New drug cocktail shows promise for rare muscle disease

NCT ID NCT03845712

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This phase 2 study tests a combination of two nucleoside drugs, doxecitine and doxribtimine, in 47 people with thymidine kinase 2 (TK2) deficiency, a rare genetic disorder that weakens muscles. Participants already receiving nucleoside therapy continue treatment to see if the drug is safe and helps improve their condition. The study is open-label, meaning everyone knows they are getting the active treatment.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance

doxecitine and doxribtimine (nucleoside combination)

What this could lead to

If successful, this could provide a safe and effective treatment option to manage TK2 deficiency, a rare genetic disease that affects muscle function.

What could go wrong

This is a small, early-phase study with no placebo group, so results may not be conclusive. Side effects are possible, and the treatment may not work for everyone.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

inborn mitochondrial metabolism disorder mitochondrial DNA depletion syndrome, myopathic form Muscle Weakness muscular atrophy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Tk0102 1005

    New York, New York, 10032, United States

  • Tk0102 3031

    Madrid, Spain

  • Tk0102 3101

    Seville, Spain

  • Tk0102 3102

    Barcelona, Spain

  • Tk0102 3121

    Esplugues de Llobregat, Spain

  • Tk0102 4037

    Nehariya, Israel

  • Tk0102 4038

    Haifa, Israel

  • Tk0102 4039

    Holon, Israel