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  • 1
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    Is the brain involved in patients with late‐onset Pompe disease?
    Wiley ; 2022
    In:  Journal of Inherited Metabolic Disease Vol. 45, No. 3 ( 2022-05), p. 493-501
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 45, No. 3 ( 2022-05), p. 493-501
    Abstract: Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late‐onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white‐matter abnormalities (WMA) and impaired cognition on long‐term enzyme treatment are reported in a subset of patients. Brain imaging (T1, T2, T2 fluid‐attenuated inversion recovery, susceptibility‐weighted images, and magnetic resonance angiography–time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities). We included 19 patients with late‐onset Pompe disease (age range 11‐56 years). Two patients showed mild punctate WMA within normal range for age, with a Fazekas score (FS) of 1 to 2. Magnetic resonance angiography revealed a slight vertebrobasilar dolichoectasia in two patients yet did not show any aneurysms or vascular dissections. Most patients had age‐adjusted scores within the normal range for the Wechsler index scores (verbal comprehension, perceptual reasoning, working memory, and processing speed) and combined total intelligence (IQ) score (median 101, interquartile range 91‐111; one patient had a below‐average score for total IQ) as well as for the specific domains verbal fluency, attention, and memory. A subset of patients performed suboptimally on the Rey Complex Figure Test (9/14 patients) or cube‐copying/clock‐drawing test of the MoCA (8/10 patients). We therefore concluded that our study showed no brain abnormalities, other than minor microvascular lesions considered within normal range for age, nor general cognitive impairment in late‐onset Pompe patients. These findings are in sharp contrast with the widespread WMA and cognitive problems found in some classic infantile patients.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v45.3
    DOI: 10.1002/jimd.12469
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2006875-X
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  • 2
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    Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients
    Wiley ; 2020
    In:  Journal of Inherited Metabolic Disease Vol. 43, No. 6 ( 2020-11), p. 1243-1253
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 43, No. 6 ( 2020-11), p. 1243-1253
    Abstract: The aim of this study was to compare the long‐term outcome of classic infantile Pompe patients treated with 20 mg/kg alglucosidase alfa every other week (eow) to those treated with 40 mg/kg/week, and to study the additional effect of immunomodulation. Six patients received 20 mg/kg eow and twelve 40 mg/kg/week. Five patients were cross‐reactive immunologic material (CRIM)‐negative, two in the 20 mg, three in the 40 mg group. We compared (ventilator‐free) survival, motor outcome, infusion associated reactions (IARs), and antibody formation. From 2012 on patients 〉 2 months in the 40 mg group also received immunomodulation with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in an enzyme replacement therapy (ERT)‐naïve setting. Survival was 66% in the 20 mg group and 92% in the 40 mg group. Ventilator‐free survival was 50% and 92%. Both CRIM‐negative patients in the 20 mg group died, whereas all three are alive in the 40 mg group. In the 20 mg group, 67% learned to walk compared with 92% in the 40 mg group. At the age of 3 years, 33% and 92% were able to walk. Peak antibody titers ranged from 1:1250 to 1:31 250 in the 20 mg group and from 1:250 to 1:800 000 in the 40 mg group. Five patients of the 40 mg group of whom two CRIM‐negative also received immunomodulation. B‐cell recovery was observed between 5.7 and 7.9 months after the last dose of rituximab. After B‐cell recovery titers of patients with and without immunomodulation were similar (ranges 1:6 250‐1:800 000 and 1:250‐1:781 250). This study shows that classic infantile patients treated with 40 mg/kg/week from the start to end have a better (ventilator‐free) survival and motor outcome. Immunomodulation did not prevent antibody formation in our study.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v43.6
    DOI: 10.1002/jimd.12268
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2020
    detail.hit.zdb_id: 2006875-X
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  • 3
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    The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients
    Wiley ; 2012
    In:  Journal of Inherited Metabolic Disease Vol. 35, No. 2 ( 2012-03), p. 317-323
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 35, No. 2 ( 2012-03), p. 317-323
    Abstract: Pompe disease is a lysosomal storage disorder characterized by progressive muscle weakness. With the emergence of new treatment options, psychometrically robust outcome measures are needed to monitor patients’ clinical status. We constructed a motor function test that is easy and quick to use. The Quick Motor Function Test (QMFT) was constructed on the basis of the clinical expertise of several physicians involved in the care of Pompe patients; the Gross Motor Function Measure and the IPA/Erasmus MC Pompe survey. The test comprises 16 items. Validity and test reliability were determined in a cohort of 91 Pompe patients (5 to 76 years of age). In addition, responsiveness of the scale to changes in clinical condition over time was examined in a subgroup of 18 patients receiving treatment and 23 untreated patients. Interrater and intrarater reliabilities were good (intraclass correlation coefficients: 0.78 to 0.98 and 0.76 to 0.98). The test correlated strongly with proximal muscle strength assessed by hand held dynamometry and manual muscle testing (rs= 0.81, rs=0.89), and showed significant differences between patient groups with different disease severities. A clinical‐empirical exploration to assess responsiveness showed promising results, albeit it should be repeated in a larger group of patients. In conclusion, the Quick Motor Function Test can reliably rate clinical severity and motor function in children and adults with Pompe disease.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-011-9388-3
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2012
    detail.hit.zdb_id: 2006875-X
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  • 4
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    Long‐term follow‐up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy
    Wiley ; 2018
    In:  Journal of Inherited Metabolic Disease Vol. 41, No. 6 ( 2018-12), p. 1205-1214
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 41, No. 6 ( 2018-12), p. 1205-1214
    Abstract: Pompe disease is a progressive metabolic myopathy for which enzyme replacement therapy (ERT) was approved in 2006. While various publications have examined the effects of ERT in classic‐infantile patients and in adults, little has been published on ERT in children with non‐classic presentations. Study design This prospective study was conducted from June 1999 to May 2015. Seventeen patients from various countries participated. Outcome measures comprised muscle function (6‐minute walk test, quick motor‐function test (QMFT)), muscle strength (hand‐held dynamometry; manual muscle testing), and lung function (FVC sitting and supine). For each outcome measure, we used linear mixed‐effects models to calculate the difference at group level between the start of therapy and 7 years of ERT. Patients’ individual responses over time were also evaluated. Results Eleven males and six females started ERT at ages between 1.1 and 16.4 years (median 11.9 years); 82% of them carried the common c.‐32‐13T  〉  G GAA gene variant on one allele. At group level, distance walked increased by 7.4 percentage points ( p   〈  0.001) and QMFT scores increased by 9.2 percentage points ( p  = 0.006). Muscle strength scores seemed to remain stable. Results on lung function were more variable. Patients’ individual data show that the proportion of patients who stabilized or improved during treatment ranged between 56 and 69% for lung function outcomes and between 71 and 93% for muscle strength and muscle function outcomes. Conclusions We report a positive effect of ERT in patients with childhood Pompe disease at group level. For some patients, new or personalized treatments should be considered.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-018-0166-3
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2006875-X
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  • 5
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    Diffusion tensor imaging of the brain in Pompe disease
    Springer Science and Business Media LLC ; 2023
    In:  Journal of Neurology Vol. 270, No. 3 ( 2023-03), p. 1662-1671
    Details
    In: Journal of Neurology, Springer Science and Business Media LLC, Vol. 270, No. 3 ( 2023-03), p. 1662-1671
    Abstract: Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, while brain involvement in late-onset patients is not fully elucidated. To study the underlying microstructure of white matter, we acquired structural (T1, T2, FLAIR) and diffusion tensor imaging (DTI) of the brain in 12 classic infantile patients (age 5–20 years) and 18 late-onset Pompe patients (age 11–56 years). Structural images were scored according to a rating scale for classic infantile patients. Fractional anisotropy (FA) and mean diffusivity (MD) from classic infantile patients were compared to a reference population, using a Wilcoxon signed-rank, one sample test. Effect sizes (Hedges’ G) were used to compare DTI metrics across different tracts. For late-onset patients, results were compared to (reported) tractography data on normal aging. In classic infantile patients, we found a significant lower FA and higher MD ( p   〈  0.01) compared to the reference population. Large-association fibers were most severely affected. Classic infantile patients with advanced white matter abnormalities on structural MRI showed the largest deviations from the reference population. FA and MD were similar for younger and older late-onset patients in large WM-association fibers. We conclude that, while no deviations from typical neurodevelopment were found in late-onset patients, classic infantile Pompe patients showed quantifiable, substantially altered white matter microstructure, which corresponded with disease stage on structural MRI. DTI holds promise to monitor therapy response in future therapies targeting the brain.
