The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns

Žnidar, Irena; Collin-Histed, Tanya; Niemeyer, Pascal; Parkkinen, Johanna; Lauridsen, Anne-Grethe; Zariņa, Sandra; Cohen, Yossi; Manuel, Jeremy

doi:10.1186/s13023-014-0134-4

Cited by 9 publications

(6 citation statements)

References 37 publications

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“…In addition, in more severe chronic diseases, for example, Gaucher disease, the interest in patients' support groups is much higher [28]. Thus, our data underline that despite suffering from a chronic disease equal opportunities exist for patients with PKU, and a happy, normal life may be achieved by a very high percentage of affected patients.…”

Section: Discussionmentioning

confidence: 70%

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

Klimek

Baerwald

Schwarz³

et al. 2020

Ann Nutr Metab

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Background: Only few data on dietary management of adult phenylketonuria (PKU) patients are published. Objectives: This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. Methods: A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. Results: 144/183 patients (66% females) completed the questionnaire. Compared with German population, the proportion of single-person households was higher (22 vs. 47%), the rate of childbirth was lower (1.34 vs. 0.4%), but educational and professional status did not differ. 82% of the patients adhered to a low-protein diet, 45% consumed modified low-protein food almost daily, and 84% took amino acid mixtures regularly. 48% of the patients never interrupted diet, and 14% stopped diet permanently. 69% of the patients reported to feel better with diet, and 91% considered their quality of life at least as good. The prevalence of depressive symptoms was high (29%) and correlated significantly to phenylalanine blood concentrations (p = 0.046). However, depressive symptoms were only mild in the majority of patients. Conclusion: This group of early-treated adult German PKU patients is socially well integrated, reveals a surprisingly high adherence to diet and amino acid intake, and considers the restrictions of diet to their daily life as low.

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Section: Discussionmentioning

confidence: 70%

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

Klimek

Baerwald

Schwarz³

et al. 2020

Ann Nutr Metab

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“…Most patients with rare diseases have complex multisystem medical needs requiring patient-centred multidisciplinary clinics. The lack of patient/disease tailored health services has led to the development of patient self-support groups in the rare disease community to help navigate families through the existing health care system [ 2 ]. In 2000, Alstrom Syndrome UK (ASUK) was established by a handful of families, who then persuaded their physicians to set up a multidisciplinary clinic (MDC) in a hotel funded by the charity [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Groenendael

Giacovazzi

Davison

et al. 2015

Orphanet J Rare Dis

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BackgroundPatients with rare and ultra-rare diseases make heavy demands on the resources of both health and social services, but these resources are often used inefficiently due to delays in diagnosis, poor and fragmented care. We analysed the national service for an ultra-rare disease, Alstrom syndrome, and compared the outcome and cost of the service to the standard care.MethodsBetween the 9th and 26th of March 2014 we undertook a cross-sectional study of the UK Alstrom syndrome patients and their carers. We developed a semi-structured questionnaire to assess our rare patient need, quality of care and costs incurred to patients and their careers. In the UK all Alstrom syndrome patients are seen in two centres, based in Birmingham, and we systematically evaluated the national service and compared the quality and cost of care with patients’ previous standard of care.ResultsOne quarter of genetically confirmed Alstrom syndrome UK patients were enrolled in this study. Patients that have access to a highly specialised clinical service reported that their care is well organised, personalised, holistic, and that they have a say in their care. All patients reported high level of satisfaction in their care. Patient treatment compliance and clinic attendance was better in multidisciplinary clinic than the usual standard of NHS care. Following a variable costing approach based on personnel and consumables’ cost, our valuation of the clinics was just under £700/patient/annum compared to the standard care of £960/patient/annum. Real savings, however, came in terms of patients’ quality of life. Furthermore there was found to have been a significant reduction in frequency of clinic visits and ordering of investigations since the establishment of the national service.ConclusionsOur study has shown that organised, multidisciplinary “one stop” clinics are patient centred and individually tailored to the patient need with a better outcome and comparable cost compared with the current standard of care for rare disease. Our proposed care model can be adapted to several other rare and ultra-rare diseases.

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“…Of great concern for now and the future is the high cost of ERT for the lysosomal storage diseases. Current treatments for Gaucher disease for example, depending on the patient's weight and dosage, is estimated to be US$200,000-380,000 or about €154,000-292,000 per patient per year [219]. Often with deteriorating economic conditions, it is hard to see how patients, and most countries, can afford such seemingly ever-increasing, and already high if not unaffordable, medical costs.…”

Section: Living With Enzyme-replacement Therapymentioning

confidence: 98%

“…In a survey published in 2014 by the European Gaucher Alliance, an umbrella group established in 1994 to support patient organizations for the disease, valuable information was obtained in response to important questions such as numbers affected, specific treatments, availability of and access to treatments, support for patients, patient organizations, and funding sources [219]. Inequalities in access to treatment in different countries were revealed; for example, 6 % of patients in 20 countries were untreated because of a lack of funding and 3 of 27 countries relied entirely on humanitarian aid.…”

Section: Living With Enzyme-replacement Therapymentioning

confidence: 99%

Enzymes Approved for Human Therapy: Indications, Mechanisms and Adverse Effects

Baldo¹

2015

BioDrugs

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Research and drug developments fostered under orphan drug product development programs have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of rare disorders. The introduction and regulatory approval of 20 different recombinant enzymes has enabled, often for the first time, effective enzyme-replacement therapy for some lysosomal storage disorders, including Gaucher (imiglucerase, taliglucerase, and velaglucerase), Fabry (agalsidase alfa and beta), and Pompe (alglucosidase alfa) diseases and mucopolysaccharidoses I (laronidase), II (idursulfase), IVA (elosulfase), and VI (galsulfase). Approved recombinant enzymes are also now used as therapy for myocardial infarction (alteplase, reteplase, and tenecteplase), cystic fibrosis (dornase alfa), chronic gout (pegloticase), tumor lysis syndrome (rasburicase), leukemia (L-asparaginase), some collagen-based disorders such as Dupuytren's contracture (collagenase), severe combined immunodeficiency disease (pegademase bovine), detoxification of methotrexate (glucarpidase), and vitreomacular adhesion (ocriplasmin). The development of these efficacious and safe enzyme-based therapies has occurred hand in hand with some remarkable advances in the preparation of the often specifically designed recombinant enzymes; the manufacturing expertise necessary for commercial production; our understanding of underlying mechanisms operative in the different diseases; and the mechanisms of action of the relevant recombinant enzymes. Together with information on these mechanisms, safety findings recorded so far on the various adverse events and problems of immunogenicity of the recombinant enzymes used for therapy are presented.

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The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns

Cited by 9 publications

References 37 publications

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease

Enzymes Approved for Human Therapy: Indications, Mechanisms and Adverse Effects

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