Musculoskeletal comorbidities and quality of life in ENPP1 ‐deficient adults and the response of enthesopathy to enzyme replacement therapy in murine models

2021 ◽  
Author(s):  
Carlos R. Ferreira ◽  
Jain Ansh ◽  
Catherine Nester ◽  
Christine O'Brien ◽  
Paul Stabach ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Murine Models ◽  
Enzyme Replacement

scholarly journals Effects of Exercise Training on Functional Capacity and Quality of Life in a Patient with Late-Onset Pompe Disease Receiving Enzyme Replacement Therapy

2015 ◽  
Vol 2 (s1) ◽  
pp. S33-S33
Author(s):  
Rosângela M. Silva ◽  
Carmen S.C. Mendes ◽  
Carolina C. Aranda ◽  
Marco A. Curiati ◽  
Maret H. Rand ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Exercise Training ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Functional Capacity ◽  
Pompe Disease ◽  
Late Onset ◽  
Enzyme Replacement

Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes

2018 ◽  
Vol 6 (4) ◽  
pp. 669
Author(s):  
Paolo Tirelli ◽  
Fiorina Giona ◽  
Maja Di Rocco ◽  
Elena Cassinerio ◽  
Antonio Pisani ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Nursing Service ◽  
Enzyme Replacement ◽  
Home Based ◽  
Patient Reported

Background:  Lysosomal storage diseases (LSDs) are a heterogeneous group of rare chronic genetic conditions. The standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, established in 2011 by Sanofi Genzyme, is a professional nursing service providing home-based ERT to patients with LSDs.Objectives:  The current questionnaire-based study was conducted to investigate the level of patient satisfaction with theTuTor program and to shed light on disease perception.Methods:  Patients were enrolled in the TuTor program from 2011 onwards. The first 100 patients enrolled were interviewed at baseline with follow-up interviews conducted at 6, 12 and 18 months.Results: Overall, 52 patients were female; 46 had Gaucher’s disease, 46 had Fabry disease and 8 had mucopolysaccharidosis type 1. Patients took on average >2 hours to receive hospital-based ERT, plus time associated with the infusion; 2 out of 3 patients needed a caregiver to travel to the hospital. After receiving home-based ERT for 6 months, 37% of patients considered their quality of life ‘greatly improved’ (60% at 18 months). Overall, 99% to 100% of patients rated the home-based nursing service as ‘positive’ or ‘very positive’ and reported that they would recommend the service to other patients with their condition.Conclusions: For patients with LSDs eligible for ERT, a disease-specific home-based nursing service increased their perception of quality of life over a hospital-based service and was advantageous in terms of their time and expenditure.

Enzyme Replacement Therapy in Fabry Disease Patients Undergoing Dialysis: Effects on Quality of Life and Organ Involvement

2005 ◽  
Vol 46 (1) ◽  
pp. 120-127 ◽  
Author(s):  
Antonio Pisani ◽  
Letizia Spinelli ◽  
Massimo Sabbatini ◽  
Maria Vittoria Andreucci ◽  
Deni Procaccini ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Organ Involvement ◽  
Enzyme Replacement

scholarly journals Clinical course and approaches to the therapy of chronic pancreatitis in patients with comorbid pathology

2017 ◽  
Vol 36 (2) ◽  
pp. 45-48
Author(s):  
Т. А. Ruzhentsova
Keyword(s):  
Quality Of Life ◽  
Chronic Pancreatitis ◽  
Cardiovascular Diseases ◽  
Enzyme Replacement Therapy ◽  
Cardiovascular System ◽  
Replacement Therapy ◽  
Clinical Course ◽  
Enzyme Replacement

The features of pathogenesis, clinical course and diagnostics of chronic pancreatitis combined with diseases of the cardiovascular system are discussed in the article. Results of the author’s own research on the effectiveness of influence of enzyme replacement therapy on the course of pancreatitis and comorbid pathology are presented. Significant positive dynamics of both manifestations of chronic pancreatitis and cardiovascular diseases, laboratory and instrumental examinations, improvement of patients’ quality of life upon the prescription of pancreatin are noted.

scholarly journals Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

2015 ◽  
Vol 39 (2) ◽  
pp. 253-260 ◽  
Author(s):  
Deniz Güngör ◽  
Michelle E. Kruijshaar ◽  
Iris Plug ◽  
Dimitris Rizopoulos ◽  
Tim A. Kanters ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Pompe Disease ◽  
Daily Life ◽  
Enzyme Replacement

Enzyme replacement therapy carries for 4-7years in Fabry disease thereafter quality of life decreases

2016 ◽  
Vol 117 (2) ◽  
pp. S64
Author(s):  
I. Ilkka Kantola ◽  
Antti-Pekka Annala ◽  
Tiina Helio ◽  
Aki Hietaharju ◽  
Kristiina Kananen ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Fabry Disease ◽  
Replacement Therapy ◽  
Enzyme Replacement
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