Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
MONDO:0013116Also known as: congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome, congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, myopathy, mitochondrial progressive, with congenital cataract and developmental delay, mitochondrial Complex deficiency, combined, myopathy with cataract and combined respiratory chain deficiency, myopathy with cataract and combined respiratory-chain deficiency, myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
18 clinical trials for this condition and its sub-types, 0 tagged with Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome itself.
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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 2 • 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 3 • Sponsor: PTC Therapeutics • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC