Understanding Smith-Lemli-Opitz Syndrome and Related Cholesterol Disorders
Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
This study is trying to learn more about Smith-Lemli-Opitz Syndrome and similar cholesterol disorders by regularly checking on people with the condition and their families to help find better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Drugs / interventions | radiation |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05047354 on ClinicalTrials.gov |
What this trial studies
This study aims to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related cholesterol metabolism disorders by collecting both cross-sectional and longitudinal data. Participants, including individuals diagnosed with SLOS and their relatives, will undergo regular evaluations, including physical exams, surveys, and potential neurodevelopmental assessments. The study will also gather biorepository samples and maintain a comprehensive database of information collected over the past two decades to facilitate future therapeutic trials. The primary goal is to identify laboratory or clinical outcome measures for future treatments.
Who should consider this trial
Good fit: Ideal candidates include individuals of any age with a diagnosis or clinical suspicion of SLOS or other inherited cholesterol metabolism disorders.
Not a fit: Patients without a diagnosis or clinical suspicion of cholesterol metabolism disorders may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and measurement of treatment efficacy for SLOS and related disorders.
How similar studies have performed: While this study focuses on a specific group of disorders, similar observational studies have shown success in understanding genetic and biochemical aspects of rare diseases.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Males or females of any age with any one of the following: * Clinical, biochemical, or genetic diagnosis of Smith-Lemli-Opitz Syndrome OR * Clinical, biochemical, or genetic diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type2 or another inborn error of cholesterol synthesis OR * Clinical suspicion of an inborn error of cholesterol synthesis, metabolism or impaired cholesterol homeostasis. Clinical observations may include, but are not limited to lipid-laden macrophages, abnormal LDL, HDL, total cholesterol, triglycerides, abnormal lipid electrophoresis, lipid storage in other tissues. OR -Biologic parents of affected individuals or known carriers based on previously done genetic testing who are willing and able to provide samples of any or all of the following: blood, urine, a skin biopsy, and/or tissue derived from clinically indicated surgery or autopsy. EXCLUSION CRITERIA: * Affected individuals who cannot travel to the NIH because of their medical condition will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study. * Affected individuals who, in the opinion of the investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study. * Carrier adults who are unable to or unwilling to provide any of the following samples: Blood, urine, skin biopsy sample or tissue derived from clinically indicated surgery or skin biopsy. * Female participants who are pregnant will be excluded from evaluations requiring sedation, radiation and LP. Total blood draw volumes will be kept at a minimum or if anemia of pregnancy is known, no blood will be taken for research testing.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Forbes D Porter, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Derek M Alexander
- Email: derek.alexander@nih.gov
- Phone: (301) 827-0387
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.