Doxecitine / doxiribtimine Medicine 07 June 2022 Extended indication Indicated for the treatment of paediatric and adult patients with thymidine kinase 2 deficiency (TK2d) with an age of symptom onset on or before 12 years. Therapeutic value No estimate possible yet Total cost Registration phase Registration application pending Product Active substance Doxecitine / doxiribtimine Domain Neurological disorders Reason of inclusion New medicine (specialité) Main indication Muscular diseases other Extended indication Indicated for the treatment of paediatric and adult patients with thymidine kinase 2 deficiency (TK2d) with an age of symptom onset on or before 12 years. Current proprietary name Already available biosimilars / generics Proprietary name Manufacturer UCB Portfolio holder UCB Mechanism of action Other Route of administration Oral Therapeutical formulation Oral powder Budgetting framework Extramural (GVS) Centre of expertise Radboud UMC Additional remarks Werkingsmechanisme: 'restoring mitochondrial DNA (mtDNA) replication fidelity' (bron UCB pijplijn). Registration Registration route Centralised (EMA) Type of trajectory Normal trajectory Particularity New medicine with Priority Medicines (PRIME) ATMP No Submission date December 2024 Expected Registration February 2026 Orphan drug Yes Registration phase Registration application pending Reimbursement Medicine sluice Additional remarks Ultra weesgeneesmiddel. Verwachte registratie op basis van IHSI-inschatting. Therapeutic value Current treatment options Beste ondersteunende zorg Therapeutic value No estimate possible yet This assessment does not indicate any potential inclusion in the package. Substantiation Momenteel zijn er alleen open label studies gaande wat het lastig maakt om een goede therapeutische waarde in te schatten. Duration of treatment Frequency of administration 3 times a day Dosage per administration Start dosering: 260mg/kg/dag tot maximaal 800mg/kg/dag References NCT04581733 / NCT05017818 / NCT03701568 / NCT06590493. UCB data on file Additional remarks Expected patient volume per year Patient volume 1 - 10 Market share is generally not included unless otherwise stated. Maximum patient volume for sluice References TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form. Julia Wang. 2012 (1); Expertopinie (2); Fabrikant (3). Additional remarks Een zeer zeldzame ziekte, 107 gevallen bekend wereldwijd (1). In Nederland is de inschatting dat er maximaal 10 patiënten zouden kunnen zijn maar waarschijnlijk minder (2). Voor zover bekend is er één patiënt in Nederland (3). Expected cost per patient per year Cost References Additional remarks onbekend Potential total cost per year Total cost Total cost for sluice Additional remarks onbekend Off label use Off label use Unknown Indications off label use References Additional remarks Indication extension Indication extensions No Indication extensions References Additional remarks Other information Additional remarks