Condition: Mitochondrial Diseases · Mitochondrial Encephalomyopathy · Mitochondrial Encephalopathy · Sponsor: Kenneth Myers, MD
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis. MDS are phenotypically heterogeneous and usually classified as myopathic, encephalomyopathic, hepatocerebral or neurogastrointestinal. No efficacious therapy is available for any of these disorders. Affected individuals should have a comprehensive evaluation to assess the degree of involvement of different systems. Treatment is directed mainly toward providing symptomatic management. No treatment for MDS. Clinical trials studies and in vitro/in vivo research studies showed that the enhancement of the salvage pathway by increasing the availability of deoxyribonucleosides needed for each specific genetic defect prevents mtDNA depletion. Early recognition and immediate therapy to restore mitochondrial function could potentially improve clinical course. Confirming the benefit of deoxynucleosides as a safe and potentially efficacious therapy, will lead to the availability of the first specific and effective treatment for Mitochondria Depletion Disorders. In this phase II Trial a mix of Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) will be used as ear…
This description comes directly from the study's public registry record.
Kenneth Alexis MD Myers, MD PhD FRCPC · 514-934-1934 · kenneth.myers@mcgill.ca
Saoussen Dr Berrahmoune, PhD · 514-934-1934 · saoussen.berrahmoune@rimuhc.ca
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| Research InstituMcGill University Health Centre - Children Hospital of Montreal | Montreal, Quebec, Canada | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04802707