E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated | X-Linked Retinitis Pigmentosa caused by mutations in the RPGR gene | Retinitis pigmentosa ligada al cromosoma X causada por mutaciones en el gen RPGR | |
E.1.1.1 | Medical condition in easily understood language | Progressive reduction in vision, starting with night blindness and progressing to visual field constriction, caused by mutations on Chromosome X (RPGR gene). | Reducción progresiva de la visión, comenzando con ceguera nocturna y progreso a restricción del campo visual, causado por mutaciones en el cormosoma X (gen RPGR) | |
E.1.1.2 | Therapeutic area | Diseases [C] - Eye Diseases [C11] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.0 | E.1.2 | Level | PT | E.1.2 | Classification code | 10038914 | E.1.2 | Term | Retinitis pigmentosa | E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders | |
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial | To assess the effect of bilateral treatment with AAV5-hRKp.RPGR on retinal function as measured by static perimetry. | Evaluar la eficacia del tratamiento bilateral con AAV5-hRKp.RPGR en la función retiniana de acuerdo con medición mediante perimetría estática | |
E.2.2 | Secondary objectives of the trial | To assess changes after treatment administration in retinal function, functional vision, visual function and to assess the safety and tolerability of bilateral subretinal delivery of AAV5-hRKp.RPGR | Evaluar los cambios después de la administración del tratamiento en función retiniana, visión funcional, función visual y evaluar la seguridad y tolerabilidad de la administración subretiniana bilateral de AAV5-hRKp.RPGR | |
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria | 1. Male or female. 2. 3 years of age or older. 3. Has XLRP confirmed by a retinal specialist and has a predicted disease-causing sequence variant in RPGR confirmed by a sponsor-approved laboratory. | 1. Ser hombre o mujer. 2. Tener 3 o más años de edad. 3. Tener XLRP confirmada por un especialista en retinas y tener una variante de secuencia que se predice que causa la enfermedad en el gen RPGR confirmada por un laboratorio aprobado por el promotor. | |
E.4 | Principal exclusion criteria | 1. Has had ocular surgery within 3 months prior to screening or is anticipated to require ocular surgery within 6 months after the study intervention administration. 2. Any investigational ocular treatment or any other ocular treatment that could confound the interpretation of the efficacy results or affect participant compliance with the visit schedule. 3. Has undergone prior retinal surgery involving the macula, vitrectomy, macular laser photocoagulation, external-beam radiation therapy, transpupillary thermotherapy, glaucoma filtration surgery or corneal surgery (except cataract surgery). 4. History of an ocular implant, with the exception of an intraocular lens. | 1. Se le ha realizado una cirugía ocular dentro de los 3 meses previos a la selección o se prevé que necesite cirugía ocular dentro de los 6 meses posteriores a la administración de la intervención del estudio. 2. Cualquier tratamiento ocular experimental o cualquier otro tratamiento ocular que pudiera confundir la interpretación de los resultados de eficacia o afectar el cumplimiento del participante con el calendario de visitas. 3. Se ha sometido a una cirugía de retina previa que afecta la mácula, vitectromía, fotocoagulación macular con láser, radioterapia de haz externo, termoterapia transpupilar, cirugía de filtración de glaucoma o cirugía de córnea (excepto la cirugía de cataratas). 4. Antecedentes de implante ocular, con la excepción de una lente intraocular. | |
E.5 End points |
E.5.1 | Primary end point(s) | Change in retinal sensitivity by pointwise comparison of individual loci in a 185-point customized grid at Week 52. | Cambio en la sensibilidad retiniana mediante comparación puntual de loci individuales en una cuadrícula personalizada de 185 puntos en la semana 52 | |
E.5.1.1 | Timepoint(s) of evaluation of this end point | Baseline to week 52 | Desde el valor de referencia a la semana 52 | |
E.5.2 | Secondary end point(s) | •Retinal Function assessed by Static perimetry: V30 from VFMA modeling Average threshold by microperimetry, under mesopic condition •Functional Vision assessed by Visual mobility assessment. Impact of Vision Impairment on Adults (IVI-A) - Reading and Accessing Information domain score – for adults (age 18 years and older) •Visual Function assessed by Low luminance BCVA by ETDRS chart letter score Contrast sensitivity by Pelli-Robson chart in LogMAR | • Función retiniana evaluada por V30 mediante el modelado V VFMA, umbral promedio de microperimetría en condiciones mesópicas • Visión funcional evaluada por evaluación de movilidad visual. Impacto de la insuficiencia visual en adultos (IVI-A)- Puntuación del dominio lectura y acceso a la información - para adultos (mayores de 18 años) • Función visual evaluada por Baja luminancia BCVA según la puntuación de las letras del gráfico ETDRS Sensibilidad al contraste según la gráfica de Pelli-Robson en LogMAR | |
E.5.2.1 | Timepoint(s) of evaluation of this end point | Baseline to week 52 | Desde el valor de referencia a la semana 52 | |
E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | Yes |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | Yes |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | Yes |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | Yes |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | Yes |
E.8.1.7.1 | Other trial design description | Evaluadores de la visión a ser enmascarados para la asignación de tratamiento | Vision assessors to be masked to treatment assignment | |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | Yes |
E.8.2.3.1 | Comparator description | Ningún tratamiento (tratamiento aplazado para el grupo control) | No treatment (Deferred treatment for control group). | |
E.8.2.4 | Number of treatment arms in the trial | 2 |
E.8.3 | The trial involves single site in the Member State concerned | No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 1 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 14 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned | Canada | Israel | United States | Belgium | Denmark | France | Germany | Ireland | Italy | Netherlands | Spain | Switzerland | United Kingdom | |
E.8.7 | Trial has a data monitoring committee | No |
E.8.8 | Definition of the end of the trial and justification where it is not the last visit of the last subject undergoing the trial | LVLS | Última visita del último paciente | |
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 1 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 1 |
E.8.9.2 | In all countries concerned by the trial months | 9 |
E.8.9.2 | In all countries concerned by the trial days | 0 |