ArticleOrphanet journal of rare diseases2024
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment.Therapeutic innovation & regulatory science · 2026Pooled it
- Recommendations for the use of clinical outcome assessments in rare disease drug development.EClinicalMedicine · 2026Review
- What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.Journal of intellectual disability research : JIDR · 2026Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.Journal of neurodevelopmental disorders · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionRare genetic neurodevelopmental disorders and intellectual disability (ID), collectively called genetic ID (GID), can profoundly impact daily functioning and overall well-being of affected individuals. To improve our understanding of the impact of GID and advancing both care and research, measuring relevant patient reported outcomes (PROs) is crucial. Currently, various PROs are measured for GID. Given the shared comorbidities across disorders, we aim to develop a generic core PRO set for children and adults with GID. METHODS AND
resultsDeveloping the generic core PRO set entails the following steps: 1) providing an overview of potentially relevant PROs by scoping reviews and qualitative research; 2) integrating and conceptualizing these PROs (i.e., describing the content of the PROs in detail) into a pilot generic core PRO set; and 3) prioritizing relevant PROs by a European Delphi survey and consensus meetings.
conclusionsThis protocol presents the steps for developing a generic core PRO set for children and adults with GID. The next step involves selecting suitable patient reported outcome measures (PROMs) to adequately measure these PROs: the generic core PROM set. This generic core PROM set needs validation in the GID population, and eventually implementation in care and research, facilitating the aggregation and analysis of PRO data and guaranteeing continuous integration of the patient perspective in both care and research.
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