Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Małgorzata J M Nowaczyk, Mira B Irons
https://pubmed.ncbi.nlm.nih.gov/23059950Actively Recruiting
Age: 1Day - 100Years
All Genders
Healthy Volunteers
ID05047354
Natural History Investigation Into 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 2026-06-04
250
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating Smith-Lemli-Opitz Syndrome (SLOS) and related inherited disorders of cholesterol metabolism, which can cause birth defects and developmental delays. This observational study aims to understand the natural history, clinical features, and biochemical aspects of these conditions to support future treatment research. The study also collects information about relatives and carriers to better define disease impact and possible outcome measures. Participants include individuals with diagnosed or suspected SLOS or related cholesterol disorders, as well as their relatives. The study involves a main in-person evaluation and three sub-studies, including biorepository sample collection, telemedicine history reviews, and caregiver surveys for deceased individuals. Participants may undergo exams, surveys, imaging, and sample collection during visits every 6 to 12 months. Participants will have physical exams, medical and behavioral surveys, eye and hearing tests, assessments of speech and swallowing, X-rays, and evaluations of functional needs. Some may have lumbar punctures and photographs taken. Those unable to visit in person can take part through annual virtual visits and sample collection at local labs. The study will follow participants for several years, aiming to identify clinical and laboratory measures useful for future therapeutic trials and to better understand disease morbidity and mortality.
CONDITIONS
Brief Title
Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
Who Can Participate
Age: 1Day - 100Years
All Genders
Healthy Volunteers
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
- Diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type 2, or another inherited cholesterol synthesis disorder
- Clinical suspicion of a cholesterol synthesis, metabolism, or homeostasis disorder based on specific clinical observations
- Biologic parents of affected individuals or known carriers willing to provide blood, urine, skin biopsy, or surgical/autopsy tissue samples
You will not qualify if you...
- Affected individuals unable to travel to the NIH for on-site participation may join only telemedicine or biomaterial collection parts
- Individuals unable to comply with the protocol or with medical conditions increasing participation risks are excluded from on-site visits but may join telemedicine or biomaterial parts
- Carrier adults unwilling or unable to provide required biological samples
- Pregnant females are excluded from evaluations involving sedation, radiation, or lumbar puncture; blood draw volumes are minimized or avoided if anemia is present
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or telemedicine)
Diagnostic Evaluation
Duration - Single or multiple visits over several weeks depending on individual assessments
Participants undergo in-person evaluations and assessments to characterize biochemical and phenotypical features of Smith-Lemli-Opitz Syndrome and related cholesterol metabolism disorders.
1 to 3 visits (in-person)
Sample Collection
Duration - Ongoing during study participation
Participants provide biological samples including blood, urine, CSF, DNA/RNA, and skin biopsy or tissue samples for biomarker discovery and characterization.
1 to 2 visits (in-person) for sample collection
Long-term Monitoring
Duration - Up to several years until study completion
Participants are monitored longitudinally through in-person and telemedicine visits to collect data on clinical outcomes, comorbidities, and mortality.
Periodic visits (in-person or telemedicine) as scheduled over years
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
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Research Team
D
Derek M Alexander
F
Forbes D Porter, M.D.
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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Published Research Related To This Trial
Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome.
M Irons, E R Elias, G Salen...
https://pubmed.ncbi.nlm.nih.gov/7684480A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.
D W SMITH, L LEMLI, J M OPITZ
https://pubmed.ncbi.nlm.nih.gov/14119520Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi...
https://pubmed.ncbi.nlm.nih.gov/39271956