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Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

StatusTerminated
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

The 50 most recent of 294 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. Trial status changed: Completed → Terminated Sponsor's reason: Study terminated due to low enrollment and availability of alternative protocols. Enrollment target: 342 to 344 · Primary and study completion dates: Nov 13, 2023v294 Show 2 more changesShow less
    • Enrollment target: 342 to 344
    • Primary and study completion dates: Nov 13, 2023
  2. 20 versions Re-verified since Nov 20, 2025, no change to tracked fieldsv274-v293
  3. Trial status: Recruiting to Completed Enrollment target: estimated 1000 to confirmed 342 · Site details revisedv273 Show 2 more changesShow less
    • Enrollment target: estimated 1000 to confirmed 342
    • Site details revised
  4. 28 versions Re-verified since Aug 31, 2024, no change to tracked fieldsv245-v272
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll. Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis. Medical information will also be gathered from medical records, photographs, and X-rays.
Trial Details
NCT Number NCT00046202
Lead Sponsor Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions Lysosomal Storage Disease, Cholesterol Metabolism
Enrollment 344 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov