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 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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Can intense walking training help brain injury patients walk better?
Symptom relief Not yet recruitingThis study looks at whether high-intensity walking training can help people with cerebellar damage (a part of the brain that controls balance and coordination) improve their walking ability. Twenty participants will either do intense walking exercises or standard training. The go…
Phase: NA • Sponsor: Indiana University • Aim: Symptom relief
Last updated Jun 27, 2026 13:01 UTC
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AI vs. experts: can a computer judge speech as well as a human?
Knowledge-focused Not yet recruitingThis study will compare how well an AI program (Blings) measures speech clarity in 40 adults with speech disorders from stroke or other neurological conditions. Two speech therapists will also rate the same speech samples. The goal is to see if the AI can reliably replace or assi…
Sponsor: Pusan National University Yangsan Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC