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.
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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
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Columbia University Irving Medical Center
New York, New York, 10032, United States
More trials for these conditions
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