Actively Recruiting
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-03-02
250
Participants Needed
1
Research Sites
518 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work. Objective: To learn more about SLOS and related disorders and how these diseases affect participants and relatives. Eligibility: People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed. Design: Participants will be screened with a medical record review. Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body. Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history. Participation will last for several years.
CONDITIONS
Official Title
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males or females of any age with a clinical, biochemical, or genetic diagnosis of Smith-Lemli-Opitz Syndrome
- Males or females of any age with a clinical, biochemical, or genetic diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type 2, or another inborn error of cholesterol synthesis
- Males or females of any age with clinical suspicion of an inborn error of cholesterol synthesis, metabolism, or impaired cholesterol homeostasis
- Biologic parents of affected individuals or known carriers based on prior genetic testing who can provide blood, urine, skin biopsy, or tissue samples
You will not qualify if you...
- Affected individuals unable to travel to NIH for on-site participation due to their medical condition (may participate via telemedicine or biomaterials parts)
- Individuals unable to comply with the protocol or with medical conditions increasing participation risk (may participate via telemedicine or biomaterials parts)
- Carrier adults unwilling or unable to provide blood, urine, skin biopsy, or tissue samples
- Pregnant females excluded from evaluations requiring sedation, radiation, or lumbar puncture; blood draw volumes minimized or avoided if anemia of pregnancy is present
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
D
Derek M Alexander
CONTACT
F
Forbes D Porter, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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