NCT05047354

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism

Recruiting now Last updated 2 March 2026

What this trial tests

trial in Smith Lemli Opitz Syndrome in 250 participants. Currently enrolling.

Timeline

23 June 2021

Primary endpoint
31 May 2031

31 May 2031

Quick facts

Lead sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	250
Start date	23 June 2021
Primary completion	31 May 2031
Estimated completion	31 May 2031
Sites	1 location across United States

Conditions studied

• Smith Lemli Opitz Syndrome — all drugs for Smith Lemli Opitz Syndrome →
• CHILD Syndrome — all drugs for CHILD Syndrome →
• Lathosterolosis — all drugs for Lathosterolosis →
• Desmosterolosis — all drugs for Desmosterolosis →

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who can join

Adults 1 Day to 100, any sex, with Smith Lemli Opitz Syndrome or CHILD Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work.

Objective:

To learn more about SLOS and related disorders and how these diseases affect participants and relatives.

Eligibility:

People of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed.

Design:

Participants will be screened with a medical record review.

Participants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body.

Participants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history.

Participation will last for several years.

Publications & conference data

3 peer-reviewed publications reference this trial (live from Europe PMC):

1. Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
   Selvaraman A, Rahhal S, Bianconi S, Furnary T, et al · · 2025 · cited 2× · PMID 39271956 · DOI 10.1002/ajmg.a.63875
2. Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.
   Luke RA, Cawley NX, Rahhal S, Selvaraman A, et al · · 2024 · cited 2× · PMID 39244853 · DOI 10.1016/j.ymgme.2024.108570
3. Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.
   Bowman GR, Rahhal SN, Porter FD. · · 2026 · PMID 41344890 · DOI 10.1002/ajmg.a.64282