Study of SPLIS genetics and patient experiences
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism, Immune system & allergy, Kidney & urinary, Women’s health & pregnancy clinical trials.
This observational study and patient registry collects information from people diagnosed with SPLIS due to specific changes in the SGPL1 gene, including children and newborns. It helps researchers understand the condition better and may improve future care and research planning.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a diagnosis of SPLIS
- Your diagnosis is confirmed by genetic testing showing SGPL1 changes on both copies of the gene (bi-allelic pathogenic variants)
- You may join as the person with SPLIS, or as a family member/caregiver (or a healthy volunteer in some cases)
- If you are a healthy volunteer, you must not have diabetes, an active infection, fever, known HIV/AIDS, heart disease, or anemia
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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