The burden of X-linked retinitis pigmentosa (XLRP) on patient experience and patient-reported outcomes (PROs): findings from the EXPLORE XLRP-2 study.

Background/aims: X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa (RP), accounting for 5-15% of all RP cases and primarily affecting males. However, the real-world humanistic impacts of this disease on patients are poorly investigated, especially with respect to burdens faced by patients with varying disease severities.

Methods: EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study.

Economic Burden of Late-Stage Age-Related Macular Degeneration in Bulgaria, Germany, and the US.

Importance: Age-related macular degeneration (AMD) is a highly prevalent and debilitating retinal condition that affects more than 200 million people globally, with the severe late-stage forms-neovascular AMD (nAMD) and geographic atrophy (GA)-affecting more than 11 million people globally. However, much is unknown about the economic burden of the disease.

Objective: To estimate the economic burden associated with late-stage AMD in Bulgaria, Germany, and the US at the societal level.

The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe.

Purpose: To map the existing genomic services available for patients with IRDs across Europe.

Methods: A survey was conducted to 24 ophthalmic and/or genetic specialists across 19 European countries. The survey was conducted in an interview style via zoom for participants from 17 out of 19 countries.

Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey.

Introduction: Obtaining a genetic diagnosis via genetic testing (GT) is a fundamental step in determining the eligibility of a patient to be enrolled in emerging clinical trials and research studies. Besides, the knowledge of genetic outcome allows patients to plan for significant life choices. However, critical barriers exist to an equitable access to genetic services globally.

The Impact of Inherited Retinal Diseases in the United States of America (US) and Canada from a Cost-of-Illness Perspective.

Objective: To estimate the annual cost of inherited retinal diseases (IRDs) in the United States of America (US) and Canada from a societal perspective - including costs to the health system, individual and family productivity costs, lost wellbeing and other societal economic costs - by setting and payer. Findings will inform the need for policy action to mitigate the impact of IRDs.

Methods: The costs of IRDs were estimated using a cost-of-illness methodology, based on the prevalence of IRDs in each country.

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership.

The Impact of Inherited Retinal Diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a Cost-of-Illness Perspective.

To date, there has been a global lack of data regarding the prevalence of conditions falling under the Inherited Retinal Diseases (IRD) classification, the impact on the individuals and families affected, and the cost burden to economies. The absence of an international patient registry, and equitable access to genetic testing, compounds this matter. The resulting incomplete knowledge of the impact of IRDs hinders the development and commissioning of clinical services, provision of treatments, and planning and implementation of clinical trials.