Hereditary myopathy with lactic acidosis due to ISCU deficiency
MONDO:0009706Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Also known as: ISCU myopathy, aconitase deficiency, iron-sulfur cluster deficiency myopathy, myopathy with exercise intolerance, Swedish type, HML, myoglobinuria due to abnormal glycolysis, myopathy with deficiency of succinate dehydrogenase and aconitase, myopathy with lactic acidosis, hereditary
48 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsBroader categories
-
Last chance access: vatiquinone for mitochondrial disease patients
Disease control NO_LONGER_AVAILABLEThis 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
-
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…
Phase: NA • Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Jun 27, 2026 13:07 UTC
-
Weekly Check-Ins could boost patient satisfaction for chronic pain
Knowledge-focused TerminatedThis study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…
Phase: NA • Sponsor: University of Texas at Austin • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
-
Can a special clinic get workers back on the job faster? norway launches massive study.
Knowledge-focused OngoingThis study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…
Phase: NA • Sponsor: Nordlandssykehuset HF • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:30 UTC
-
Massive PT study mines 4 million records to find what works best
Knowledge-focused OngoingThis study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …
Sponsor: ATI Holdings, LLC • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:11 UTC
-
Phone app vs. doctor: can a mobile tool catch infections after surgery?
Knowledge-focused TerminatedThis study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
-
MRI scans could unlock secrets of rare muscle disease
Knowledge-focused ENROLLING_BY_INVITATIONThis 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
-
Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis 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