A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

Zogenix

Status: Completed

Conditions: Thymidine Kinase 2 Deficiency

Treatments: Other: Observational retrospective data

Study type: Observational

Funder types: Industry

Identifiers

NCT05017818

MT-1621-107

Details and patient eligibility

About

This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).

Full description

This is a retrospective, chart-review study. The primary goal is to use data on survival and other related information to support a comprehensive evaluation of patients with Thymidine Kinase 2 deficiency (TK2d) who have not been treated with pyrimidine nucleos(t)ides including deoxycytidine monophosphate/deoxythymidine monophosphase (dCMP/dTMP), and deoxycytidine/deoxythymidine (dC/dT), and/or MT1621(dC/dT), and those that have received one or more of these treatments. The secondary goals of this study will focus on describing the participant's clinical course and treatment experience.

Enrollment: 61 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Signed informed consent by the subject or parent(s)/LAR and/or assent by the subject (when applicable), unless the associated IRB or EC provides an appropriate consent waiver that allows review of medical records for this study.
2. Confirmed genetic mutations in the TK2 gene.
3. Availability of medical records or information pertaining to vital status at a minimum.

Exclusion criteria

Not applicable as this is a non-interventional study.

Trial design

61 participants in 1 patient group

Treated and untreated subjects with TK2 deficiency

Description:

Two TK2 deficiency groups. (1) Subjects treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study. (2) Subjects not treated with chemical-grade dCMP/dTMP, dC/dT, and/or MT1621 outside of a Modis sponsored study.

Treatment:

Other: Observational retrospective data