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    ABSTRACT: To determine the effectiveness of enzyme replacement therapies (ERT) for children with Gaucher disease (GD). A longitudinal cohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Children on treatment contributed data before and during treatment. Children not on treatment contributed natural history data. Consenting children (N = 25, aged 1.1 to 15.6 years) with a diagnosis of GD (14 with GD1 and 11 with GD3) who attended a specialist treatment centre in England. At recruitment, 24 patients were receiving ERT (mean treatment duration, 5.57 years; range 0-13.7 years). Clinical outcomes chosen to reflect disease progression, included platelet count; haemoglobin and absence/presence of bone pain. Duration of ERT was associated with statistically significant improvements in platelet count (p < 0.001), haemoglobin (p < 0.001), and reported bone pain (p = 0.02). The magnitude of effect on haematological parameters was greater in children with GD3 than in those with GD1. These data provide further evidence of the long-term effectiveness of ERT in children with GD.
    Journal of Inherited Metabolic Disease 03/2014; · 4.07 Impact Factor
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    ABSTRACT: Funding of expensive treatments for rare ('orphan') diseases is contentious. These agents fare poorly on 'efficiency' or health economic measures, such as the QALY, because of high cost and frequently poor gains in quality of life and survival. We show that cost-effectiveness assessments are flawed, and have only a limited role to play in reimbursement decisions for orphan drugs and beyond.
    QJM: monthly journal of the Association of Physicians 01/2014; · 2.36 Impact Factor
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    ABSTRACT: To 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). Cost-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.Setting: The tertiary referral center for Gaucher disease in the Netherlands.Participants: The Dutch cohort of patients with GD I.Intervention: ERT versus standard medical care without ERT in symptomatic patients.Main outcome measures: Years free of end organ damage (YFEOD) (splenectomy, bone complication, malignancy, multiple complications), quality adjusted life years (QALY), and costs. Over 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 [euro sign]124,000 and [euro sign]258,000 per patient. The lifetime costs of ERT starting in the symptomatic stage are [euro sign]5,716,473 against [euro sign]171,780 without ERT, a difference of [euro sign]5,544,693. Consequently, the extra costs per additional YFEOD or per additional QALY are [euro sign]434,416 and [euro sign]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 [euro sign]149,857 and [euro sign]324,812 respectively. 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.
    Orphanet Journal of Rare Diseases 04/2014; 9(1):51. · 4.32 Impact Factor

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May 16, 2014