Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Watt, Torquil; Burlina, Alessandro P.; Cazzorla, Chiara; Schönfeld, Dorothee; Banikazemi, Maryam; Hopkin, Robert J.; Martins, Ana María; Sims, Katherine B.; Beitner‐Johnson, Dana; O’Brien, Fanny; Feldt‐Rasmussen, Ulla

doi:10.1097/gim.0b013e3181f13a4a

Cited by 70 publications

(66 citation statements)

References 34 publications

(59 reference statements)

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“…The results of the present (Crosbie et al 2009;Gold et al 2002;Masek et al 1999;Packman et al 2006;Watt et al 2010;Weinreb et al 2007;Wilcox et al 2008). Prevalence estimates of depression in FD range from 15 to 62% (Bolsover et al 2014;Grewal 1993;Wang et al 2007), with the largest study (n ¼ 296) reporting 46% (Cole et al 2007).…”

Section: Discussionmentioning

confidence: 55%

Psychological Health in Adults with Morquio Syndrome

Ali

Cagle

2014

JIMD Reports

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Mucopolysaccharidosis type IV (MPSIV), also known as Morquio syndrome, is a progressive genetic condition which predominantly affects skeletal development. Research thus far has focused on physical manifestations, with little attention to psychological characteristics. As a first step in determining the natural occurrence of psychological symptoms in this population, we administered Achenbach measures of psychological functioning (ASEBA ASR and OASR), quality of life (SF-36), and pain severity (BPI) questionnaires to 20 adults with Morquio syndrome. 11/20 subjects (55%) scored within the symptomatic range on at least one or more ASEBA problem scales. These subjects also had higher pain severity scores (p ¼ 0.051) and pain interference scores (p ¼ 0.03) on the BPI. However, subjects with psychological symptoms did not differ significantly on QOL measures from those without psychological symptoms. Overall, subjects scored below the US mean only in physical health QOL (p < 0.001) on the SF-

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Section: Discussionmentioning

confidence: 55%

Psychological Health in Adults with Morquio Syndrome

Ali

Cagle

2014

JIMD Reports

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“…Fabry male patients were tested when already on ERT and their results were compared with female heterozygotes who had no access to the therapy. Although it is well known that ERT affects QoL for both genders [16,18], in our sample males on ERT tended to have lower QoL in terms of EQ-VAS, EQ-index and EQ dimensions, than females without ERT.…”

Section: Discussionmentioning

confidence: 47%

“…Global reduction of QoL in patients with Fabry disease has been confirmed in studies using SF-36 questionnaire [2,3,[14][15][16]. Gold et al found that patients with Fabry disease have a score profile most similar to patients with AIDS and that in comparison with patients with Gaucher disease, Fabry patients score substantially lower across all QoL domains [2].…”

Section: Discussionmentioning

confidence: 90%

Quality of life among polish Fabry patients — a cross-sectional study quality of life among polish Fabry patients

Żuraw

Golicki

Jurecka³

et al. 2011

Open Medicine

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AbstractThis study sought to explore the following issues 1) health-related quality of life (HRQoL) in Fabry patients relative to the general population 2) the quality of life (QoL) level in heterozygous females as compared to hemizygous males and the general population. A prospective, cross-sectional study was performed in patients diagnosed with Fabry disease in Poland (n=33). HRQoL was assessed with two generic questionnaires: the Medical Outcomes Study Short Form-36 (SF-36) and EuroQol questionnaire (EQ-5D), which includes the EQ-5D descriptive system and the EQ-visual analogue scale (EQ VAS), as well as a disease-specific author’s questionnaire. When measured with EQ-VAS, the subjective perception of health status was significantly lower in Fabry patients than that of the general population. SF-36 norm-based scores showed that patients are disadvantaged mainly in social functioning, bodily pain, and mental health. Objective assessments of HRQoL according to the EQ-5D Index tend to be lower for males than for females. Only male patients experienced extreme problems identified by the EQ-5D descriptive system. HRQoL of Fabry patients, measured by EQ-5D and SF-36, is lower as compared with that of the general population. Fabry disease effects QoL in its physical, mental and social dimensions.

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“…Enzyme activity in leukocytes is always very low in affected males but may be normal or borderline normal in symptomatic affected females whose diagnosis needs to be confirmed by the genetic analysis. Current treatments consist of enzyme replacement therapy (ERT) and palliative treatments [6][7][8][9][10][11][12][13]. Two agalsidase preparations, agalsidase alfa and agalsidase beta, are available for ERT.…”

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confidence: 99%

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Concolino¹,

Degennaro²,

Parini³

et al. 2014

European Journal of Internal Medicine

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Background: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management. Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responses without consensus were discussed with an enlarged panel and modified to reach consensus. Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to show Gb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT. Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

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Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: Findings from the Fabry Registry

Cited by 70 publications

References 34 publications

Psychological Health in Adults with Morquio Syndrome

Psychological Health in Adults with Morquio Syndrome

Quality of life among polish Fabry patients — a cross-sectional study quality of life among polish Fabry patients

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

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