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Improving Survival and Function in Pediatric TK2d with Nucleoside Therapy episode artwork

Nov 19, 2025 9 min

Improving Survival and Function in Pediatric TK2d with Nucleoside Therapy

from Clinician's Roundtable

Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Caterina Garone, MD, PhD What if a rare, progressive neuromuscular disease like thymidine kinase 2 deficiency (TK2d) could not only be stabilized, but partially reversed? Based on findings from a pooled analysis of pediatric patients, pyrimidine nucleoside or nucleotide therapy reduced mortality risk up to 95%, with nearly 75% of patients regaining at least one motor milestone. Joining Dr. Charles Turck to explore these survival and functional outcomes is Dr. Caterina Garone, Associate Professor of Medical Genetics in the Department of Medical and Surgical Sciences at the Alma Mater Studiorum University of Bologna in Italy.

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