Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

Winkel, L. P.F.; Kamphoven, Joep H. J.; Hout, Hannerieke J.M.P. van den; Severijnen, Lies Anne; Doorn, Pieter A. van; Reuser, Arnold; Ploeg, Ans T. van der

doi:10.1002/mus.10381

Cited by 87 publications

(76 citation statements)

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“…Nevertheless, in most patients, urge symptoms persisted and did not seem to respond to ERT. An accumulation of glycogen in the smooth muscles of the lamina muscularis in all parts of the gastrointestinal tract but also in the urinary bladder has been frequently demonstrated in the mice models of glycogen storage disease type II and also in autopsies of patients with infantile and adult Pompe disease (Van der Walt et al 1987;Bijvoet et al 1999;Winkel et al 2003;Kobayashi et al 2010;Hobson-Webb et al 2012). Therefore, evidence suggests that disturbed smooth muscles cause the symptoms of bowel and urinary incontinence.…”

Section: Discussionmentioning

confidence: 99%

“…abdominal pain, poor weight gain, chronic diarrhoea, postprandial discomfort) and Gaucher disease (weight loss, cachexia, abdominal pain) and were reported to respond well to ERT (Verderese et al 1993;Banikazemi et al 2005). The lysosomal accumulation of glycogen in smooth muscles in different organs was shown in a GAA knockout mouse model (Bijvoet et al 1999), in infantile Pompe disease (Winkel et al 2003) and in autopsies (including the organs of the gastrointestinal tract and the urinary tract; Swash et al 1985;van der Walt et al 1987;Kobayashi et al 2010;Hobson-Webb et al 2012 ), in biopsies of the arrector pili muscle (Katona et al 2014), and in imaging studies of cerebral vessels of adult Pompe disease cases (Sacconi et al 2010;Hobson-Webb et al 2012).…”

Section: Introductionmentioning

confidence: 99%

“…In 20 patients with late-onset Pompe disease, 25% had incontinence definitely attributable to Pompe disease (Remiche et al 2012). The application of ERT led to a variable reduction of lysosomal glycogen in the smooth muscles (Bijvoet et al 1999;Winkel et al 2003) and to a reduction of gastrointestinal symptoms including incontinence (Bernstein et al 2010;Sacconi et al 2010;Remiche et al 2012). In addition, urinary incontinence was reported less frequently in patients with adult Pompe disease than bowel incontinence (Chancellor et al 1991;Remiche et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

et al. 2014

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Objective: To determine the frequency and impact of gastrointestinal symptoms, and bowel and urinary incontinence, as this is currently unknown in adults with Pompe disease.Methods: Adult German Pompe patients and age-and gender-matched controls were asked about symptoms in the upper and lower intestinal tract as well as urinary incontinence using the Gastrointestinal Symptoms Questionnaire and the International Consultation on Incontinence Questionnaires for Bowel Symptoms and Urinary Incontinence.Results: The overall response rate was 78%; 57 patients and 57 controls participated. The mean age of the patients was 48.3 years AE14.7 (28 female, 29 male). 84% of patients were receiving enzyme replacement therapy. Stool urgency, diarrhoea, and urinary urge incontinence were reported significantly more frequently in patients compared to the age-and gender-matched controls (55%, 56%, 33% vs. 20%, 18%, 7%). 20% of Pompe patients used loperamide daily against diarrhoea. No other gastrointestinal tract-related symptoms were reported to occur more frequently in Pompe patients than in controls.Conclusions: Compared to age-and gender-matched controls, both urinary and bowel incontinence occur in a higher frequency in adults with Pompe disease and have a major impact on daily life.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

et al. 2014

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“…A trace amount of the naturally occurring 95-kDa biosynthetic intermediate was seen in cultured fibroblasts from the fourth patient (patient 1). When we used a more sensitive detection method, 35 S-methionine incorporation, we could detect lowlevel synthesis of ␣-glucosidase in 3 of the 4 patients (patients 1, 2, and 4) and some posttranslation modification from 110 kDa to 95 kDa in 1 of them (patient 1; Fig 2B). Patient 3 remained totally deficient with both detection methods (negative for cross-reactive immunologic material [CRIM negative]).…”

Section: Clinical Condition and Molecular Delineation Of Patientsmentioning

confidence: 99%

“…A detailed account of the morphologic changes in muscle is given. 35 The glycogen concentration in muscle stabilized in patients 2, 3, and 4 and decreased in patient 1 during the course of treatment (Table 3). …”

