CompletedNot Applicable

A RETROspective Study of Patients With TK2d

United States, Israel, Spain38 participantsStarted 2018-11-19

Plain-language 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.

Who can participate

SexALL

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Inclusion criteria

✓. 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

What they're measuring

Diagnosis

Timeframe: 3 months

Trial details

NCT IDNCT03701568

SponsorZogenix MDS, Inc.

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2019-04-30

View on ClinicalTrials.gov More Thymidine Kinase 2 (TK2) trials