Smith-Lemli-Opitz syndrome is a rare genetic condition characterized by developmental and physiological differences. Clinical trials for this syndrome explore treatment evaluations aimed at managing associated features and improving quality of life. ...
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Researchers are studying Smith-Lemli-Opitz Syndrome SLOS and related inherited disorders that affect cholesterol production and storage. These rare genetic conditions can cause birth defects and developmental delays. The study aims to better understand the natural history, clinical features, and biochemical aspects of these diseases to help develop future treatments and identify useful laboratory or clinical measures for evaluating therapies. Participants include individuals of any age diagnosed with or suspected to have SLOS or related cholesterol disorders, as well as their biological parents or carriers. The study includes in-person evaluations, telemedicine visits, and sample collection. Participants may undergo physical exams, surveys about medical and behavioral history, eye and hearing tests, assessments of speech and swallowing, X-rays, lumbar punctures, and photographs. Sub-studies include biorepository sample collection, telemedicine histories, and caregiver surveys for deceased individuals. Participants will have visits every 6 to 12 months, either in person or virtually, depending on their ability to travel. Samples such as blood, urine, and skin biopsies will be collected for biomarker research. Researchers will monitor disease features, comorbidities, mortality, and laboratory markers over several years. The study will also maintain a database with long-term information on affected individuals and carriers.