Nucleotide Precursors for TK2 Deficiency

Recruiting in Palo Alto (17 mi)

+2 other locations

Overseen byMichio Hirano, MD

Age: Any Age

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1 & 2

Waitlist Available

Sponsor: Columbia University

No Placebo Group

Trial Summary

What is the purpose of this trial?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.

Eligibility Criteria

This trial is for patients with genetically confirmed TK2 deficiency, a condition affecting mitochondrial DNA. Participants must not be taking other investigational drugs or certain supplements and should have normal blood counts. They need to consent to the study rules and may require a caregiver's help to follow the protocol.

Inclusion Criteria

I do not take any pill-form dietary supplements or non-prescribed medications.

Abstention from use of other investigational medications or other medications according to the study investigator

My condition is genetically confirmed TK2 deficiency.

+5 more

Exclusion Criteria

I require dialysis for kidney failure.

My liver tests are more than twice the normal levels.

I have a history of bleeding or abnormal blood clotting times.

+2 more

Participant Groups

The trial tests whether giving patients with TK2 deficiency two substances, deoxythymidine (dThd) and deoxycytidine (dCyt), can increase their mitochondrial DNA levels and improve symptoms. It's an open-label study, meaning everyone knows what treatment they're getting.

1Treatment groups

Experimental Treatment

Group I: Open label thymidine and deoxycytidineExperimental Treatment1 Intervention

All patients will receive open label thymidine and deoxycytidine