Pancreatic insufficiency-anemia-hyperostosis syndrome

MONDO:0012992

A 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

23 clinical trials for this condition and its sub-types, 0 tagged with Pancreatic insufficiency-anemia-hyperostosis syndrome itself.

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Where it sits in the disease tree

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↑ Skeletal dysplasia (663) ↑ Exocrine pancreatic insufficiency (30) ↑ Congenital dyserythropoietic anemia (5) ↑ Mitochondrial complex IV deficiency, nuclear-type (1)

Including sub-types (23) Tagged with Pancreatic insufficiency-anemia-hyperostosis syndrome (0)

Trials to join now! 9 Not yet recruiting 4 Not yet finished but already full! 5 Completed 4 Terminated 1

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders

Disease control Stopped early

This study tested a drug called vatiquinone in 68 people with mitochondrial disease and epilepsy that doesn't respond to standard treatments. Participants were randomly assigned to receive either vatiquinone or a placebo for 24 weeks to see if the drug could reduce the number of …

Phase 2/3 • Sponsor: PTC Therapeutics • Aim: Disease control

Last updated Jun 27, 2026 12:03 UTC

Pancreatic insufficiency-anemia-hyperostosis syndrome

Where it sits in the disease tree

New drug aims to tame hard-to-control seizures in rare mitochondrial disorders