Treatment of TK2 Deficiency With Thymidine and Deoxycytidine (NCT03639701) | Clinical Trial Compass
Active — Not RecruitingPhase 1/2
Treatment of TK2 Deficiency With Thymidine and Deoxycytidine
United States23 participantsStarted 2017-05-16
Plain-language 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.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Genetically confirmed diagnosis of TK2 deficiency
* Deemed by principle investigator to be symptomatic with TK2 deficiency
* Single gene disease; absence of polygenic disease
* Hematocrit within normal range for age group
* Patient or patient's guardian able to consent and comply with protocol requirements
* Presence of caregiver to ensure study compliance (if needed)
* Abstention from use of all pill-form dietary supplements and non-prescribed medications (except as allowed by the investigator)
* Abstention from use of other investigational medications or other medications according to the study investigator
Exclusion Criteria:
* Clinical history of bleeding or abnormal prothrombin time (PT)/partial thromboplastin time (PTT)
* Hepatic insufficiency with liver function tests (LFTs) greater than two times normal
* Renal insufficiency requiring dialysis
* Any other concurrent inborn errors of metabolism
* Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.