Understanding Smith-Lemli-Opitz Syndrome and Related Cholesterol Disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.