Medvisis Switzerland AG plans to operate in this Disease Are

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Primary mitochondrial disease (PMD) is a group of inherited disorders caused by dysfunction of mitochondria, the organelles responsible for producing cellular energy in the form of adenosine triphosphate (ATP). Because mitochondria are essential for energy generation in nearly all tissues, mitochondrial disease can affect multiple organ systems, particularly those with high energy demands such as the brain, skeletal muscle, heart, and liver. 

Primary mitochondrial diseases arise from pathogenic variants in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). 

Clinically, PMD is highly heterogeneous, with symptom onset ranging from infancy to adulthood. Multisystem involvement is common, particularly neurological and muscular manifestations such as developmental delay, seizures, stroke-like episodes, muscle weakness, and exercise intolerance. Cardiac, endocrine, gastrointestinal, auditory, and visual systems may also be affected. While classic syndromes such as MELAS and Leigh syndrome are recognized, many patients present with overlapping or atypical features.

Diagnosis is challenging and relies on clinical evaluation, biochemical testing, imaging, and genetic analysis. As per today, there is no curative therapy, and management is primarily supportive, focusing on symptom control, prevention of metabolic stress, and multidisciplinary care. Ongoing research aims to develop targeted and gene-based treatments. 

Medvisis has in-licenced a highly promising product that is currently tested in a Ph3 clinical trials. For more information, please visit www.khondrion.com

Gorman GS et al. Mitochondrial diseases. Nature Reviews Disease Primers. 2016.

Chinnery PF. Primary mitochondrial disorders overview. GeneReviews. Updated regularly.