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Hemochromatosis type 1
MONDO:0021001Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
Also known as: C282Y/C282Y hemochromatosis, HFE-associated hereditary hemochromatosis, HFE-related hemochromatosis, HFE1, classic hemochromatosis, hemochromatosis, hemochromatosis type 1, hemochromatosis, type 1
26 clinical trials for this condition and its sub-types.
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Personalized bloodletting could ease life for iron overload patients
Disease control OngoingThis study tests whether using a blood marker called transferrin saturation to guide bloodletting (removing blood) improves quality of life in people with HFE haemochromatosis, a genetic condition causing iron buildup. 239 adults already on maintenance bloodletting will be random…
Phase: NA • Sponsor: Rennes University Hospital • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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New vitamin supplements aim to make life easier for kids with rare metabolic disorders
Symptom relief OngoingThis study tests new vitamin and mineral supplements called EasiVits for children aged 1-16 with inborn errors of metabolism (IEM). These supplements have less carbohydrate and no flavor, so they can be used with different diets and kids can add their own taste. The goal is to se…
Phase: NA • Sponsor: NeoteriQ Ltd. • Aim: Symptom relief
Last updated Jun 27, 2026 13:00 UTC
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Massive genetic study aims to unlock secrets of rare metabolic diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study will collect and analyze genetic data from 1000 people with suspected inherited metabolic diseases, including conditions like epilepsy and mitochondrial disorders. Researchers at Karolinska University Hospital aim to improve diagnosis by using advanced genetic testing …
Sponsor: Region Stockholm • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:38 UTC
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Study on COVID-19 and metabolic disorders pulled before it began
Knowledge-focused TerminatedThis study was designed to track how COVID-19 infection might worsen the condition of people with inherited metabolic diseases (IMD). Researchers planned to collect information from French patients with IMD who had or had COVID-19 to see how often their metabolic disease got wors…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC