Study cholesterol metabolism in rare genetic conditions
Part of Genetic & congenital, Hormones & metabolism clinical trials.
This study looks at body chemistry (cholesterol-related lab findings) and physical features in people with Smith-Lemli-Opitz syndrome and related rare genetic cholesterol disorders. It may help researchers better understand these conditions and how they affect the body.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You have a diagnosis (or strong suspicion) of Smith-Lemli-Opitz syndrome or a related rare cholesterol-synthesis disorder
- You may qualify based on genetic test results, lab cholesterol findings, or specific medical observations
- You (or a parent/biologic carrier) are able and willing to provide study samples like blood and/or urine
- You may be asked for a skin biopsy and/or tissue from medically needed procedures (like surgery/autopsy)
- If you need an on-site visit, you must be able to travel to NIH (telemedicine or sample-only parts may still be possible)
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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