Extended indication Patients with Leber's Congenital Amaurosis aged 8 years and older
Therapeutic value No judgement
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
Manufacturer ProQR Therapeutics
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 comments 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)
Submission date 2021
Expected Registration 2022
Orphan drug Yes
Registration phase Clinical trials
Additional comments 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 judgement
Substantiation De fase 1/2 studie (INSIGHT) is verricht met 11 patiënten waarbij er in de lagere dosering 160/80 microgram een statistisch significante verbetering van het zicht verkregen werd. De fase 2/3 studie (ILLUMINATE) loopt op dit moment.
Duration of treatment Average year / years
References NCT03913143 (ILLUMINATE); NCT03913130 (INSIGHT)
Additional comments 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.

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 comments 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

There is currently nothing known about the expected cost.

Potential total cost per year

There is currently nothing known about the possible total cost.

Off label use

There is currently nothing known about off label use.

Indication extension

Indication extension No
References adisinsght

Other information

There is currently no futher information available.