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Spastic ataxia 3

MONDO:0012664

Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.

Also known as: ARSAL, MARS2 autosomal recessive spastic ataxia, SPAX3, autosomal recessive spastic ataxia caused by mutation in MARS2, autosomal recessive spastic ataxia type 3, spastic ataxia type 3, autosomal recessive spastic ataxia with leukoencephalopathy, spastic ataxia 3, autosomal recessive

14 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Hereditary disease (188) Inborn mitochondrial metabolism disorder (59) Inborn errors of metabolism (47) Mitochondrial disease (40) Human disease (15) Developmental defect during embryogenesis (8) Hereditary neurological disease (6)
Trials to join now! 6 Not yet recruiting 1 Not yet finished but already full! 4 Completed 2 Terminated 1
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  • New DNA test could end years of uncertainty for mitochondrial disease patients

    Diagnosis Not yet recruiting

    This 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…

    Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Diagnosis

    Last updated Jun 27, 2026 12:04 UTC

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