Hope for rare muscle disease: experimental treatment trial advances

NCT ID NCT03845712

Summary

This study continues testing an experimental combination therapy (doxecitine and doxribtimine) in people with thymidine kinase 2 deficiency, a rare genetic disorder that causes muscle weakness and breathing problems. The research aims to see if long-term treatment is safe and whether it helps maintain or improve muscle function, breathing, and quality of life. It includes 47 participants who were already receiving similar treatments in a previous study.

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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

Conditions

Explore the condition pages connected to this study.