Lipid Metabolism, Inborn Errors Clinical Trial
OBJECTIVES:
I. Identify the genetic defect and fine map the gene that causes sitosterolemia.
PROTOCOL OUTLINE: Patients, family members, and normal volunteers provide blood samples for
genetic studies and may fill out a general health and medication history.
Linkage analysis and microsatellite screening is performed on genomic DNA, especially
chromosome 2p21, between microsatellite markers D2S1788 and D2S1352.
Positive results may be reported to the patient and may influence future treatment.
;
Observational Model: Natural History
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Suspended |
NCT01782027 -
Mendelian Reverse Cholesterol Transport Study
|
N/A | |
| Completed |
NCT00092898 -
An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)
|
Phase 3 | |
| Completed |
NCT00477594 -
Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
|
Phase 2 | |
| Not yet recruiting |
NCT02707211 -
Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases
|
Phase 0 | |
| Active, not recruiting |
NCT05425745 -
Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.
|
Phase 3 | |
| Completed |
NCT00607373 -
Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
|
Phase 3 | |
| Completed |
NCT00362180 -
Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
|
Phase 2 | |
| Terminated |
NCT00092833 -
Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)
|
Phase 3 | |
| Active, not recruiting |
NCT02635269 -
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
|
N/A | |
| Terminated |
NCT00260299 -
Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency
|
||
| Completed |
NCT00092807 -
Sitosterolemia Extension Study (0653-003)(COMPLETED)
|
Phase 3 | |
| Completed |
NCT00092820 -
Sitosterolemia Extension Study (0653-004)(COMPLETED)
|
Phase 3 | |
| Completed |
NCT00694109 -
An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
|
Phase 3 |