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 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.