Methylmalonic aciduria and homocystinuria type cblC
MONDO:0010184A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
Also known as: cblC defect, cobalamin C defect, cobalamin c disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC, methylmalonic aciduria and homocystinuria type cblC, methylmalonic aciduria with homocystinuria, type cblC, MAHCC, cblC
28 clinical trials for this condition and its sub-types.
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Can a High-Calorie drink help malnourished kids grow?
Disease control Recruiting nowThis study tests whether daily high-calorie nutritional supplements can improve growth and development in 200 malnourished children aged 1 to 3 years. One group gets the supplements plus nutrition education, while the other gets only education and diet advice. Researchers will me…
Phase: NA • Sponsor: Children's Hospital of Chongqing Medical University • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
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Could a smaller dose of nutrients protect kids from malnutrition?
Prevention Recruiting nowThis study compares two types of nutrient supplements—small-quantity and medium-quantity—to see if the smaller one works just as well at preventing undernutrition in children aged 6 to 12 months. About 980 infants in Pakistan will receive one of the two supplements daily for 6 mo…
Phase: NA • Sponsor: Aga Khan University • Aim: Prevention
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 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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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 Aug 18, 2026 03:00 UTC
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Could Plant-Based hospital drinks be as good as Milk-Based ones? a new study aims to find out
Knowledge-focused Recruiting nowThis pilot study tests whether it's possible to run a larger trial comparing plant-based and animal-based oral nutritional supplements (ONS) in hospital patients at risk of malnutrition. Sixty patients from two Dutch hospitals will be randomly assigned to receive either a soy-bas…
Phase: NA • Sponsor: Radboud University Medical Center • Aim: Knowledge-focused
Last updated Aug 13, 2026 00:00 UTC
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Scientists launch deep dive into rare metabolic disease MMA
Knowledge-focused Recruiting nowThis study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 01, 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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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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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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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