A RETROspective Study of Patients With TK2d

Completed

Conditions studied: Thymidine Kinase 2 (TK2)

In brief

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.

Key facts

Study ID

NCT03701568

Run by

Zogenix MDS, Inc.

People needed

38

Starts

2018-11-19

Expected to finish

2019-05-31

Last updated by the study team

2023-09-01

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Signed informed consent by the patient or parent(s)/legally authorized representative (LAR) and/or assent by the patient (when applicable), unless the associated institutional review board (IRB) or ethics committee (EC) provides an appropriate consent waiver
• Confirmed genetic mutation in the TK2 gene
• Availability of medical records for each patient from the time of onset of symptoms
• Patient has taken pyrimidine nucleos(t)ides (dCMP/dTMP and/or dC/dT) as substrate enhancement therapy for TK2 deficiency
• Most recent patient visit at which efficacy and/or safety parameters were collected occurred between 01 June 2018 and 15 December 2018

You may not qualify if…

• Presence of other genetic disease or polygenic disease

Where it is running

• Columbia University Medical Center — New York, New York, United States
• Rambam Hospital — Haifa, Israel
• Wolfson Medical Center — Holon, Israel
• Western Galilee Hospital — Nahariya, Israel
• Hospital Vall d'Hebron — Barcelona, Spain
• Sant Joan de Déu Hospital — Barcelona, Spain
• Hospital 12 de Octubre — Madrid, Spain
• Hospital Universitario Virgen del Rocio — Seville, Spain

Full record on ClinicalTrials.gov

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