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.
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AI stethoscope aims to spot hidden heart and lung problems in children
Diagnosis Recruiting nowThis trial is developing an AI-powered device that listens to children's heart, breath, and bowel sounds to identify signs of common diseases like congenital heart disease, bronchopneumonia, and abdominal issues. It will involve 30,000 children aged 0-18, some with these conditio…
Sponsor: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine • Aim: Diagnosis
Last updated Aug 14, 2026 00:00 UTC
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Wearable gadget aims to stop falls in neuropathy patients
Symptom relief Recruiting nowThis study tests a device called Walkasins, worn on the lower legs, that vibrates to give sensory feedback about foot pressure. The goal is to see if using it daily for six months improves balance and walking in 200 adults aged 55+ with peripheral neuropathy. Participants will do…
Phase: NA • Sponsor: RxFunction Inc. • Aim: Symptom relief
Last updated Jul 16, 2026 00:00 UTC
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New wearable gadget aims to ease movement problems in kids
Symptom relief Recruiting nowThis study is testing a device called ViBandz, which uses small vibrating motors strapped to the body to provide vibration therapy. Researchers want to see if it is easy and comfortable for children with neurological conditions to use at home. The study will involve 30 children a…
Sponsor: Children's Mercy Hospital Kansas City • Aim: Symptom relief
Last updated Jun 27, 2026 12:24 UTC
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New anemia drug enters early human testing
Symptom relief Recruiting nowThis early-stage study tests a new drug called APG-5918 in healthy volunteers and people with anemia (low red blood cells). The main goal is to check safety and how the body handles the drug, while also seeing if it can raise hemoglobin levels. About 105 participants will take pa…
Phase: PHASE1 • Sponsor: Ascentage Pharma Group Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 12:08 UTC
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Brain zaps may steady wobbly walk in ataxia patients
Symptom relief Recruiting nowThis study tests whether combining two types of non-invasive brain stimulation can improve balance and coordination in people with ataxia, a condition that affects movement. Researchers will enroll 30 adults with a confirmed ataxia diagnosis. Participants will receive a combinati…
Phase: NA • Sponsor: I.R.C.C.S. Fondazione Santa Lucia • Aim: Symptom relief
Last updated Jun 27, 2026 09:06 UTC
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Brain pacemaker tweak could help stroke and tremor patients speak and swallow better
Symptom relief Recruiting nowThis study looks at whether adjusting deep brain stimulation (DBS) can improve movement, speech, and swallowing in people already implanted with DBS for conditions like tremor, stroke, or traumatic brain injury. Researchers will test hand dexterity, grip strength, facial movement…
Phase: NA • Sponsor: Jorge Gonzalez-Martinez • Aim: Symptom relief
Last updated Jun 27, 2026 08:04 UTC
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Scientists hunt for hidden genes behind movement disorders and dementia
Knowledge-focused Recruiting nowThis study aims to find the genetic causes of movement disorders and dementias by analyzing DNA from up to 12,000 participants, including patients and their family members. Researchers will collect blood or saliva samples and look for gene mutations linked to these conditions. Th…
Sponsor: National Institute on Aging (NIA) • Aim: Knowledge-focused
Last updated Aug 18, 2026 01:00 UTC
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Massive data collection launched for brain surgery patients
Knowledge-focused Recruiting nowThis study is gathering medical information and samples from up to 5,000 people with neurosurgical conditions like brain tumors, epilepsy, and Parkinson's disease. Participants receive standard care while their data is collected for future research. No new treatments are being te…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Aug 15, 2026 00:00 UTC
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Massive study aims to unlock genetic secrets of movement disorders
Knowledge-focused Recruiting nowThis study aims to understand the link between genes and symptoms in people with inherited movement disorders. Researchers will study up to 2,500 participants, including patients and their family members, to identify new disease-causing genes and improve diagnosis. The goal is to…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 16, 2026 00:00 UTC
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Genetic clues to mysterious childhood movement disorders in vietnam
Knowledge-focused Recruiting nowThis study looks at children in Vietnam who have movement disorders—like tremors, jerks, or coordination problems—with no known cause. Researchers will collect medical information and blood samples to search for genetic changes that might explain these conditions. The goal is to …
