Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

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ClinicalTrials.gov Identifier: NCT00046202

Recruitment Status : Recruiting

First Posted : September 23, 2002

Last Update Posted : February 21, 2023

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View this study on Beta.ClinicalTrials.gov

Sponsor:

Information provided by (Responsible Party):

National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Study Description

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.

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Condition or disease
Lysosomal Storage Disease Cholesterol Metabolism

Detailed Description:

It is known that inborn errors of cholesterol synthesis give rise to human malformation/cognitive impairment syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabolism; however, this group of disorders now includes lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia (CDPX2), CHILD syndrome, HEM dysplasia, and some cases of Antley-Bixler syndrome (1-3). Due to the extremely rare occurrence of some of these disorders, the full phenotypic spectrum has yet to be defined. Cholesterol transport in cells can also cause a disorder known as Niemann-Pick Disease type C (NPC). NPC belongs to a group of disorders known as lysosomal storage disorders. The purpose of this protocol is to 1) allow for the collection of biomaterial and medical information that can be studied to gain insight into the pathological processes; 2) allow for the collection of DNA and medical information from individuals who have a phenotypic resemblance to known disorders of cholesterol synthesis, lysosomal storage disorders or individuals who may be carriers of these disorders.

Study Design

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Study Type :	Observational
Estimated Enrollment :	1000 participants
Observational Model:	Other
Time Perspective:	Other
Official Title:	Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders
Actual Study Start Date :	October 9, 2002

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Schindler disease

MedlinePlus related topics: Cholesterol Cholesterol Levels: What You Need to Know

Genetic and Rare Diseases Information Center resources: CHILD Syndrome Lathosterolosis

U.S. FDA Resources

Groups and Cohorts

Group/Cohort
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

Outcome Measures

Primary Outcome Measures :

sample collection [ Time Frame: event driven upon enrollment ]
collect sample to study rare manifestations or disease

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	Child, Adult, Older Adult
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

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

Criteria

INCLUSION CRITERIA:

Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00046202

Contacts

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Contact: Nicole M Farhat, C.R.N.P.	(301) 594-1765	nicole.farhat@nih.gov
Contact: Forbes D Porter, M.D.	(301) 435-4432	fdporter@mail.nih.gov

Locations

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United States, Maryland
National Institutes of Health Clinical Center	Recruiting
Bethesda, Maryland, United States, 20892

Sponsors and Collaborators

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

Investigators

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

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

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.

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.

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.

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Responsible Party:	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier:	NCT00046202
Other Study ID Numbers:	020311 02-CH-0311
First Posted:	September 23, 2002 Key Record Dates
Last Update Posted:	February 21, 2023
Last Verified:	November 16, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No
Plan Description:	.Data will be shared in aggregate related to the disorders represented by accrual.

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Studies a U.S. FDA-regulated Drug Product:	No
Studies a U.S. FDA-regulated Device Product:	No

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):


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

Additional relevant MeSH terms:

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Lysosomal Storage Diseases Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases

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