ArticleOrphanet journal of rare diseases2025
Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ).
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
backgroundErythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one's health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that is recommended. There is a need for reliable and valid patient-reported outcome measures (PROMs) that address all aspects of EPP/XLP, including symptoms and impacts. Our objective was to assess 2 recently developed PROMs, the Sunlight Exposure Diary and the EPP Impact Questionnaire (EPIQ), to determine their factor structure and explore their psychometric properties.
resultsDuring a clinical trial conducted from January 2023 to August 2024 evaluating an oral therapy to improve sunlight tolerance in adults, participants with EPP or XLP completed the Sunlight Exposure Diary, the EPIQ, and other PROMs (PROMIS-57 v2.1, PROMIS Short Form v2.0 - Social Isolation, and PROMIS-Neuropathic Pain Quality v2.0 scales), at multiple time points via electronic data capture. Data from all treatment groups were combined for analysis. 65 participants with a baseline and at least 1 follow-up assessment on the EPIQ were included (mean age = 45, 51% male, whole-blood metal-free PPIX levels = 9335.5 µg/L). Exploratory Factor Analysis identified 1 underlying factor in the Sunlight Exposure Diary ("Tingling/Itching") and 3 in the EPIQ ("Duration of Full Reaction," "Overall Change," and "Overall Severity and Impact"). The factor from the Sunlight Exposure Diary showed less consistent performance. A single item from the Sunlight Exposure Diary was also evaluated (the Daily Daylight Tolerance Over 2-Week Interval). The 3 factors from the EPIQ demonstrated acceptable to strong psychometric properties in terms of reliability (internal consistency, test-retest), validity (construct, known groups), and responsiveness. Ranges for meaningful change, using anchor- and distribution-based approaches, were established.
conclusionsThese PROMS address the need for EPP/XLP-specific measures that assess the duration, severity, and impact of early warning symptoms and full phototoxic reactions, and capture impacts of EPP and XLP on well-being and HRQoL. Results suggest that the PROMs are reliable and valid, supporting their use in future research and relevant for assessing the experiences of individuals with EPP or XLP.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.