Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
MONDO:0012241Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.
Also known as: TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions, progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3, PEOA3, progressive external ophthalmoplegia, autosomal dominant 3
19 clinical trials for this condition and its sub-types.
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Your phone camera could soon spot eye disorders
Diagnosis Not yet recruitingThis study will check if an AI system can accurately measure eye movements from smartphone videos. About 1,000 adults with suspected eye movement issues will record a short video while following a moving target. The AI's measurements will be compared to expert ratings to see if i…
Sponsor: THYROSCOPE INC. • Aim: Diagnosis
Last updated Jun 27, 2026 13:01 UTC
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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