MedTrace Logo

Treatment of TK2 Deficiency With Thymidine and Deoxycytidine

NCT03639701 · Status: ACTIVE_NOT_RECRUITING · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 23

Last updated 2026-01-28

No results posted yet for this study

Summary

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.

Conditions

  • Mitochondrial DNA Depletion Syndrome 2 Myopathic Type
  • Thymidine Kinase 2 Deficiency

Interventions

DRUG

Thymidine

Mitochondrial DNA nucleotide precursors. Dose escalation: 130mg/kg/day x 14 days, 260 mg/kg/day x 14 days, and 400mg/kg/day as tolerated. Compounds are taken orally and divided into 3 doses daily.

Sponsors & Collaborators

  • Muscular Dystrophy Association

    collaborator OTHER

  • Hospital Universitario 12 de Octubre

    collaborator OTHER

  • Instituto de Salud Carlos III

    collaborator OTHER_GOV

  • University of Seville

    collaborator OTHER

  • Medical Research Council Mitochondrial Biology Unit

    collaborator UNKNOWN

  • Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Spain

    collaborator UNKNOWN

  • Hospitales Universitarios Virgen del Rocío

    collaborator OTHER

  • Universitat Autonoma de Barcelona

    collaborator OTHER

  • Columbia University

    lead OTHER

Principal Investigators

  • Michio Hirano, MD · Columbia University

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-05-16
Primary Completion
2026-12-31
Completion
2026-12-31
FDA Drug
Yes

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03639701 on ClinicalTrials.gov