Symposium: What’s new in TK2d?

From early recognition to advances in disease management, what’s new in TK2d?

Gain expert insights into diagnosing and treating TK2d in pediatric patients.

View transcript.

Chapters

01:42 Background on TK2d
04:57 The natural course of TK2d
18:39 Current status of TK2d management
33:09 Applying research to real-world care
44:02 Take-home messages
44:50 Q&A

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“An increased awareness of the disease is critical for patient identification.” Watch this symposium, delivered at the European Paediatric Neurology Society’s (EPNS) Congress 2025, to gain the latest expert insights into the diagnosis and management of thymidine kinase 2 deficiency (TK2d) in pediatric patients. Join a panel of international experts – Cristina Domínguez González (Spain), Caterina Garone (Italy), and Michio Hirano (USA) – as they explore early detection, emerging therapies, and clinical application.

Hear about:

• How to recognize signs and symptoms of TK2d
• The importance of genetic testing for early detection
• Current standard of care and results from clinical trials in the management of TK2d

Meet the experts

Cristina Domínguez González, MD, PhD

Cristina Domínguez González leads multidisciplinary clinical and research groups at the Hospital 12 de Octubre in Madrid, Spain.

Domínguez González's area of expertise lies in genetic myopathies, with a particular focus on those originating from metabolic and mitochondrial factors.

Disclosures: Consulting fees from Amicus Therapeutics, Exeltis, Italfarmaco, Modis Therapeutics, Pharmanext, Roche, Sarepta, Sanofi–Genzyme, UCB Pharma, and Zogenix. Research funding from Pretzel Therapeutics and UCB Pharma. Honoria from Amicus Therapeutics, Roche, Sanofi–Genzyme, and UCB Pharma.

Caterina Garone, MD, PhD

Caterina Garone is Associate Professor of Medical Genetics at Alma Mater Studiorum, University of Bologna, Italy, and a pediatric neurologist at UOC Neuropsichiatria dell'Età Pediatrica, S. Orsola Hospital.

Garone specializes in clinical and translational research on metabolic disorders, mitochondrial diseases, neuromuscular diseases, and human genetics, with a particular focus as a neurogeneticist.

Disclosures: Serves on an advisory board of UCB Pharma. Received funding from UCB Pharma for research projects relating to TK2d.

Michio Hirano, MD

Michio Hirano is Chief of the Neuromuscular Medicine Division at Columbia University Irving Medical Center (CUIMC), New York, USA. Hirano also serves as the Director of the CUIMC Muscular Dystrophy Association Care Center, and the Director of the H. Houston Merritt Center for Neuromuscular and Mitochondrial Disorders.

Hirano's research focuses primarily on mitochondrial diseases and genetic myopathies. Hirano is actively involved in translational neuromuscular disease research in the laboratory and in clinical trials.

Disclosures: American Academy of Neurology, Apollo Communication, Astellas, Barth Syndrome Foundation, Cure SMA, Cyclerion, Envision Communications, Muscular Dystrophy Association, NIH (National Institutes of Health), Precision Biosciences, Reneo Pharmaceuticals, UCB Biopharma SRL, and United Mitochondrial Disease Foundation.