Deoxycytidine and deoxythymidine for mitochondrial DNA depletion syndrome
Tests deoxycytidine and deoxythymidine in children with mitochondrial DNA depletion syndrome.
Key facts
- Who runs it
- Kenneth Myers, MD
- Where
- Canada1 site in 1 countryChoose a country to see its sites
- Trial code
- Registry title
- Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
- Status
- Recruiting
- Phase
- Phase 2
- People taking part
- 200 people, planned
- Started
- 18 Oct 2021
- Expected to end
- 30 Dec 2029
- Type of study
- Interventional
- Treatments tested
- deoxycytidine and deoxythymidine
- Record updated
- 19 October 2026
Who can take part
- Age
- 1 month to 60 years
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
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Who can take part
- 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
Who cannot take part
- Inability of a parent or legal guardian to give informed consent for any reason
- Chronic severe diarrhea
This trial has no sites in United States.
It has sites in one country. Choose a country to see its sites.
About the trial
What the trial wants to find out
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.
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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.
The group in the trial
- dC/dT100-400 ArmTreatment being tested
Children \& Adult (0-60 Y), who takes the investigational product deoxynucleosides pyrimidine (mix of deoxycytidine and deoxythymidine), following the protocol.
Treatment: deoxycytidine and deoxythymidine
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders
- Plain-language title
- Deoxycytidine and deoxythymidine for mitochondrial DNA depletion syndromeGenerated from the registry record. The registry title is the official one.
- Record updated
- 19 October 2026