Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Weinreb, Neal J.; Aggio, Mario Carlos; Andersson, Hans; Andria, Generoso; Charrow, Joel; Clarke, Joe T.R.; Erikson, Anders; Giraldo, Pilar; Goldblatt, Jack; Hollak, Carla E. M.; Ida, Hiroyuki; Kaplan, Paige; Kolodny, Edwin H.; Mistry, Pramod K.; Pastores, Gregory M.; Pires, Ricardo Flores; Prakesh-Cheng, Ainu; Rosenbloom, Barry E.; Scott, C. Ronald; Sobreira, Elisa; Tylki‐Szymańska, Anna; Vellodi, Ashok; Dahl, Stephan Vom; Wappner, Rebecca S.; Zimran, Ari

doi:10.1053/j.seminhematol.2004.07.010

Cited by 148 publications

(124 citation statements)

References 36 publications

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“…In children and adults with diverse presentations of disease, treatment with intravenous macrophage-targeted enzyme replacement therapy (imiglucerase, Cerezyme 1 , Genzyme Corporation) has been shown to abate anemia, thrombocytopenia, and organomegaly and to impede the progression of bone disease [10]. Imiglucerase has been the standard of care for the treatment of patients with GD1 since its introduction in 1994 [11]. In some countries, an oral therapy based on the principle of reducing substrate load (miglustat, Zavesca 1 , Actelion Pharmaceuticals, Ltd.) is licensed for adult patients with mild to moderate GD1 for whom enzyme replacement therapy is not a therapeutic option due to allergy, hypersensitivity, or poor venous access [12].…”

Section: Introductionmentioning

confidence: 99%

“…Patients with other chronic multisystem disorders, e.g., asthma, diabetes mellitus, and congestive heart failure, have benefited from the introduction and implementation of protocols for disease management including definition of quantifiable therapeutic goals [13][14][15][16][17]. For GD1, therapeutic goals believed to be clinically meaningful, but not necessarily equivalent to normal values [18], and monitoring guidelines [11] have been proposed in the context of a disease management algorithm that may be applied to current and future treatments (see Fig. 1).…”

Section: Introductionmentioning

confidence: 99%

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A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

Weinreb¹,

Taylor²,

Cox

et al. 2008

American J Hematol

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To assess the extent to which patients with type 1 Gaucher disease (GD1) receiving individualized enzyme replacement therapy with imiglucerase attain six defined therapeutic goals. One hundred and ninety-five GD1 patients enrolled in the ICGG Gaucher Registry, all of whom had data available for hemoglobin, platelet count, liver volume, spleen volume, bone pain, and bone crises at first infusion and after 4 years of therapy with imiglucerase, were evaluated for achievement of published therapeutic goals. The proportion of patients who met all six therapeutic goals increased from 2.1% at first infusion to 41.5% at 4 years; ‡5 goals from 12.8% to 76.9%; ‡4 goals from 37.4% to 92.8%; ‡3 goals from 70.8% to 99.0%; and ‡2 goals from 95.4% to 99.5%. All patients met at least one goal at first infusion and after 4 years of treatment. The proportion of patients meeting specific therapeutic goals increased for all parameters between first infusion and 4 years of therapy: platelet count (24.6%-79.5%), spleen volume (25.6%-78.5%), liver volume (45.6%-90.8%), bone pain (62.6-70.3%), hemoglobin (68.2-91.8%), and bone crises (91.8-99.0%). On average, patients who received higher doses of imiglucerase achieved a greater number of therapeutic goals. This analysis provides a benchmark for evaluating the utility of a disease management approach for GD1 based on monitoring achievement of therapeutic goals after treatment with imiglucerase. Am. J. Hematol. 83:890-895, 2008. V

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

Weinreb¹,

Taylor²,

Cox

et al. 2008

American J Hematol

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“…Dans la maladie de Gaucher, l'efficacité thérapeutique de l'enzymothérapie sur l'asthénie, l'hépatosplénomégalie, la thrombopénie et l'anémie est remarquable. Un certain nombre d'interrogations subsistent sur la réponse de l'os à l'enzymothérapie, qui nécessite souvent plusieurs années de traitement et reste parfois incomplète [9,10]. Certaines questions sont intéressantes à discuter, comme la dose de maintenance adéquate et la fréquence optimale d'administration de l'imiglucérase [11].…”

Section: Maladie De Gaucherunclassified

“…Quelle est la dose d'α-glucosidase recombinante optimale à administrer ? La question de la production en quantité suffisante de l'enzyme pourrait se poser, puisque les doses perfusées sont considérables (10,20, voire 40 mg de protéines par kilo de poids). Dans le même temps, de nombreux patients adultes sont par ailleurs actuellement en déshérence de soins avec l'espoir de recevoir un jour cette thérapeutique spécifique disponible pour les enfants.…”

Section: Glycogénose De Type II Ou Maladie De Pompeunclassified

Thérapies enzymatiques substitutives des maladies lysosomales

Germain

Boucly

Carlier

et al. 2010

La Revue de Médecine Interne

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“…Based on its review of both published and unpublished data, the Canadian Expert Drug Advisory Committee (CEDAC), on 24 November 2004, made its final recommendation that miglustat not be listed as a therapeutic option for Canadian patients with GD [21]. CEDAC concluded that there was insufficient evidence that miglustat has a clinically meaningful impact on the key hematologic and bone complications and that there is insufficient evidence to show whether treatment reduces fatigue, bone pain, bone complications, or blood product transfusion requirements.…”

Section: Summary Of Statements From the European United States And mentioning

confidence: 99%

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

et al. 2005

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Type 1 Gaucher disease (GD) is a progressive lysosomal storage disorder due to an autosomal recessive deficiency of glucocerebrosidase. Clinical manifestations include anemia, thrombocytopenia, hepatosplenomegaly, and bone and pulmonary disease. Intravenous enzyme replacement (ERT) with imiglucerase is the accepted standard for treatment of symptomatic patients. More than 3,500 patients worldwide have received ERT with well-documented beneficial effects on the hematological, visceral, skeletal, and pulmonary manifestations, and with resultant improvement in health-related quality of life. Miglustat, an imino sugar that reversibly inhibits glucosylceramide synthase and reduces intracellular substrate burden, is an oral treatment for patients with type 1 GD that was recently approved in the United States for symptomatic patients with mild to moderate clinical manifestations for whom ERT is not an option. Because responses to miglustat are slower and less robust than those observed with ERT, and because miglustat is associated with significant side effects, clinicians who care for patients with GD should become familiar with the limited indications for miglustat use and the circumstances when it may be prescribed appropriately. This review article and position statement represents the current opinion of American physicians with extensive expertise in GD regarding patient management in the context of the availability of standard imiglucerase treatment and the recent introduction of miglustat. Am.

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Gaucher disease type 1: Revised recommendations on evaluations and monitoring for adult patients

Cited by 148 publications

References 36 publications

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

Thérapies enzymatiques substitutives des maladies lysosomales

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease

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