MedTrace Logo

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

NCT05047354 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2026-03-02

No results posted yet for this study

Summary

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.

Conditions

  • Smith Lemli Opitz Syndrome
  • CHILD Syndrome
  • Lathosterolosis
  • Desmosterolosis

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • Forbes D Porter, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
1 Day
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-06-23
Primary Completion
2031-05-31
Completion
2031-05-31

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05047354 on ClinicalTrials.gov