Sepofarsen Medicine 08 December 2020 Extended indication Patients with Leber's Congenital Amaurosis aged 8 years and older Therapeutic value No estimate possible yet Total cost Registration phase Clinical trials Product Active substance Sepofarsen Domain Neurological disorders Reason of inclusion New medicine (specialité) Main indication Eye disorders Extended indication Patients with Leber's Congenital Amaurosis aged 8 years and older Current proprietary name Already available biosimilars / generics Proprietary name Manufacturer ProQR Therapeutics Portfolio holder Mechanism of action Antisense oligonucleotide Route of administration Intravitreal Therapeutical formulation Injection Budgetting framework Intermural (MSZ) Centre of expertise Oogziekenhuis Rotterdam, Radboud en AMC Additional remarks Sepofarsen is een antisense RNA oligonucletotide dat bindt aan het mRNA van het gemuteerde CEP290-gen om er voor te zorgen dat het correct wordt gespiced en er een functionaal CEP290-eiwit kan worden gemaakt. Registration Registration route Centralised (EMA) Type of trajectory Accelerated assessment Particularity New medicine with Priority Medicines (PRIME) ATMP Unknown Submission date 2021 Expected Registration 2022 Orphan drug Yes Registration phase Clinical trials Reimbursement Medicine sluice Additional remarks Primary completion datum van de fase 3 studie in december 2020. Therapeutic value Current treatment options Nog geen behandelopties buiten hulpmiddelen om beter te kunnen zien. Therapeutic value No estimate possible yet This assessment does not indicate any potential inclusion in the package. Substantiation De fase 1-2 studie (INSIGHT) is verricht met 11 patiënten waarbij er in de lagere dosering 160/80mg een statistisch significante verbetering van het zicht verkregen werd. De fase 2-3 studie (ILLUMINATE) loopt op dit moment. Duration of treatment Frequency of administration Dosage per administration References NCT03913143 (ILLUMINATE); NCT03913130 (INSIGHT) Additional remarks Initial loading dose, followed by maintenance doses at month 3 and every 6 months there after, administered by intravitreal injection (24 months duration of treatment). After 12 months treatment of the contralateral eye may be initiated. Intravitreal injection in subjects with Leber's Congenital Amaurosis (LCA) due to the CEP290 p.Cys998X mutation. Expected patient volume per year Patient volume < 11 Market share is generally not included unless otherwise stated. Maximum patient volume for sluice References Allikmets. Ophthalmic Genet. 2004 Jun;25(2):67-79.; Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis. A. den Hollander. September 2006.; Investigative Ophthalmology & Visual Science September 2018, Vol.59, 4384-4391. doi:https://doi.org/10.1167/iovs.18-24817 Additional remarks Er zijn in Nederland 34 patiënten die de specifieke intron mutatie hebben waar dit middel voor bedoeld is. Grofweg hebben 2/3 van de patiënten geen licht perceptie of maximaal licht perceptie vanaf de geboorte, deze patiënten hebben ook corticale blindheid en zullen waarschijnlijk niet voor behandeling in aanmerking komen. Hierdoor zullen er maximaal 11 patiënten in aanmerking komen. Expected cost per patient per year Cost References Additional remarks Potential total cost per year Total cost Total cost for sluice Additional remarks Off label use Off label use Unknown Indications off label use References Additional remarks Indication extension Indication extensions No Indication extensions References adisinsght Additional remarks Other information Additional remarks