ArticleOrphanet journal of rare diseases2022
Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 3 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 3 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
- Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.Orphanet journal of rare diseases · 2026Pooled it
- Patient-reported outcomes in Gaucher's disease: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025Review
- MyGauchmHealth · 2025Article
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 2024Article
- Development and evaluation of a patient-reported outcome measure specific for Gaucher disease with or without neurological symptoms in Japan.Orphanet journal of rare diseases · 2024Article
- Real life data: follow-up assessment on Spanish Gaucher disease patients treated with eliglustat. TRAZELGA project.Orphanet journal of rare diseases · 2023Article
- A rare disease in adult women: Gaucher disease.The Journal of international medical research · 2023Article
- Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study.Molecular genetics and metabolism reports · 2023Article
- Impact of Potential Symptoms and Risks Associated with Acid Sphingomyelinase Deficiency on Patients and Caregivers: A Best-Worst Scaling Study.Patient preference and adherence · 2023Article
- Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.Orphanet journal of rare diseases · 2022Article
Corrections and comments
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Authors and funding
17 authors at 11 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDisease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated conversations about treatments and outcomes. However, generic PROMs may fail to capture disease-specific concerns. Here we report the development and validation of a Gaucher disease (GD)-specific PROM for patients with type 1 Gaucher disease (GD1) a lysosomal storage disorder characterized by hepatosplenomegaly, thrombocytopenia, anemia, bruising, bone disease, and fatigue. RESULTS AND DISCUSSION: The questionnaire was initially developed with input from 85 patients or parents of patients with GD1 or GD3 in Israel. Owing to few participating patients with GD3, content validity was assessed for patients with GD1 only. Content validity of the revised questionnaire was assessed in 33 patients in the US, France, and Israel according to US Food and Drug Administration standards, with input from a panel of six GD experts and one patient advocate representative. Concept elicitation interviews explored patient experience of symptoms and treatments, and a cognitive debriefing exercise explored patients' understanding and relevance of instructions, items, response scales, and recall period. Two versions of the questionnaire were subsequently developed: a 24-item version for routine monitoring in clinical practice (rmGD1-PROM), and a 17-item version for use in clinical trials (ctGD1-PROM). Psychometric validation of the ctGD1-PROM was assessed in 46 adult patients with GD1 and re-administered two weeks later to examine test-retest reliability. Findings from the psychometric validation study revealed excellent internal consistency and strong evidence of convergent validity of the ctGD1-PROM based on correlations with the 36-item Short Form Health Survey. Most items were found to show moderate, good, or excellent test-retest reliability.
conclusionsDevelopment of the ctGD1-PROM represents an important step forward for researchers measuring the impact of GD and its respective treatment.
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