- Conditions
- Smith Lemli Opitz Syndrome, CHILD Syndrome, Lathosterolosis, Desmosterolosis
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 1 Day to 100 Years
- Enrollment
- 250 participants
- Healthy volunteers
- Accepts healthy volunteers
- Timeline
- 2021 – 2031
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland
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- Conditions
- Lysosomal Storage Disease, Cholesterol Metabolism
- Interventions
- Not listed
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- NIH
- Eligibility
- 1 Day to 99 Years
- Enrollment
- 342 participants
- Healthy volunteers
- Healthy volunteers not accepted
- Timeline
- Started 2002
- U.S. locations
- 1
- States / cities
- Bethesda, Maryland