Studying the natural history of SPLIS disease
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism, Immune system & allergy, Kidney & urinary, Skin, Women’s health & pregnancy clinical trials.
This study collects health information from people with SPLIS to better understand the condition over time. It may include your siblings if they also have SPLIS, and data from patients who have passed away.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You must have a confirmed genetic diagnosis of SPLIS (two changes in the SGPL1 gene).
- You can join no matter what symptoms you have or treatments you've tried.
- Your sibling can join if they also have a confirmed genetic diagnosis, even without symptoms.
- You cannot join if you have used an experimental drug in the last 30 days, but off-label use of approved drugs is okay.
- If you are living, you (or your parent) must sign a consent form.
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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