Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(18), P. 5512 - 5512

Published: Sept. 18, 2024

Inherited retinal diseases (IRDs) encompass a wide spectrum of rare conditions characterized by diverse phenotypes associated with hundreds genetic variations, often leading to progressive visual impairment and profound vision loss. Multiple natural history studies clinical trials exploring gene therapy for various IRDs are ongoing. Outcomes ophthalmic measure changes in three main categories-structural, functional, patient-focused outcomes. Since may range from congenital poor central birth affecting the peripheral retina initially progressing insidiously acuity affected late disease course, typical outcome measures such as ocular coherence tomography (OCT) imaging macula not provide adequate representation therapeutic outcomes including alterations course. Thus, alternative unique necessary assess loss vision, color night contrast sensitivity IRDs. These differences have complicated assessment IRD therapies, had design novel specialized endpoints demonstrate treatment efficacy. As engineering techniques continue advance growing investment industry accelerated approval tracks orphan conditions, must improve their assessments safety efficacy new therapies that aim come market. Here, we will an overview current approaches, review measuring function, highlight those utilized recent trials, stage 2 3 through second quarter 2024.

Language: Английский

Feasibility of disease terminology systems for mapping orphan conditions and therapeutic indications of designated orphan medicines in the European Union

European Journal of Pharmaceutical Sciences, Journal Year: 2024, Volume and Issue: 202, P. 106871 - 106871

Published: Aug. 5, 2024

In the European Union, rare diseases are defined as that affect maximum 5 in 10,000 citizens. These typically associated with a high unmet medical need. To stimulate development and authorisation of medicines for ('orphan conditions'), Commission (EC) can grant orphan designations. order to enable systematic evaluation communication which designated have (not) been developed authorised, we aimed investigate feasibility important disease terminology systems mapping conditions therapeutic indications.

Language: Английский