Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
Running, not enrolling · Phase 1/Phase 2
Conditions studied: Mitochondrial DNA Depletion Syndrome 2 Myopathic Type, Thymidine Kinase 2 Deficiency
In brief
Patients with confirmed mitochondrial DNA depletion syndrome 2 (thymidine kinase 2 \[TK2\] deficiency) have reduced levels of nucleotides (deoxythymidine monophosphate and deoxycytidine monophosphate) for mitochondrial DNA synthesis. This results in mitochondrial DNA depletion syndrome (i.e less number of functional mitochondrial DNA). Patients with confirmed TK2 deficiency will be treated with open label deoxythymidine (dThd) and deoxycytidine (dCyt), which are nucleotide precursors, with the expectation that the cells could make additional mitochondrial DNA. This in turn may help reduce the clinical symptoms.
Key facts
- Study ID
- NCT03639701
- Run by
- Columbia University
- People needed
- 23
- Starts
- 2017-05-16
- Expected to finish
- 2026-12-31
- Last updated by the study team
- 2026-01-28
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Genetically confirmed diagnosis of TK2 deficiency
- Deemed by principle investigator to be symptomatic with TK2 deficiency
- Single gene disease; absence of polygenic disease
- Hematocrit within normal range for age group
- Patient or patient's guardian able to consent and comply with protocol requirements
- Presence of caregiver to ensure study compliance (if needed)
- Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
- Abstention from use of other investigational medications or other medications according to the study investigator
You may not qualify if…
- Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT)
- Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
- Renal insufficiency requiring dialysis
- Any other concurrent inborn errors of metabolism
- Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
Where it is running
- Columbia University Irving Medical Center — New York, New York, United States
Full record on ClinicalTrials.gov
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