Investigation of genetic disorders affecting cholesterol synthesis
Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders
National Institutes of Health Clinical Center (CC) · NCT00046202
This study is trying to learn more about genetic disorders that affect cholesterol production by collecting samples from people with these conditions and those who might carry them.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00046202 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on understanding inborn errors of cholesterol synthesis, which can lead to various medical issues including birth defects and cognitive impairments. Participants with these genetic disorders, such as Smith-Lemli-Opitz syndrome and others, will provide blood, urine, and other tissue samples for analysis. The study aims to collect biomaterials and medical information to better understand the pathological processes associated with these rare conditions. Additionally, individuals suspected of having these disorders or those who are carriers may also participate.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with or suspected to have an inborn error of cholesterol synthesis or those related to such individuals.
Not a fit: Patients without any genetic disorders related to cholesterol synthesis or those not connected to affected individuals may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of cholesterol synthesis disorders, leading to improved diagnosis and management for affected patients.
How similar studies have performed: While this study addresses a rare group of disorders, similar studies have shown promise in understanding genetic metabolic conditions, though the specific focus on cholesterol synthesis is less commonly explored.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Forbes D Porter, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Nicole M Farhat, C.R.N.P.
- Email: nicole.farhat@nih.gov
- Phone: (301) 496-9135
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Lysosomal Storage Disease, Cholesterol Metabolism, Inborn Error of Cholesterol Synthesis, Cholesterol, Lysosomal Storage, Natural History, Inborn Errors of Cholesterol Synthesis, Smith-Lemli-Optiz Syndrome