The main criteria for participation
This international trial is recruiting, particularly in France, patients of all ages with thymidine kinase 2 (TK2d) deficiency, who have a progressive disease and/or whose first symptoms appeared at the age of 12 at the latest.
The objective
This expanded access program aims to evaluate the effectiveness and possible side effects of the treatment.
In practice
In France, the treatment is prescribed under a compassionate access authorisation. For each patient, the doctor checks that the first symptoms of the disease occurred at or before the age of 12. Once authorisation has been obtained from the French National Agency for the Safety of Medicines (ANSM), the patient takes the drug – a powder to be diluted – orally every day, or through a feeding tube if enteral nutrition is required. Treatment continues for as long as the doctor considers that the benefits for the patient outweigh the side effects.
Where are we?
Recruitment is underway in several French centers.
On Novembre 3, 2025, the FDA approved this treatment (see news).
Contact
Professor Isabelle Desguerre (Necker-Enfants Malades Hospital, Paris)
Tel. : 01 44 49 41 42