Recruiting

Observational Study

Sponsor:

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

Code:

NCT05047354

Conditions

Smith Lemli Opitz Syndrome

CHILD Syndrome

Lathosterolosis

Desmosterolosis

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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

Study ID

NCT05047354

Start date

Jun 23, 2021

Status verified date

Aug 7, 2026

Completion date

May 31, 2031

Anticipated

Primary completion date

May 31, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:

Males or females of any age with any one of the following:

  • Clinical, biochemical, or genetic diagnosis of Smith-Lemli-Opitz Syndrome OR
  • Clinical, biochemical, or genetic diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type2 or another inborn error of cholesterol synthesis OR
  • Clinical suspicion of an inborn error of cholesterol synthesis, metabolism or impaired cholesterol homeostasis. Clinical observations may include, but are not limited to lipid-laden macrophages, abnormal LDL, HDL, total cholesterol, triglycerides, abnormal lipid

electrophoresis, lipid storage in other tissues. OR

-Biologic parents of affected individuals or known carriers based on previously done genetic testing who are willing and able to provide samples of any or all of the following: blood, urine, a skin biopsy, and/or tissue derived from clinically indicated surgery or autopsy.

EXCLUSION CRITERIA:

  • Affected individuals who cannot travel to the NIH because of their medical condition will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study.
  • Affected individuals who, in the opinion of the investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from on-site participation. They may participate in the telemedicine or in the

biomaterials parts of the study.

  • Carrier adults who are unable to or unwilling to provide any of the following samples: Blood, urine, skin biopsy sample or tissue derived from clinically indicated surgery or skin biopsy.
  • Female participants who are pregnant will be excluded from evaluations requiring sedation, radiation and LP. Total blood draw volumes will be kept at a minimum or if anemia of pregnancy is known, no blood will be taken for research testing.

Study Design

Enrollment

250 participants

Anticipated

Interventions and Outcome Measures

Arms

1

Subjects with Smith-Lemli-Opitz syndrome

2

Subjects with Disorders of cholesterol synthesis and metabolism

Primary outcome measure

  • The primary objective of this study is to determine laboratory or clinical outcome measures that could be used in future therapeutic trials. [ Time Frame: ongoing ]
  • The secondary objectives of these studies are to define comorbidities and mortality of the disease, to identify potential participants for future therapeutic trials and to evaluate possible laboratory outcome measures in carriers and suspected c... [ Time Frame: ongoing ]

Central Contacts and Locations

Central contacts

Derek M Alexander

(301) 827-0387derek.alexander@nih.gov

Forbes D Porter, M.D.

(301) 435-4432fdporter@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

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

Last update posted

Aug 17, 2026

Last verified

Aug 7, 2026

Keywords

  • 7-dehydrocholesterol reductase
  • 7-dehydrocholesterol
  • cholesterol deficiency
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-05. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-08-17.