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Experimental pills target devastating Muscle-Wasting disease in children and adults

NCT ID NCT03639701

Summary

This clinical trial is testing whether two oral supplements (deoxythymidine and deoxycytidine) can help people with a rare genetic disorder called TK2 deficiency. TK2 deficiency causes severe muscle weakness, walking difficulties, and fatigue by reducing the body's cellular energy production. The study aims to see if these supplements can boost energy production and improve symptoms in 23 participants with confirmed genetic mutations.

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Contacts and locations

Locations

  • Columbia University Irving Medical Center

    New York, New York, 10032, United States

Conditions

Explore the condition pages connected to this study.