Status:
RECRUITING
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Lead Sponsor:
Kenneth Myers, MD
Conditions:
Mitochondrial Diseases
Mitochondrial Encephalomyopathy
Eligibility:
All Genders
1-60 years
Phase:
PHASE2
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 ...
Detailed Description
This Trial is designed as Phase II, Monocenter, Open label study in the pediatric population. The aim is to evaluate the safety, tolerability and efficacy of Deoxycytidine and Deoxythymidine in treat...
Eligibility Criteria
Inclusion
- 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
- Inability of a parent or legal guardian to give informed consent for any reason
- Chronic severe diarrhea
Key Trial Info
Start Date :
October 18 2021
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 30 2029
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT04802707
Start Date
October 18 2021
End Date
December 30 2029
Last Update
May 31 2025
Active Locations (1)
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1
Research InstituMcGill University Health Centre - Children Hospital of Montreal
Montreal, Quebec, Canada, H4A 3J1