Clinical trials: Abetalipoproteinemia
Adrenal Insufficiency, Cirrhosis
Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients?
The hepatoadrenal syndrome has been well described in the literature and is known to be associated with poorer outcomes in both stable and critically ill cirrhotic patients.
- Conditions
- Adrenal Insufficiency, Cirrhosis, Spur Cell Anemia, Lecithin Acyltransferase Deficiency
- Trial name
- NCT03368066
- Testing
- Cosyntropin
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- University of Virginia
Primary Intestinal Hypocholesterolemia, Abetalipoproteinemia
CArotenoid in hypoChOlesterolemia
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of plasmatic lipids (mainly triglycerides, total cholesterol (TC), LDL-cholesterol (LDL-C), and apolipoprotein B…
- Conditions
- Primary Intestinal Hypocholesterolemia, Abetalipoproteinemia, Chylomicron Retention Disease
- Trial name
- CaCo (NCT05208879)
- Testing
- Characterization of carotenoid status and plasma levels of oxidative stress markers in patients (case group only), Characterization, evaluation and comparison of macular pigment density
- Where
- 3 sites in France
- Volunteers
- 10 people
- Sponsor
- Hospices Civils de Lyon
Abetalipoproteinemia
Vitamin Replacement in Abetalipoproteinemia
This study will determine whether short term intravenous infusion of vitamins A and E in patients with abetalipoproteinemia can reverse disease symptoms in these patients.
- Trial name
- NCT00004574
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cirrhosis
Vitamin E Supplement in Patients With Cirrhosis and Acanthocytosis
Acanthocytes, also termed spur cell, are large erythrocytes covered with spike-like projections which are associated with severe hemolytic anemia. In advanced cirrhosis, acanthocytes may account for 20 to 30% of red blood cells.
- Trial name
- NCT01463735
- Testing
- Vitamin E supplement (tocofersolan)
- Where
- Switzerland
- Volunteers
- 27 people
- Sponsor
- University Hospital, Geneva
Eye Diseases Hereditary, Retinal Disease
Inherited Retinal Degenerative Disease Registry
The My Retina Tracker® Registry is sponsored by the Foundation Fighting Blindness and is for people affected by one of the rare inherited retinal degenerative diseases studied by the Foundation.
- Conditions
- Eye Diseases Hereditary, Retinal Disease, Achromatopsia, Bardet-Biedl Syndrome
- Trial name
- MRTR (NCT02435940)
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- Foundation Fighting Blindness