Sponsor: University of Medicine and Pharmacy at Ho Chi Minh City • Aim: Knowledge-focused
Last updated Jul 12, 2026 00:00 UTC
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Massive study seeks answers for rare inherited nerve diseases
Knowledge-focused Recruiting nowThis study aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 10, 2026 00:00 UTC
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Massive study aims to unlock secrets of movement disorders
Knowledge-focused Recruiting nowThis natural history study is collecting information from up to 4,000 people with movement disorders (like Parkinson's disease or tremor) and their family members. Participants undergo exams, blood tests, and imaging, but receive no new treatments. The goal is to gather data that…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:02 UTC
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Thousands join fight against blindness by sharing their stories
Knowledge-focused Recruiting nowThis registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …
Sponsor: Foundation Fighting Blindness • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Mind-Controlled devices: new study aims to help paralysis patients
Knowledge-focused Recruiting nowThis study explores whether a non-invasive brain-computer interface (BCI) can help people with motor disorders, such as spinal cord injury or stroke, control assistive devices using their thoughts. Researchers will record brain signals with EEG and use machine learning to interpr…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC
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Bedside test may end guesswork in nerve pain treatment
Knowledge-focused Recruiting nowThis study aims to see if a quick bedside sensory test can predict which painkiller—pregabalin, duloxetine, or a placebo—works best for people with nerve pain in their feet. About 190 adults with diabetic, chemotherapy-related, or idiopathic nerve pain will try each treatment for…
Phase: PHASE2 • Sponsor: University of Rochester • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
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New registry aims to unlock secrets of brain stimulation in kids
Knowledge-focused Recruiting nowThis study is creating a shared database of children who have received deep brain stimulation (DBS) for movement disorders like dystonia, epilepsy, or Tourette syndrome. By pooling data from multiple hospitals, researchers hope to answer key questions about who benefits most and …
Sponsor: Boston Children's Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC
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Hospital tests if its own anemia rules actually get followed
Knowledge-focused Recruiting nowThis study looks at whether doctors at Siriraj Hospital follow a new guideline for treating anemia in patients before major surgery. Anemia is common in surgical patients and can lead to more blood transfusions and worse outcomes. The researchers will track 93 anemic patients to …
Sponsor: Siriraj Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
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4,000 patients to help unlock secrets of nerve disease
Knowledge-focused Recruiting nowThis study is collecting information from 4,000 adults with peripheral neuropathy (nerve damage) to better understand the condition. Researchers will combine standard tests with nerve ultrasound to see if it helps diagnose and track the disease. No new treatments are being tested…
Sponsor: Casa di Cura Dott. Pederzoli • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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Liquid nerve biopsy could unlock ALS secrets
Knowledge-focused Recruiting nowThis study is collecting nerve samples and biofluids from 400 people with ALS or peripheral neuropathies to find biological markers for early diagnosis and disease tracking. By analyzing individual cells, researchers hope to identify molecular changes that happen before symptoms …
Sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC
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New turkish tool to better assess muscle problems in kids
Knowledge-focused Recruiting nowThis study aims to translate the Hypertonia Assessment Tool (HAT) into Turkish and check if it works correctly. The HAT helps doctors identify different types of increased muscle tone in children with motor disorders. Researchers will test the tool on 70 children under 18 who hav…
Sponsor: Kastamonu University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC
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Anemia type may predict surgery danger
Knowledge-focused Recruiting nowThis study is observing 1000 adults having moderate- to high-risk surgery to see if the type and severity of anemia they have before surgery affects their risk of complications like heart injury, kidney injury, or stroke. Researchers will compare patients with iron-deficiency ane…
Sponsor: Peking Union Medical College Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC