The history and accomplishments of the ICGG <scp>G</scp>aucher registry

Weinreb, Neal J.; Kaplan, Paige

doi:10.1002/ajh.24054

Cited by 23 publications

(14 citation statements)

References 40 publications

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“…Findings from the registry, together with an open-label study among young patients, supported marketing authorization of Elaprase in children from this younger age group [33, 34]. Also in Gaucher’s disease long-term treatment information was obtained on enzyme-replacement therapy through the International Collaborative Gaucher Group Gaucher Registry [35, 36]. This registry has been useful to confirm benefits on clinical outcomes and long-term effectiveness of the treatment in routine clinical practice, including wider patient populations than those included in clinical trials.…”

Section: Resultsmentioning

confidence: 99%

Rare disease registries: potential applications towards impact on development of new drug treatments

Weide

Gaasterland

Roes

et al. 2018

Orphanet J Rare Dis

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BackgroundLow prevalence, lack of knowledge about the disease course, and phenotype heterogeneity hamper the development of drugs for rare diseases. Rare disease registries (RDRs) can be helpful by playing a role in understanding the course of the disease, and providing information necessary for clinical trial design, if designed and maintained properly. We describe the potential applications of a RDR and what type of information should be incorporated to support the design of clinical trials in the process of drug development, based on a broad inventory of registry experience. We evaluated two existing RDRs in more detail to check the completeness of these RDRs for trial design.ResultsBefore and during the application for regulatory approval a RDR can improve the efficiency and quality in clinical trial design by informing the sample size calculation and expected disease course. In exceptional circumstances information from RDRs has been used as historical controls for a one-armed clinical trial, and high quality RDRs may be used for registry-based randomized controlled trials. In the post marketing phase of (conditional) drug approval a disease-specific RDR is likely to provide more relevant information than a product-specific registry.ConclusionsA RDR can be very helpful to improve the efficiency and quality of clinical trial design in several ways. To enable the applicability and optimal use of a RDR longitudinal data collection is indispensable, and specific data collection, prepared for repeated measurement, is needed. The developed checklist can help to define the appropriate variables to include. Attention should be paid to the inclusion of patient-relevant outcome measures in the RDR from the start. More research and experience is needed on the possibilities and limitations of combining RDR information with clinical trial data to maximize the availability of relevant evidence for regulatory decisions in rare diseases.

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Section: Resultsmentioning

confidence: 99%

Rare disease registries: potential applications towards impact on development of new drug treatments

Weide

Gaasterland

Roes

et al. 2018

Orphanet J Rare Dis

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“…For these reasons, disease‐based registries can be particularly valuable when evaluating rare diseases or small patient populations, as often occurs in pediatrics . The funding of disease‐based registries can be a challenge, although a number of models have been employed …”

Section: Discussionmentioning

confidence: 99%

Pediatric registries at the Food and Drug Administration: design aspects that increase their likelihood of success

Winiecki

Tejero-Taldo

Avant

et al. 2015

Pharmacoepidemiology and Drug

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“…It is of autosomal recessive inheritance, caused by deficiency of the acidic beta-glucosidase enzyme, which leads to the accumulation of glycosylceramide, a glucocerebroside, in tissue macrophages. This compromises the spleen, liver, bone marrow, central nervous system, lung and lymph nodes and can contribute to pancytopenia and massive hepatosplenomegaly (1)(2) . Patients may have a long asymptomatic course, with few signs of disease until adulthood, or more frequently manifest clinical symptoms as early as the first years of life (1) .…”

Section: Introductionmentioning

confidence: 99%

“…This compromises the spleen, liver, bone marrow, central nervous system, lung and lymph nodes and can contribute to pancytopenia and massive hepatosplenomegaly (1)(2) . Patients may have a long asymptomatic course, with few signs of disease until adulthood, or more frequently manifest clinical symptoms as early as the first years of life (1) . The clinical or phenotypic manifestations of Gaucher disease will depend on the degree of acidic beta-glycosidase deficiency and the accumulation of glycolipids, which, because of their variability, will differentiate the clinical types of the disease: type 1, type 2 and type 3.…”

Section: Introductionmentioning

confidence: 99%

Signs and symptoms in Gaucher Disease: priority nursing diagnoses

2018

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Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. Method: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. Results: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent. Hematologic changes, bone pain, hepatomegaly, splenomegaly, and fatigue were the most recurrent signs and symptoms. The inferred diagnoses for the studied population were: Risk for bleeding; Fatigue; Chronic pain and Acute pain; Impaired physical mobility; Imbalanced nutrition: less than body requirements; and Risk for Developmental Delay. Conclusion: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context. Descriptors: Gaucher Disease; Cerebrosid Liposidosis Syndrome; Signs and Symptoms; Nursing Process; Nursing Diagnosis. RESUMO Objetivo: Identifi car os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre 2013 e 2015. A amostra (n=91) foi constituída dos registros de pacientes com diagnóstico genético para Doença de Gaucher. O estudo respeitou normas de pesquisa. Resultados: Foram prevalentes o sexo feminino (57,1%), faixa etária ao diagnóstico entre 0 e 10 anos e proveniência da Região Sudeste do Brasil. Alterações hematológicas, dor óssea, hepatomegalia, esplenomegalia, cansaço foram os sinais e sintomas mais recorrentes. Os diagnósticos inferidos para a população estudada foram: Risco de sangramento; Fadiga; Dor crônica e Dor aguda; Mobilidade física prejudicada; Nutrição desequilibrada: menos do que as necessidades corporais; e Risco de Desenvolvimento atrasado. Conclusão: O estabelecimento dos Diagnósticos de Enfermagem prioritários a partir dos sinais e sintomas possibilita alcançar resultados esperados a cada indivíduo no contexto do cuidado. Descritores: Doença de Gaucher; Síndrome de Liposidose por Cerebrosídeos; Sinais e Sintomas; Processo de Enfermagem; Diagnóstico de Enfermagem. RESUMENObjetivo: Identifi car las señales y los síntomas de pacientes con Enfermedad de Gaucher, infi riendo los posibles diagnósticos prioritarios de enfermería. Método: Estudio transversal, desarrollado entre 2013 y 2015 en un laboratorio especializado. La muestra (n=91) estaba constituida por los registros de pacientes con diagnóstico genético de la Enfermedad de Gaucher. El estudio respetó las normas de la investigación. Resultados: Prevaleció el sexo femenino (57,1%), con franja de edad entre 0 y 10 años y procedencia de la Región Sureste de Brasil. Las alteraciones hematológicas, el dolor óseo, la hepatomegalia, la esplenomegalia y el cansancio fueron las señales y los síntom...

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The history and accomplishments of the ICGG Gaucher registry

Cited by 23 publications

References 40 publications

Rare disease registries: potential applications towards impact on development of new drug treatments

Rare disease registries: potential applications towards impact on development of new drug treatments

Pediatric registries at the Food and Drug Administration: design aspects that increase their likelihood of success

Signs and symptoms in Gaucher Disease: priority nursing diagnoses

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