Abetalipoproteinemia
MONDO:0008692Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.
Also known as: Bassen-Kornzweig disease, abetalipoproteinemia, homozygous familial hypobetalipoproteinemia, ABL, Bassen Kornzweig syndrome, Bassen-Kornzweig syndrome, Betalipoprotein deficiency disease, MTP deficiency
36 clinical trials for this condition and its sub-types, 2 tagged with Abetalipoproteinemia itself.
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Blood transfusion thresholds tested to save elderly surgical patients
Disease control CompletedThis study tests whether giving blood transfusions more liberally (when hemoglobin drops to 9 g/dL) versus more restrictively (when it drops to 7.5 g/dL) reduces death and serious complications like heart attack, stroke, or kidney injury in patients aged 70 and older undergoing n…
Phase 3 • Sponsor: Johann Wolfgang Goethe University Hospital • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Laser test could objectively measure nerve pain for first time
Diagnosis CompletedThis study tested whether a diode laser can act as a biomarker to measure neuropathic pain in people with peripheral neuropathy. Researchers compared pain responses to a lidocaine patch versus a placebo patch in 75 participants. The goal was to see if the laser test could disting…
Sponsor: University of Utah • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC
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Anemia in kids may be tied to bigger hearts, study finds
Knowledge-focused CompletedThis study explored whether low hemoglobin (anemia) is linked to an enlarged heart (cardiomegaly) in children up to 18 years old. Researchers used chest X-rays and echocardiograms to check for heart enlargement in 56 anemic children. The goal was to better understand how anemia a…
Sponsor: Universitas Sumatera Utara • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Rare cholesterol disorder linked to hidden eye risk
Knowledge-focused CompletedThis study looked at 10 people with rare genetic conditions that cause very low cholesterol and trouble absorbing vitamins. Researchers measured a protective pigment in the eye called macular pigment, which may be low in these patients and could explain why some still develop vis…
Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:01 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC