Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MONDO:0009353Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.
Also known as: MTHFR deficiency, homocystinuria due to methylene tetrahydrofolate reductase deficiency, methylene tetrahydrofolate reductase deficiency, 5,10 alpha methylenetetrahydro-folate reductase deficiency, 5,10-alpha-methylenetetrahydro-folate reductase deficiency, Homocysteinemia due to methylenetetrahydro-folate reductase deficiency, Homocysteinuria due to methylenetetrahydro-folate reductase deficiency, MTHFR deficiency, thermolabile type
8 clinical trials for this condition and its sub-types, 1 tagged with Homocystinuria due to methylene tetrahydrofolate reductase deficiency itself.
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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…
Sponsor: RxFunction Inc. • Aim: Symptom relief
Last updated Jul 16, 2026 00:00 UTC
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NIH launches major study to unlock secrets of rare bone diseases
Knowledge-focused Recruiting nowThis study aims to collect information and bone samples from up to 1,000 people with bone or mineral disorders, such as tumor-induced osteomalacia or familial tumoral calcinosis. Participants receive standard medical evaluations and may provide bone tissue from surgery or a biops…
Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused
Last updated Sep 18, 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 Sep 18, 2026 00:00 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