The more we know, the more we can help
The Foundation funds research into Smith-Lemli-Opitz and strives to increase awareness about the syndrome.
Studying life with SLO
Natural History Study
Watch the video on the right to listen to Dr. Simona Bianconi, MD discuss the SLOS NIH natural history study.
Be part of progress
Participate in a Study
Researchers at the National Institutes of Health (NIH), in Bethesda, Maryland, are seeking individuals with SLOS (Smith-Lemli-Opitz syndrome) or related cholesterol disorders to participate in a research study. This is a neurodevelopmental disease, with symptoms often apparent in infancy or early childhood. Individuals with SLOS may have symptoms such as developmental delay, challenging behaviors, low muscle tone, failure to feed, poor growth, and sometimes abnormalities in other organs.
The main purpose of this research study is to learn more about the signs and symptoms of SLOS to better understand it and how it develops over time. The NIH also hopes to identify markers of disease to serve as targets for future therapeutic trials.
Who can participate in this study?
- Any person who has been diagnosed with SLOS or related cholesterol disorders such as desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type 2, and some cases of Antley-Bixler syndrome
- Healthy (unaffected) family members of individuals with the above disorders.
- Children must have guardian consent to participate.
What is involved?
- All participants will have medical exams and evaluations by experts in the field.
- Blood, urine, spinal fluid, and skin biopsy samples may be collected.
- There is no cost for study-related tests or procedures.
- Lodging and domestic travel compensation will be provided.
- Telehealth visits for those who are unable to travel to the NIH.
Study Name & Link
Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
National Institutes of Health
9000 Rockville Pike, Bldg. 10
Bethesda, Maryland, USA
To find out more about this study, please call toll-free:
Other Current NIH Studies
Participate in a SLOS Research Study
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Thank you for considering being part of a SLOS research study.