Clinician's Roundtable

• Improving Survival and Function in Pediatric TK2d with Nucleoside Therapy

  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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• Improving Survival and Function in Pediatric TK2d with Nucleoside Therapy

  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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• Understanding the Caregiver Burden in TK2 Deficiency: New Insights from a Study

  Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Philip Yeske, PhD Caring for individuals with thymidine kinase 2 (TK2) deficiency can place extraordinary demands on families, yet caregiver experiences are often overlooked in clinical care. To shed light on this burden, a mixed-methods study explored the physical, emotional, and financial impacts on caregivers. Here with Dr. Charles Turck to share the findings and how we can better support these families is Dr. Philip Yeske, the United Mitochondrial Disease Foundation Science and Alliance Officer.

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• Improving Perioperative Medication Safety with Ready-to-Administer Products

  Host: Charles Turck, PharmD, BCPS, BCCCP Guest: John B. Hertig, PharmD, MS, CPPS, FASHP, FFIP From minimizing wrong-drug and dosing errors to easing cognitive burden in the OR, ready-to-administer (RTA) medications are enhancing both safety and efficiency in anesthesiology and perioperative care. Join Dr. Charles Turck and Dr. John Hertig as they explore key medication safety challenges, compare FDA-approved versus 503B compounded products, and share strategies for effectively integrating RTA medications into clinical workflows. Dr. Hertig is a member of both the Board of Directors for the Alliance for Safe Online Pharmacies and the U.S. Food and Drug Administration Drug Safety and Risk Management Advisory Committee.

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• Uncovering the Disease Burden of Untreated Pediatric TK2 Deficiency

  Host: Charles Turck, PharmD, BCPS, BCCCP Guest: Cristina Domínguez González, MD, PhD How fast does thymidine kinase 2 deficiency (TK2d) progress without intervention? That’s the question explored by the largest dataset to date on untreated pediatric-onset TK2d, and the results reveal a median survival of just 2.6 years from symptom onset. Additionally, more than 80% lost at least one motor milestone, and many experienced escalating care needs, including ventilatory and feeding tube support. Here with Dr. Charles Turck to discuss the findings that highlight the urgent need for earlier diagnosis and intervention is Dr. Cristina Dominguez-Gonzalez, a physician in the Department of Neurology at the University Hospital 12 de Octubre in Madrid.

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