to help researchers understand blood disorders that run in families with a DDX41 gene mutation. Researchers want to learn which family members are at risk, at what age diseases typically appear, and how to best monitor people who carry this gene change. By collecting information from patients and their relatives, the study aims to create guidelines for doctors to follow when caring for DDX41 carriers.
Doctors don't yet have clear recommendations for how to monitor and care for people who inherit a DDX41 gene mutation. This study exists to fill that gap by gathering real-world information about how blood disorders develop in these families over time.
You likely qualify if…
You likely don't qualify if…
If you are an index patient (someone with a blood disorder), you'll visit a genetics clinic, provide a saliva sample, fill out a health questionnaire, and give permission for researchers to contact your family members. If you're a family member, researchers will contact you by mail and ask you to provide a saliva sample to see if you carry the gene change. The study has no set end date—researchers will follow participants over time to see how diseases develop.
AI-generated summary from trial data · Jun 27, 2026 · Not medical advice
France