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
34 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
-
Can intense walking training help brain injury patients walk better?
Symptom relief Not yet recruitingThis study looks at whether high-intensity walking training can help people with cerebellar damage (a part of the brain that controls balance and coordination) improve their walking ability. Twenty participants will either do intense walking exercises or standard training. The go…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 13:01 UTC
-
AI vs. experts: can a computer judge speech as well as a human?
Knowledge-focused Not yet recruitingThis study will compare how well an AI program (Blings) measures speech clarity in 40 adults with speech disorders from stroke or other neurological conditions. Two speech therapists will also rate the same speech samples. The goal is to see if the AI can reliably replace or assi…
Sponsor: Pusan National University Yangsan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC