SynthesisOrphanet journal of rare diseases2015
Quality of life in patients with Fabry disease: a systematic review of the literature.
Synthesis in Orphanet journal of rare diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 3 of them syntheses that pooled it.
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
55 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- A systematic literature review on the health-related quality of life and economic burden of Fabry disease.Orphanet journal of rare diseases · 2024Pooled it
- Enzyme replacement therapy for Anderson-Fabry disease.The Cochrane database of systematic reviews · 2016Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction.Journal of inherited metabolic disease · 2026Article
- Approaches used to model patient and carer health-related quality of life in economic models of rare disease treatments in NICE appraisals.Health and quality of life outcomes · 2026Review
- Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.Orphanet journal of rare diseases · 2026Article
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta.Orphanet journal of rare diseases · 2025Observational
- A composite measurement concept for monitoring cardiac function in Fabry disease.Orphanet journal of rare diseases · 2025Article
- Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials.Advances in therapy · 2025Article
- Reversing Pathology in an Aggravated Fabry Mouse Model Using Low-Dose Engineered Human Alpha-Galactosidase A AAV Gene Therapy.Biomedicines · 2025Article
- One SQ HEDGES DNA vector only dose produces durable hGLA or anti-SARS-CoV-2 mAb therapeutic serum protein levels.PloS one · 2025Article
- Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development.Frontiers in pharmacology · 2025Review
- Article
- Impact of the Covid19 pandemic on health-related quality of life in patients with Fabry disease - implications for future care of patients with rare diseases.Molecular genetics and metabolism reports · 2024Article
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families.Epilepsia open · 2024Article
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations.Frontiers in cardiovascular medicine · 2024Review
- Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.Orphanet journal of rare diseases · 2023Article
- Safety and tolerability of agalsidase beta infusions shorter than 90 min in patients with Fabry disease: post-hoc analysis of a Japanese post-marketing study.Orphanet journal of rare diseases · 2023Article
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
Fabry disease (FD), caused by deficiency of the lysosomal enzyme α-galactosidase-A, is a progressive multisystem disease. The disease is X-linked with generally more severe manifestations in males, but can impact on quality of life (QoL) of both male and female patients. The purpose of this literature review is to analyse the currently available data concerning QoL measurement, specifically which questionnaires have been used to measure QoL, how patients with FD score compared to the general population, and the effects of enzyme replacement therapy (ERT) on QoL. Fifty-four articles were relevant for this literature review. Patients with FD had a lower QoL compared to the general population. No definite conclusions could be drawn from the studies on the effect of ERT on QoL; natural history data is scarce, changes observed were limited and the cohorts were of small size. We propose that a FD specific questionnaire be made to accurately assess QoL in patients with FD.
Indexed as
Identifiers
What Socratic 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 Socratic graph.