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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Could a painless light sensor replace the needle for anemia screening?
Diagnosis Not yet recruitingThis study tests whether a non-invasive device that uses light to measure hemoglobin through the skin can accurately detect anemia. Researchers will compare its readings with standard blood tests in 150 adults in Jakarta. If the device proves reliable, it could offer a quick, pai…
Sponsor: Tarumanagara University • Aim: Diagnosis
Last updated Jul 17, 2026 00:00 UTC
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New DNA test could end years of uncertainty for mitochondrial disease patients
Diagnosis Not yet recruitingThis pilot study aims to develop a new digital PCR technique to more accurately diagnose mitochondrial diseases. Researchers will test the method on blood, urine, saliva, and muscle fiber samples from 4 patients. If validated, the technique could be faster and cheaper than curren…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis
Last updated Jun 27, 2026 12:04 UTC
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Peptide vs whole protein: which formula boosts absorption in ICU patients?
Knowledge-focused Not yet recruitingThis trial tests whether short peptide enteral nutrition formulas help ICU patients with a high risk of pancreatic exocrine insufficiency absorb protein better than standard whole protein formulas. Researchers will measure amino acid levels and other markers in 250 critically ill…
Phase: PHASE4 • Sponsor: Shanghai 10th People's Hospital • Aim: Knowledge-focused
Last updated Jul 18, 2026 00:00 UTC