A Phase II, Single Arm Study to Assess Safety and Efficacy of Oral Deoxycytidine and Deoxythymidine for Mitochondrial Depletion Disorders in Children and Adults

What this Trial Is About

Mitochondrial DNA depletion syndromes (MDS) are a group of inherited disorders that cause severe reduction in mitochondrial DNA, leading to impaired energy production in various tissues and organs. These disorders are caused by mutations in specific genes related to mitochondrial nucleotide synthesis and have different clinical forms. Currently, no effective treatment exists, and management focuses on symptom relief. Research has shown that increasing the availability of certain deoxyribonucleosides may help prevent mitochondrial DNA depletion and improve mitochondrial function. This Phase II, single-center trial studies the safety, tolerability, and effectiveness of a combination of deoxycytidine and deoxythymidine (dC/dT100-400) given orally to children and adults aged 0 to 60 years diagnosed with MDS and specific gene mutations. The treatment is administered daily with doses gradually increasing from 100 mg/kg to 400 mg/kg over several weeks. Participants receive this investigational product as the sole intervention during the study. Participants will be closely monitored through genetic follow-ups and clinical scales that measure disease progression and neurological function. Assessments include blood tests for mitochondrial function and possible side effects, neurological evaluations, and patient questionnaires. Researchers will track adverse events and measure mitochondrial DNA levels and markers of mitochondrial health over a 260-week period. The study aims to determine whether this treatment can improve clinical status and is safe for long-term use.

Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome