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New hope for rare genetic disease: expanded access opens

NCT ID NCT06590493

First seen Nov 01, 2025 · Last updated May 22, 2026 · Updated 25 times

Summary

This program provides access to two experimental drugs, doxecitine and doxribtimine, for people with thymine kinase 2 deficiency (TK2d), a rare genetic disorder that can cause severe muscle weakness and breathing problems. It is for children and adults with confirmed TK2d who are at risk of major disability or death. The goal is to offer treatment to those who cannot join a clinical trial.

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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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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.