Clinical trials: Bassen-Kornzweig Syndrome
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)
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
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