ArticleOrphanet journal of rare diseases2014
Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
Article in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 71 citations in OpenAlex.
- The quality of economic evaluations of ultra-orphan drugs in Europe - a systematic review.Orphanet journal of rare diseases · 2015Pooled it
- Human, economic, and social impact of lysosomal storage diseases.Orphanet journal of rare diseases · 2025Article
- Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?PharmacoEconomics - open · 2025Article
- Scoping Review of Economic Analyses of Rare Kidney Diseases.Kidney international reports · 2024Article
- Economic Burden of Gaucher Disease at a Tertiary Care Public Hospital in Mumbai.Indian journal of pediatrics · 2024Article
- Economic Evaluation of Rare Disease Therapies in India - The Time has Come!Indian journal of pediatrics · 2024Article
- Development of quantitative high-throughput screening assays to identify, validate, and optimize small-molecule stabilizers of misfolded β-glucocerebrosidase with therapeutic potential for Gaucher disease and Parkinson's disease.bioRxiv : the preprint server for biology · 2024Article
- The estimation of health state utility values in rare diseases: do the approaches in submissions for NICE technology appraisals reflect the existing literature? A scoping review.The European journal of health economics : HEPAC : health economics in prevention and care · 2023Article
- Therapeutics in paediatric genetic diseases: Current and future landscape.Singapore medical journal · 2023Review
- Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS).Journal of clinical medicine · 2022Article
- Therapeutic Strategies For Tay-Sachs Disease.Frontiers in pharmacology · 2022Review
- Economic burden and health related quality of life of ultra-rare Gaucher disease in China.Orphanet journal of rare diseases · 2021Article
- Left to themselves: Time to target chronic pain in childhood rare diseases.Neuroscience and biobehavioral reviews · 2021Review
- Article
- One drug to treat many diseases: unlocking the economic trap of rare diseases.Metabolic brain disease · 2020Review
- Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany.Translational vision science & technology · 2020Article
- Gaucher Disease in Bone: From Pathophysiology to Practice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Review
- Cost-Effectiveness of Ventricular Assist Device Destination Therapy for Advanced Heart Failure in Duchenne Muscular Dystrophy.Pediatric cardiology · 2018Article
- Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.Clinical case reports · 2018Article
- How will the field of gene therapy survive its success?Bioengineering & translational medicine · 2018Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I).
designCost-effectiveness analysis was performed using a life-time state-transition model of the disease's natural course. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch study cohort.
settingThe tertiary referral center for Gaucher disease in the Netherlands.
participantsThe Dutch cohort of patients with GD I.
interventionERT versus standard medical care without ERT in symptomatic patients.
main outcome measuresYears free of end organ damage (YFEOD) (splenectomy, bone complication, malignancy, multiple complications), quality adjusted life years (QALY), and costs.
resultsOver an 85 year lifetime, an untreated GD I patient will generate 48.9 YFEOD and 55.86 QALYs. Starting ERT in a symptomatic patient increases the YFEOD by 12.8 years, while the number of QALYs gained increases by 6.27. The average yearly ERT medication costs range between € 124,000 and € 258,000 per patient. The lifetime costs of ERT starting in the symptomatic stage are € 5,716,473 against € 171,780 without ERT, a difference of € 5,544,693. Consequently, the extra costs per additional YFEOD or per additional QALY are € 434,416 and € 884,994 respectively. After discounting effects by 1.5% and costs by 4% and under a reasonable scenario of ERT unit cost reduction by 25%, these incremental cost-effectiveness ratios could decrease to € 149,857 and € 324,812 respectively. DISCUSSION: ERT is a highly potential drug for GD I with substantial health gains. The conservatively estimated incremental cost-effectiveness ratios are substantially lower than for Pompe and Fabry disease. We suggest that the high effectiveness has contributed importantly to acceptance of reimbursement of ERT for GD I. The present study may further support discussions on acceptable price limits for ultra-orphan products.
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