Experimental pills target root cause of devastating muscle disease

NCT ID NCT03639701

Summary

This study 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 by preventing the body from making enough cellular energy. Researchers hope these supplements will help patients' cells produce more energy, potentially improving strength and slowing disease progression.

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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.