Pancreatic insufficiency-anemia-hyperostosis syndrome
MONDO:0012992A rare syndromic mitochondrial disease in which the cause of the disease is a mutation in the COX4I2 gene. It is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Also known as: pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome, exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
21 clinical trials for this condition and its sub-types.
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Blood transfusion thresholds tested to save elderly surgical patients
Disease control CompletedThis study tests whether giving blood transfusions more liberally (when hemoglobin drops to 9 g/dL) versus more restrictively (when it drops to 7.5 g/dL) reduces death and serious complications like heart attack, stroke, or kidney injury in patients aged 70 and older undergoing n…
Phase: PHASE3 • Sponsor: Johann Wolfgang Goethe University Hospital • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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New drug shows promise for rare energy disorder
Disease control CompletedThis study tested a new drug called OMT-28 in 28 people with primary mitochondrial disease, a condition that affects how cells produce energy. Participants took the drug once daily for 6 months, and researchers measured safety, blood markers of inflammation, and symptoms like fat…
Phase: PHASE2 • Sponsor: Omeicos Therapeutics GmbH • Aim: Disease control
Last updated Jun 27, 2026 08:13 UTC
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Long-Term safety of mitochondrial drug confirmed in 101 patients
Disease control CompletedThis study looked at the safety of vatiquinone in 101 people with inherited mitochondrial disease who had already taken the drug in a previous study or treatment plan. The goal was to track any side effects until the drug became commercially available or the program ended. Partic…
Phase: PHASE3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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Anemia in kids may be tied to bigger hearts, study finds
Knowledge-focused CompletedThis study explored whether low hemoglobin (anemia) is linked to an enlarged heart (cardiomegaly) in children up to 18 years old. Researchers used chest X-rays and echocardiograms to check for heart enlargement in 56 anemic children. The goal was to better understand how anemia a…
Sponsor: Universitas Sumatera Utara • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC