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Cholesterol biosynthetic process disease
MONDO:0045017A disease that has its basis in the disruption of cholesterol biosynthetic process.
Also known as: cholesterol synthesis disease, disorder of cholesterol biosynthetic process, disorder of cholesterol synthesis
6 clinical trials for this condition and its sub-types, 2 tagged with Cholesterol biosynthetic process disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Cholesterol biosynthetic process disease
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Smith-Lemli-Opitz syndrome 6 trials
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Lathosterolosis 3 trials
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Desmosterolosis 2 trials
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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Rare genetic disorder studied for clues to better care
Knowledge-focused CompletedThis study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC