Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
Status:
Enrolling by invitation
Trial end date:
2024-04-01
Target enrollment:
Participant gender:
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.
Phase:
Phase 1/Phase 2
Details
Lead Sponsor:
Columbia University
Collaborators:
Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Spain Hospital Universitario 12 de Octubre Hospitales Universitarios Virgen del Rocío Instituto de Salud Carlos III Medical Research Council Mitochondrial Biology Unit Muscular Dystrophy Association University of Seville Vall d'Hebron Research Institute