The State of Patient-Reported Outcome Measures for Pediatric Patients with Inherited Retinal Disease

Abstract

Patient-reported outcome measures (PROMs) are questionnaires that assess health outcomes meaningful to the patient. PROMs have multiple applications, such as supporting clinicians’ decision-making for patient care, understanding the impact of disease on patient functioning, and evaluating the efficacy of therapeutics. Though PROMs were developed for various eye conditions, no PROM was tailored to pediatric patients with inherited retinal disease (IRD). Hence, a literature search was conducted using MEDLINE and Embase to identify PROMs potentially relevant to this patient population. This review evaluated selected pediatric PROMs against the US Food and Drug Administration (FDA) guidelines and found restricted use in the context of IRD. As there is a need for PROMs tailored to pediatric patients with IRD, we provide a perspective on applying the International Society for Pharmacoeconomics and Outcomes Research and FDA standards on the development of PROMs specific to IRD. Supplementary Information The online version contains supplementary material available at 10.1007/s40123-022-00514-x.

Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study

“…At the time of assessment, the NEI VFQ‐25 was widely used in ophthalmological clinical trials and accepted by the regulatory authorities as a means to evaluate vision‐related quality of life. However, as the flaws of the NEI VFQ‐25 questionnaire become more apparent and IRD research advances towards clinical applications, experts agree on the need for a specific IRD questionnaire that can evaluate meaningful changes for a patient (Lacy et al, 2020; Prem Senthil et al, 2017; Selvan et al, 2022). A few PROMs have been developed for specific IRDs, such as Stargardt macular dystrophy and congenital stationary night blindness, but these tools have not been validated and are of limited use in larger IRD populations (Bijveld et al, 2013; Miedziak et al, 2000).…”

Therapeutic landscape for inherited ocular diseases: current and emerging therapies

“…To accurately assess the impact of IRD and the effect of therapy on the paediatric cohort, paediatric-specific PROMs applying the appropriate language and relevant experience are required. [ 41 ]…”