Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011421Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.
Also known as: mitochondrial complex V deficiency, ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency, MC5DN1, mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2, Complex 5 mitochondrial respiratory chain deficiency, mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type, mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1
13 clinical trials for this condition and its sub-types, 0 tagged with Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 itself.
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Last chance access: vatiquinone for mitochondrial disease patients
Disease control Expanded access (ended)This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…
Sponsor: Medical University of South Carolina • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New study tests workplace coaching to keep Parkinson's patients on the job
Symptom relief OngoingThis study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…
Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
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MRI scans could unlock secrets of rare muscle disease
Knowledge-focused By invitation onlyThis study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused By invitation onlyThis study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC