Registry for ENPP1 and ABCC6 deficiency
Part of Genetic & congenital clinical trials.
This registry collects information about people with rare genetic conditions called ENPP1 deficiency and ABCC6 deficiency. It helps doctors and researchers learn more about these conditions and may lead to better treatments in the future.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a genetic test showing ENPP1 deficiency or ABCC6 deficiency (confirmed by a certified lab).
- If you have ENPP1 deficiency with one mutation, you need certain symptoms like bone fractures, low bone density, or heart problems before age 40.
- For ABCC6 deficiency, you must be under 18 years old.
- You must be willing to sign a consent form and let researchers access your medical records.
- You cannot be currently enrolled in a drug study for INZ-701 (an experimental treatment).
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
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