Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
MONDO:0010060Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families.
Also known as: IOSCA, OHAHA syndrome, Ohaha syndrome, TWNK autosomal recessive degenerative and progressive cerebellar ataxia, autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK, mitochondrial DNA depletion syndrome 7 (hepatocerebral type), mitochondrial DNA depletion syndrome type 7, ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
31 clinical trials for this condition and its sub-types.
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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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Brain study sheds light on Parkinson's and tics
Knowledge-focused CompletedThis completed study from the National Institute of Neurological Disorders and Stroke aimed to better understand how the brain controls movement and what goes wrong in movement disorders like Parkinson's disease, Tourette's syndrome, and dystonia. Over 1,200 adults—both patients …
Phase: NA • Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC
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Wrist-Worn gadget could help doctors monitor Parkinson's at home
Knowledge-focused CompletedThis study tested a wrist-worn device called the Personal KinetiGraph (PKG) to see if it can accurately measure movement problems in people with Parkinson's disease. Nineteen participants wore the device while researchers compared its readings to standard clinical tests and video…
Sponsor: Global Kinetics Corporation • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:54 UTC