Research Studies

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

A natural history study is a study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. A natural history study collects health information in order to understand how the medical condition or disease develops and how to treat the condition or disease.

Researchers continue to work on improved treatments and therapies for Smith-Lemli-Opitz syndrome. Our Foundation Member Families have opportunities to participate in the studies.

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

Study #000487-CH
Natural History Investigation into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

Location

National Institutes of Health
Clinical Center
9000 Rockville Pike, Bldg. 10
Bethesda, Maryland, USA

Contact Information

To find out more about this study, please call toll-free:
1-800-411-1222
TTY: 1-866-411-1010
Online: https://clinicaltrials.gov/

Dr. Samar Rahhal
samar.rahhal@nih.gov
+1-301-793-2122

Where families can stay

The Children's Inn at NIH

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Other comments

Testimonial

What Study Participants Say

Our visit to the NIH as part of the Natural History Study was life changing for our daughter. Not only were we looked after and supported as a family throughout our stay, we came home empowered with knowledge, tests, and research which essentially saved our daughter's vision.

The more we know, the more we can help