ReviewOrphanet journal of rare diseases2011
Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.
Review in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 3 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- Quality of life in patients with Fabry disease: a systematic review of the literature.Orphanet journal of rare diseases · 2015Pooled it
- Enzyme replacement and substrate reduction therapy for Gaucher disease.The Cochrane database of systematic reviews · 2015Pooled it
- Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.Journal of inherited metabolic disease · 2014Pooled it
- Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.Radiology · 2023Trial
- Seven-year safety and efficacy with velaglucerase alfa for treatment-naïve adult patients with type 1 Gaucher disease.American journal of hematology · 2015Trial
- Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States.Orphanet journal of rare diseases · 2023Article
- Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study.Frontiers in pharmacology · 2022Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.Orphanet journal of rare diseases · 2020Article
- Registries for orphan drugs: generating evidence or marketing tools?Orphanet journal of rare diseases · 2020Article
- Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.International journal of molecular sciences · 2020Review
- RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.Journal of neuromuscular diseases · 2020Observational
- Ethical Questions Linked to Rare Diseases and Orphan Drugs - A Systematic Review.Risk management and healthcare policy · 2020Article
- Research activity and capability in the European reference network MetabERN.Orphanet journal of rare diseases · 2019Article
- Rare disease registries: potential applications towards impact on development of new drug treatments.Orphanet journal of rare diseases · 2018Article
- Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases.Orphanet journal of rare diseases · 2018Review
- Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases.Drugs · 2017Article
- Hearing loss in children with Fabry disease.Journal of inherited metabolic disease · 2017Article
- Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).Journal of inherited metabolic disease · 2017Review
- Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.PloS one · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and data is frequently incomplete. Some registries also address phenotypic heterogeneity and natural history data and publications on these aspects have contributed to the knowledge and awareness of these rare diseases. However, for the assessment of long-term outcomes and for cost-effectiveness, the incompleteness and variable quality of the data raises concerns on the usefulness of these registries. The existing registries for orphan drug treatments for lysosomal storage disorders (LSD's) illustrate these limitations. LSD's are inherited disorders of lysosomal metabolism with a wide variety in clinical symptoms, ranging from severe life-threatening neurological disease to mild or even asymptomatic cases. Their prevalence is extremely low and thus data is scarce and scattered all over Europe. In the past few years, several enzyme replacement therapies and an oral substrate inhibitor have been developed which provide lifelong treatment of LSD's. For Fabry disease, two enzymes were authorized at the same time resulting in two different drug registries being required by the European Medicines Agency (EMA) to monitor effectiveness and safety. This has lead to patient data being divided between two separate registries which may have contributed to delays in the assessment of important outcomes. Three treatments (including a recently approved new enzyme) have now been authorized for Gaucher Disease and two other potential therapies are in the pipeline. Dividing up the data on Gaucher disease patients in to five separate registries benefits nobody. We argue that disease specific (rather than drug specific) registries, supervised by independent clinicians are urgently needed for the best long-term evaluation of treatments of these rare diseases.
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.