Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

NCT00046202 | Completed

• 2 other identifiers: 02031102-CH-0311
• Study Type: observational
• Target: 342
• Locations: 1 country
• Sites: 1

Brief Summary

This study will investigate the cause and medical problems associated with a group of genetic disorders known as inborn errors of cholesterol synthesis, in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll. Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis. Medical information will also be gathered from medical records, photographs, and X-rays.

Conditions

Lysosomal Storage Disease; Cholesterol Metabolism

Keywords

Inborn Error of Cholesterol Synthesis; Cholesterol; Lysosomal Storage; Natural History; Inborn Errors of Cholesterol Synthesis; Smith-Lemli-Optiz Syndrome; Lathosterolosis; Desmosterols; CHILD Syndrome; Greenberg Dysplasia; X Linked Dominant Chrondrodysplasia

Outcome Measures

Primary Outcomes (1)

• sample collection

  collect sample to study rare manifestations or disease

  event driven upon enrollment

Study Arms (2)

normal subjects

subjects in whom no disorder of cholesterol is suspected related to affected individuals

subjects suspected of cholesterol disorder

subjects in whom a disorder of cholesterol metabolism is suspected

Eligibility Criteria

• Age: 1 Day - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Convenience sampling: affected patients and their relatives, samples from biorepositories

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Kelley RI, Hennekam RC. The Smith-Lemli-Opitz syndrome. J Med Genet. 2000 May;37(5):321-35. doi: 10.1136/jmg.37.5.321.

  PMID: 10807690 BACKGROUND

• Nwokoro NA, Wassif CA, Porter FD. Genetic disorders of cholesterol biosynthesis in mice and humans. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226.

  PMID: 11592808 BACKGROUND

• Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510.

  PMID: 12116245 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Lysosomal Storage Diseases; Lathosterolosis; Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects; HEM dysplasia

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Forbes D Porter, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 21, 2002
• First Posted: September 23, 2002
• Study Start: October 9, 2002
• Last Updated: April 1, 2026

Record last verified: 2025-09-26

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)