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

Kavin Selvan^{1

2

3}, Maria F Abalem^{4

5}, Gabrielle D Lacy⁴, Ajoy Vincent^{1

2

3}, Elise Héon^{6

7

8}

Affiliations

¹ Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
² Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
³ Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
⁴ Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.
⁵ Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical School, Sao Paulo, Sao Paulo, Brazil.
⁶ Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. elise.heon@sickkids.ca.
⁷ Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca.
⁸ Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca.

PMID: 35499804
PMCID: PMC9114271
DOI: 10.1007/s40123-022-00514-x

Review

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

Kavin Selvan et al. Ophthalmol Ther. 2022 Jun.

. 2022 Jun;11(3):1031-1046.

doi: 10.1007/s40123-022-00514-x. Epub 2022 Apr 30.

Authors

Kavin Selvan^{1

2

3}, Maria F Abalem^{4

5}, Gabrielle D Lacy⁴, Ajoy Vincent^{1

2

3}, Elise Héon^{6

7

8}

Affiliations

¹ Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
² Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
³ Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
⁴ Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.
⁵ Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical School, Sao Paulo, Sao Paulo, Brazil.
⁶ Genetics and Genome Biology (GGB) Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada. elise.heon@sickkids.ca.
⁷ Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca.
⁸ Institute of Medical Science, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada. elise.heon@sickkids.ca.

PMID: 35499804
PMCID: PMC9114271
DOI: 10.1007/s40123-022-00514-x

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.

Keywords: Clinical trial; Genetic therapy; Ophthalmology; Patient-reported outcome; Pediatrics; Retinal diseases; Vision impairment.

Plain language summary

Inherited retinal diseases refer to a group of genetic conditions that affect the eye’s light-sensing cells and lead to vision loss. When a patient undergoes an eye assessment, the measures used are technical (e.g., visual acuity, visual field) and do not routinely address the patient’s experience. It is increasingly evident that the technical tools used do not really reflect how patients’ vision affects their daily lives. Questionnaires designed to assess how a condition impacts a daily activity are referred to as patient-reported outcome measures. The perspective of the impact of a condition on daily activities differs between adults and children. These tools are being created to evaluate health outcomes important to the patient on the basis of their condition and age. This is especially important when determining the value of therapies from the patient perspective. To date, no such questionnaire has been designed for pediatric patients with inherited retinal disease, an important cause of blindness. We explored the literature to evaluate existing pediatric vision tools and found that those could not be used to fill this gap. Given that we found a need to develop questionnaires tailored to pediatric patients with IRD, we also provide insight into how such a tool can be created for this population.

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**Fig. 1**
Flow diagram of literature screening

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References

1. Gong J, Cheung S, Fasso-Opie A, et al. The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective. Clin Ophthalmol. 2021;15:2855–2866. doi: 10.2147/OPTH.S313719. - DOI - PMC - PubMed
1. Heon E, Koenekoop R. Treatments for inherited retinal degenerations are coming to Canada: brief update on a new standard of care for inherited retinal degenerations. Can J Ophthalmol. 2021;56:e34–e35. doi: 10.1016/j.jcjo.2020.10.019. - DOI - PubMed
1. US Department of Health and Human Services FDA Center for Drug Evaluation and Research, US Department of Health and Human Services FDA Center for Biologics Evaluation and Research, US Department of Health and Human Services FDA Center for Devices and Radiological Health. Guidance for industry: patient-reported outcome measures: use in medical product development to support labeling claims: draft guidance. Health Qual Life Outcomes. 2006;4:79. 10.1186/1477-7525-4-79. - PMC - PubMed
1. Patrick DL, Burke LB, Powers JH, et al. Patient-reported outcomes to support medical product labeling claims: FDA perspective. Value Health. 2007;10:S125–S137. doi: 10.1111/j.1524-4733.2007.00275.x. - DOI - PubMed
1. Lacy GD, Abalem MF, Musch DC, et al. Patient-reported outcome measures in inherited retinal degeneration gene therapy trials. Ophthalmic Genet. 2020;41:1–6. doi: 10.1080/13816810.2020.1731836. - DOI - PMC - PubMed

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

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

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