Experimental treatment aims to boost mitochondrial DNA in rare disease
NCT ID NCT03639701
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study tests two natural substances, deoxythymidine and deoxycytidine, in people with TK2 deficiency, a rare genetic condition that causes muscle weakness and breathing problems. The goal is to see if these nucleotide precursors can help cells make more mitochondrial DNA and reduce symptoms. The trial involves 23 participants and is currently active but not recruiting.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- deoxythymidine and deoxycytidine (nucleotide precursors)
- What this could lead to
- If it works, this could provide a treatment that helps cells make more mitochondrial DNA, potentially slowing or improving symptoms of TK2 deficiency.
- What could go wrong
- This is an early-phase trial with only 23 participants, so results may not apply to everyone. The treatment may cause side effects like liver enzyme elevations or diarrhea.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
-
Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
-
23 people
The number who actually took part.
- Started
-
May 2017
- Expected to finish
-
Dec 2026
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
Columbia University Irving Medical Center
New York, New York, 10032, United States
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