Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00046202|
Recruitment Status : Recruiting
First Posted : September 23, 2002
Last Update Posted : February 21, 2023
- Study Details
- Tabular View
- No Results Posted
- How to Read a Study Record
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.
|Condition or disease|
|Lysosomal Storage Disease Cholesterol Metabolism|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders|
|Actual Study Start Date :||October 9, 2002|
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
- sample collection [ Time Frame: event driven upon enrollment ]collect sample to study rare manifestations or disease
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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.
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
|Contact: Nicole M Farhat, C.R.N.P.||(301) firstname.lastname@example.org|
|Contact: Forbes D Porter, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Forbes D Porter, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Responsible Party:||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|
|Other Study ID Numbers:||
|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.|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Inborn Error of Cholesterol Synthesis
Inborn Errors of Cholesterol Synthesis
X Linked Dominant Chrondrodysplasia
Lysosomal Storage Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn