NCT04802707 Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
| NCT ID | NCT04802707 |
| Status | Recruiting |
| Phase | Phase 2 |
| Sponsor | Kenneth Myers, MD |
| Condition | Mitochondrial Diseases |
| Study Type | INTERVENTIONAL |
| Enrollment | 200 participants |
| Start Date | 2021-10-18 |
| Primary Completion | 2029-06-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
In Phase 2, researchers evaluate early signs of effectiveness. You may be randomized to receive the active treatment or a comparator. Monitoring continues closely.
This trial targets 200 participants in total. It began in 2021-10-18 with a primary completion date of 2029-06-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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 early treatment of MDS. The dose used has been already used in other clinical trials, and appears to effective and well-tolerated. The subjects included are children (0-18Y), with positive MDS diagnosis and express mutations in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK. Subjects with MDS expressing neurological phenotypes dysfunction.
Eligibility Criteria
Inclusion Criteria: * Children \& Adults (0 -60 Y) * Written informed consent obtained, * Clinical Diagnosis of a Mitochondrial Depletion Disorder. * Pathogenic variant(s) Homozygote and Heterozygote in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK * Females of childbearing age: Negative urinary pregnancy test at screening Agree to use effective contraception for the duration of the study Exclusion Criteria: * Inability of a parent or legal guardian to give informed consent for any reason * Chronic severe diarrhea
Contact & Investigator
Kenneth Alexis MD Myers, MD PhD FRCPC
PRINCIPAL INVESTIGATOR
RI-MUHC, Children Hospital of Montreal (MUHC), McGill University
Frequently Asked Questions
Who can join the NCT04802707 clinical trial?
This trial is open to participants of all sexes, aged 1 Month or older, up to 60 Years, studying Mitochondrial Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT04802707 trial and what does that mean for participants?
Phase 2 trials evaluate whether the treatment shows signs of effectiveness while continuing to monitor safety. More participants are enrolled than in Phase 1 to help refine the treatment protocol.
Is NCT04802707 currently recruiting?
Yes, NCT04802707 is actively recruiting participants. Contact the research team at kenneth.myers@mcgill.ca for enrollment information.
Where is the NCT04802707 trial being conducted?
This trial is being conducted at Montreal, Canada.
Who is sponsoring the NCT04802707 clinical trial?
NCT04802707 is sponsored by Kenneth Myers, MD. The principal investigator is Kenneth Alexis MD Myers, MD PhD FRCPC at RI-MUHC, Children Hospital of Montreal (MUHC), McGill University. The trial plans to enroll 200 participants.