ACO2-related optic atrophy with or without extraocular features
MONDO:1060120An optic atrophy in which the cause of the disease is monoallelic or biallelic variants in the ACO2 gene. ACO2 is a mitochondrial protein and thus, in addition to the optic atrophy features, features of this disease include abnormal mitochondrial morphology and can affect other organ systems. Extraocular features can include ataxia, spastic paraplegia, CNS abnormalities, neurodevelopmental phenotypes, and retinal degeneration.
Also known as: ACO2-related optic atrophy with or without extraocular features, optic atrophy 9, infantile cerebellar-retinal degeneration
17 clinical trials for this condition and its sub-types.
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Broader categories
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Could stem cells restore sight in damaged eyes?
Disease control Recruiting nowThis study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…
Phase: NA • Sponsor: MD Stem Cells • Aim: Disease control
Last updated Jul 01, 2026 00:00 UTC
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Super camera could catch eye diseases before they steal your sight
Diagnosis Recruiting nowThis study tests a special camera that takes detailed images of the retina using many wavelengths of light. Researchers hope it can find early signs of eye diseases like age-related macular degeneration, diabetic retinopathy, and glaucoma. About 1,000 adults in Melbourne, Austral…
Phase: NA • Sponsor: Center for Eye Research Australia • Aim: Diagnosis
Last updated Jun 27, 2026 12:24 UTC
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New drug aims to ease fatigue in mitochondrial disease
Symptom relief Recruiting nowThis Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…
Phase: PHASE2 • Sponsor: Pharming Technologies B.V. • Aim: Symptom relief
Last updated Jun 28, 2026 00:00 UTC
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NIH launches study to uncover link between infections and mitochondrial disease
Knowledge-focused Recruiting nowThis study at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 18, 2026 03:00 UTC
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Worldwide data pool could pave the way for mitochondrial disease trials
Knowledge-focused Recruiting nowThis study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …
Sponsor: LMU Klinikum • Aim: Knowledge-focused
Last updated Aug 09, 2026 00:00 UTC
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Scientists launch massive mitochondrial disease registry to unlock secrets of rare disorders
Knowledge-focused Recruiting nowThis study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:01 UTC
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New laser tech captures eye blood flow in unprecedented detail
Knowledge-focused Recruiting nowThis study aims to create a database of eye images using a new holographic Doppler laser device. The goal is to better visualize and measure blood flow in the retina and choroid, which is important for diagnosing eye diseases. About 123 adults, both with and without eye condition…
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Blood and skin samples could unlock new mitochondrial disease treatments
Knowledge-focused Recruiting nowThis study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…
Sponsor: Minovia Therapeutics Ltd. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC