Quality of Life and Participation in the Daily Life (Activities) of Adults with Pompe Disease Receiving Enzyme Replacement Therapy: 10 Years of International Follow-Up

Objective:To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.Methods:We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements.Results:Median follow-up duration was 6.1 years (range 0.4–7.9 years), of which 5.0 years (range 0.2–7.3 years) were during ERT. Treated patients had better muscle strength (MRC sum score +6.6 percentage points [pp]; HHD sum score +9.6 pp, both p < 0.0001), activity levels (R-PAct +10.8 pp, p < 0.002), and pulmonary function (FVC upright +7.3 pp, FVC supine +7.6 pp, both p < 0.0003) than expected for their untreated disease course. Walking distance improved (416 vs 376 m at baseline, p = 0.03). The largest increase was seen during the first 2 to 3 years of treatment. Response to treatment was similar between groups regardless of sex, age, or disease duration.Conclusions:Long-term ERT positively affects muscle strength, pulmonary function, and daily life activities in adult patients with Pompe disease, with a peak effect at ≈2 to 3 years of treatment.Classification of evidence:This study provides Class IV evidence that for patients with Pompe disease, long-term ERT positively affects muscle strength, pulmonary function, and daily life activities.

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Quality of Life Assessment after Pancreatic Enzyme Replacement Therapy in Chronic Pancreatitis

Canadian Journal of Gastroenterology ◽

10.1155/2003/515848 ◽

2003 ◽

Vol 17 (10) ◽

pp. 597-603 ◽

Cited By ~ 41

Author(s):

László Czakó ◽

Tamás Takács ◽

Peter Hegyi ◽

László Prónai ◽

Zsolt Tulassay ◽

...

Keyword(s):

Quality Of Life ◽

Chronic Pancreatitis ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Pancreatic Enzyme ◽

Enzyme Replacement ◽

Pancreatic Enzyme Replacement Therapy ◽

Group 1

GOALS: To evaluate the quality of life (QoL) of patients with chronic pancreatitis before and after pancreatic enzyme replacement therapy in a prospective, multicentre, follow-up study.STUDY: Two groups of patients were evaluated. Group 1 consisted of 31 patients with newly diagnosed chronic pancreatitis who had never been treated with pancreatic enzyme preparations. Group 2 consisted of 39 patients whose disease was diagnosed on average 3.4 years before the start of the study. The latter group of patients had undergone pancreatic enzyme replacement therapy, but during follow-up this treatment proved to be insufficient. The dose of pancreatic enzyme replacement therapy was tailored in accordance with the degree of pancreatic exocrine insufficiency measured by means of exocrine pancreatic function tests. A modified European Organizaton for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30) was used to assess QoL.RESULTS: The social functioning and financial strain were significantly better, while the levels of hope and confidence were significantly reduced in group 1 compared with group 2. A significant gain in body weight and a significantly reduced defecation rate were found in both groups one month after the beginning of the pancreatic enzyme replacement therapy when compared with the pretreatment values. The prevalence of general and disease-specific symptoms and the intensity of pain were reduced in both groups after one month of enzyme substitution therapy. The working ability, the financial strain and the overall QoL scores were improved significantly in both groups, while the cognitive functioning score was found to be significantly improved during the follow-up only in group 1. The overall increase in the QoL score correlated significantly with the increase in body weight and the decrease in defecation number in both groups.CONCLUSIONS: Pancreatic enzyme replacement therapy in patients with chronic pancreatitis not only reduced the extent of steatorrhea and pain, but also significantly improved a variety of other symptoms and the patient’s QoL. Individually tailored enzyme replacement therapy improved the QoL not only in the untreated chronic pancreatitis patients, but also in the inadequately treated group. This study demonstrated that the EORTC QLQ-C30 questionnaire, with the addition of two further questions about steatorrhea, is a useful tool for the evaluation of QoL in patients with chronic pancreatitis.

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Effect of velmanase alfa (human recombinant alpha-mannosidase) enzyme-replacement therapy on quality of life and disease burden of patients with alpha-mannosidosis: Results from caregiver feedback

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2020.12.153 ◽

2021 ◽

Vol 132 (2) ◽

pp. S67

Author(s):

Allan Lund ◽

Nathalie Guffon ◽

Mercedes Gil-Campos ◽

Frederica Cattaneo ◽

Benedicte Heron ◽

...

Keyword(s):

Quality Of Life ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Disease Burden ◽

Enzyme Replacement

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A 4-year follow-up study of 24 patients with late onset Pompe disease treated with alglucosidase alfa enzyme replacement therapy at a single centre

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2014.12.252 ◽

2015 ◽

Vol 114 (2) ◽

pp. S111

Author(s):

Karolina M. Stepien ◽

Jane Whitby ◽

Mark Roberts ◽

Reena Sharma

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Pompe Disease ◽

Late Onset ◽

Single Centre ◽

Enzyme Replacement ◽

Follow Up Study ◽

Alglucosidase Alfa

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Long-term evaluation of respiratory outcomes in patients with late onset Pompe disease under enzyme replacement therapy: the role of postural drop and its impact on quality of life

10.1183/13993003.congress-2021.pa3291 ◽

2021 ◽

Author(s):

Grazia Crescimanno ◽

Luca Palazzolo ◽

Manuela Bertini ◽

Salvatore Arrisicato ◽

Oreste Marrone

Keyword(s):

Quality Of Life ◽

Enzyme Replacement Therapy ◽

Pompe Disease ◽

Late Onset ◽

Enzyme Replacement ◽

Term Evaluation ◽

Respiratory Outcomes

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FIVE-YEARS FOLLOW-UP OF THE RESPIRATORY AND MOTOR INVOLVEMENTS IN PATIENTS WITH LATE ONSET POMPE DISEASE (LOPD) ON IRREGULAR ENZYME REPLACEMENT THERAPY (ERT)

CHEST Journal ◽

10.1016/j.chest.2020.05.415 ◽

2020 ◽

Vol 157 (6) ◽

pp. A371

Author(s):

N. Sousa

Keyword(s):

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Pompe Disease ◽

Late Onset ◽

Enzyme Replacement

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927 – The Effects of High Dose Pancreatic Enzyme Replacement Therapy on Body Weight, Nutritional Assessment and Quality of Life After Pancreaticoduodenectomy

Gastroenterology ◽

10.1016/s0016-5085(19)40593-3 ◽

2019 ◽

Vol 156 (6) ◽

pp. S-1417

Author(s):

Hongbeom Kim ◽

Wooil Kwon ◽

Mirang Lee ◽

Sun-Whe Kim ◽

Jin-Young Jang

Keyword(s):

Quality Of Life ◽

Body Weight ◽

Enzyme Replacement Therapy ◽

Replacement Therapy ◽

Nutritional Assessment ◽

Pancreatic Enzyme ◽

High Dose ◽

Enzyme Replacement ◽

Pancreatic Enzyme Replacement Therapy

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

European Journal for Person Centered Healthcare ◽

10.5750/ejpch.v6i4.1599 ◽

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.

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