NCT03701568

A RETROspective Study of Patients With TK2d

A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 38 (actual)
• Sponsor: Zogenix MDS, Inc. · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

This is a medical chart review study to collect information for patients who have been taking pyrimidine nucleosides for treatment of TK2 deficiency. Information from the time of onset of symptoms will be collected to describe the pre treatment course of TK2 deficiency.

Detailed description

Data to be collected from the time of onset of symptoms related to TK2 deficiency includes medical conditions and/or adverse events (AEs); these should include relationship to TK2 disease and/or pyrimidine nucleosides, as appropriate, as well as date of onset and severity, when available. When available, test reports may be obtained as well as available research biological samples (eg, blood or tissue samples that may be tested for biomarkers of disease and/or effects of medications to treat the mitochondrial disease).

Conditions

• Thymidine Kinase 2 (TK2)

Interventions

Type	Name	Description
DRUG	dC/dT	Collection of retrospective data from TK2 patients previously treated with dC/dT

Timeline

• Start date: 2018-11-19
• Primary completion: 2019-04-30
• Completion: 2019-05-31
• First posted: 2018-10-10
• Last updated: 2023-09-01

Locations

8 sites across 3 countries: United States, Israel, Spain