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confidence: 90%

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk

et al. 2004

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ABSTRACT. Objective. Recent reports warn that the worldwide cell culture capacity is insufficient to fulfill the increasing demand for human protein drugs. Production in milk of transgenic animals is an attractive alternative. Kilogram quantities of product per year can be obtained at relatively low costs, even in small animals such as rabbits. We tested the long-term safety and efficacy of recombinant human ␣-glucosidase (rhAGLU) from rabbit milk for the treatment of the lysosomal storage disorder Pompe disease. The disease occurs with an estimated frequency of 1 in 40 000 and is designated as orphan disease. The classic infantile form leads to death at a median age of 6 to 8 months and is diagnosed by absence of ␣-glucosidase activity and presence of fully deleterious mutations in the ␣-glucosidase gene. Cardiac hypertrophy is characteristically present. Loss of muscle strength prevents infants from achieving developmental milestones such as sitting, standing, and walking. Milder forms of the disease are associated with less severe mutations and partial deficiency of ␣-glucosidase.Methods. In the beginning of 1999, 4 critically ill patients with infantile Pompe disease (2.5-8 months of age) were enrolled in a single-center open-label study and treated intravenously with rhAGLU in a dose of 15 to 40 mg/kg/week.Results. Genotypes of patients were consistent with the most severe form of Pompe disease. Additional molecular analysis failed to detect processed forms of ␣-glucosidase (95, 76, and 70 kDa) in 3 of the 4 patients and revealed only a trace amount of the 95-kDa biosynthetic intermediate form in the fourth (patient 1). With the more sensitive detection method, 35 S-methionine incorporation, we could detect low-level synthesis of ␣-glucosidase in 3 of the 4 patients (patients 1, 2, and 4) with some posttranslation modification from 110 kDa to 95 kDa in 1 of them (patient 1). One patient (patient 3) remained totally deficient with both detection methods (negative for cross-reactive immunologic material [CRIM negative]). The ␣-glucosidase activity in skeletal muscle and fibroblasts of all 4 patients was below the lower limit of detection (<2% of normal). The rhAGLU was tolerated well by the patients during >3 years of treatment. AntirhAGLU immunoglobulin G titers initially increased during the first 20 to 48 weeks of therapy but declined thereafter. There was no consistent difference in antibody formation comparing CRIM-negative with CRIMpositive patients. Muscle ␣-glucosidase activity increased from <2% to 10% to 20% of normal in all patients during the first 12 weeks of treatment with 15 to 20 mg/kg/week. For optimizing the effect, the dose was increased to 40 mg/kg/week. This resulted, 12 weeks later, in normal ␣-glucosidase activity levels, which were maintained until the last measurement in week 72. Importantly, all 4 patients, including the patient without any endogenous ␣-glucosidase (CRIM negative), revealed mature 76-and 70-kDa forms of ␣-glucosidase on Western blot. Conversion of the 110-kDa precurs...

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Timing of diagnosis of patients with pompe disease: Data from the pompe registry

Kishnani

Amartino

Lindberg

et al. 2013

American J of Med Genetics Pt A

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Diagnostic delays in Pompe disease are common. The diagnostic gap (the time from the onset of symptoms to the diagnosis of Pompe disease) and factors associated with diagnostic delays were examined among Pompe Registry patients in three onset categories: Group A, onset ≤12 months of age with cardiomyopathy; Group B, onset ≤12 months without cardiomyopathy and onset >12 months to ≤12 years; and Group C, onset >12 years. Of 1,003 patients, 647 were available for analysis. In all groups, musculoskeletal signs and symptoms were among the most frequent presenting signs and symptoms, in addition to cardiomyopathy in Group A, which was part of the group's definition. Diagnostic gaps existed in all three groups. Patients presenting with respiratory and musculoskeletal signs and symptoms concurrently had the shortest diagnostic gap, while those presenting with neither respiratory nor musculoskeletal signs and symptoms had the longest. Independent factors influencing the probability of a long diagnostic gap included presenting signs and symptoms (all three groups) and year of diagnosis and age at symptom onset (Groups B and C). Group B, which represents the infantile patients without cardiomyopathy and juvenile Pompe cases, had the longest median gap (12.6 years). Diagnostic testing methods used also were reviewed. Despite the availability of blood-based assays that can be used to quickly and accurately diagnose Pompe disease, diagnostic gaps in Pompe patients across the disease spectrum continue.

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Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

Cited by 87 publications

References 29 publications

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Urge Incontinence and Gastrointestinal Symptoms in Adult Patients with Pompe Disease: A Cross-Sectional Survey

Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human α-Glucosidase From Milk

Timing of diagnosis of patients with pompe disease: Data from the pompe registry

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