Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
MONDO:0009783Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Also known as: POLG autosomal recessive progressive external ophthalmoplegia, autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1, PEOB1, arPEO, autosomal recessive progressive external ophthalmoplegia, cerebellar ataxia infantile with progressive external ophthalmoplegia
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