ArticleOrphanet journal of rare diseases2025
The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.
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. Cited by 1 paper.
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
1 citing paper in PubMed.
- Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria.Molecular genetics and metabolism reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn the process of guideline development, expert opinion is introduced when there is low-quality or no scientific evidence available. During the first revision of the European phenylketonuria guidelines, the limited data regarding adult treatment targets was interpreted and weighted in different ways by different professionals. In this study, we have recorded and analyzed personal experience and views that may affect decisions.
methodsA web-based questionnaire was sent to all panelists involved in the revision of the guidelines (n = 23), evaluating demographics, opinion about treatment targets, interpretation of scientific data and general views to establish adult specific treatment guidelines.
results19 panelists responded. Most acknowledged the importance of maintaining metabolic control even in adulthood with target levels in line with previous recommendations, but that dietary treatment is a limiting factor for social life. 68% preferred the risk of over-treatment rather than undertreatment. The great majority considered cognitive, behavioral and wellbeing measures to be critical to measure treatment success. 58% considered significant group differences of 1 SD or less in neuropsychological tasks to be clinically significant.
conclusionResults highlight differences in expert opinions and the importance of making them more transparent to reach less-biased recommendations.
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.