    Type of Medium: Online Resource
    ISSN: 0340-5354 , 1432-1459
    URL: Article
    DOI: 10.1007/s00415-022-11506-z
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 1421299-7
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  • 6
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    PAS‐positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease
    Wiley ; 2010
    In:  Journal of Inherited Metabolic Disease Vol. 33, No. 2 ( 2010-04), p. 133-139
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 33, No. 2 ( 2010-04), p. 133-139
    Abstract: Screening of blood films for the presence of periodic acid‐Schiff (PAS)‐positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown. We collected peripheral blood films from 65 untreated Pompe patients and 51 controls. Lymphocyte vacuolization was quantified using three methods: percentage vacuolated lymphocytes, percentage PAS‐positive lymphocytes, and a PAS score depending on staining intensity. Diagnostic accuracy of the tests was assessed using receiver operating characteristic (ROC) curves. All three methods fully discerned classic infantile patients from controls. The mean values of patients with milder forms of Pompe disease were significantly higher than those of controls, but full separation was not obtained. The area under the ROC curve was 0.98 for the percentage vacuolated lymphocytes (optimal cutoff value 3; sensitivity 91%, specificity 96%) and 0.99 for the percentage PAS‐positive lymphocytes and PAS score (optimal cutoff value 9; sensitivity 100%, specificity 98%). Our data indicate that PAS‐stained blood films can be used as a reliable screening tool to support a diagnosis of Pompe disease. The percentage of PAS‐positive lymphocytes is convenient for use in clinical practice but should always be interpreted in combination with other clinical and laboratory parameters.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-009-9027-4
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2010
    detail.hit.zdb_id: 2006875-X
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  • 7
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    Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience
    Springer Science and Business Media LLC ; 2021
    In:  European Journal of Human Genetics Vol. 29, No. 3 ( 2021-03), p. 434-446
    Details
    In: European Journal of Human Genetics, Springer Science and Business Media LLC, Vol. 29, No. 3 ( 2021-03), p. 434-446
    Abstract: Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes. The biochemical diagnosis is based on GAA activity assays in dried blood spots, leukocytes, or fibroblasts. Diagnosis can be complicated by the existence of pseudodeficiencies, i.e., GAA variants that lower GAA activity but do not cause Pompe disease. A large-scale comparison between these assays for patient samples, including exceptions and borderline cases, along with clinical diagnoses has not been reported so far. Here we analyzed GAA activity in a total of 1709 diagnostic cases over the past 28 years using a total of 2591 analyses and we confirmed the clinical diagnosis in 174 patients. We compared the following assays: leukocytes using glycogen or 4MUG as substrate, fibroblasts using 4MUG as substrate, and dried blood spots using 4MUG as substrate. In 794 individuals, two or more assays were performed. We found that phenotypes could only be distinguished using fibroblasts with 4MUG as substrate. Pseudodeficiencies caused by the GAA2 allele could be ruled out using 4MUG rather than glycogen as substrate in leukocytes or fibroblasts. The Asian pseudodeficiency could only be ruled out in fibroblasts using 4MUG as substrate. We conclude that fibroblasts using 4MUG as substrate provides the most reliable assay for biochemical diagnosis and can serve to validate results from leukocytes or dried blood spots.
    Type of Medium: Online Resource
    ISSN: 1018-4813 , 1476-5438
    URL: Article
    DOI: 10.1038/s41431-020-00752-2
    RVK:
    XA 10000
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2021
    detail.hit.zdb_id: 2005160-8
    SSG: 12
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  • 8
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    Hearing in adults with Pompe disease
    Wiley ; 2012
    In:  Journal of Inherited Metabolic Disease Vol. 35, No. 2 ( 2012-03), p. 335-341
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 35, No. 2 ( 2012-03), p. 335-341
    Abstract: Hearing loss has been recognized as an important cause of morbidity in infants with Pompe disease, a metabolic disorder caused by deficiency of acid α‐glucosidase. It is unknown whether hearing is also affected in adult Pompe patients. We have studied the prevalence, severity, and type of hearing loss in 58 adult patients using tympanometry and pure‐tone audiometry. Compared to normative data (International Organisation for Standardisation standard 7029), 72% of patients had impaired hearing thresholds at one or more frequencies in at least one ear. All measured frequencies were equally affected. All patients had a sensorineural type of hearing loss, pointing to cochlear or retrocochlear pathology. Categorised according to the standards of the World Health Organisation 21% of patients had a clinically relevant hearing loss (16% slight, 3% moderate, 2% profound). Though this suggests that hearing loss occurs in a considerable number of patients with Pompe disease, this prevalence is similar to that in the general population. Therefore, we conclude that hearing loss is not a specific feature of Pompe disease in adults.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Article
    DOI: 10.1007/s10545-011-9396-3
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2012
    detail.hit.zdb_id: 2006875-X
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  • 9
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    Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
    Wiley ; 2023
    In:  Journal of Inherited Metabolic Disease Vol. 46, No. 1 ( 2023-01), p. 101-115
    Details
    In: Journal of Inherited Metabolic Disease, Wiley, Vol. 46, No. 1 ( 2023-01), p. 101-115
    Abstract: Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, including dysregulation of cytoplasmic glycogen metabolism, are suspected to modulate the disease course. In this study, performed in mice and patient biopsies, we found elevated protein levels of enzymes involved in glucose uptake and cytoplasmic glycogen synthesis in skeletal muscle from mice with Pompe disease, including glycogenin (GYG1), glycogen synthase (GYS1), glucose transporter 4 (GLUT4), glycogen branching enzyme 1 (GBE1), and UDP‐glucose pyrophosphorylase (UGP2). Expression levels were elevated before the loss of muscle mass and function. For first time, quantitative mass spectrometry in skeletal muscle biopsies from five adult patients with Pompe disease showed increased expression of GBE1 protein relative to healthy controls at the group level. Paired analysis of individual patients who responded well to treatment with enzyme replacement therapy (ERT) showed reduction of GYS1, GYG1, and GBE1 in all patients after start of ERT compared to baseline. These results indicate that metabolic changes precede muscle wasting in Pompe disease, and imply a positive feedforward loop in Pompe disease, in which lysosomal glycogen accumulation promotes cytoplasmic glycogen synthesis and glucose uptake, resulting in aggravation of the disease phenotype.
    Type of Medium: Online Resource
    ISSN: 0141-8955 , 1573-2665
    URL: Issue
    URL: Article
    DOI: 10.1002/jimd.v46.1
    DOI: 10.1002/jimd.12560
    RVK:
    YC 6270
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2006875-X
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  • 10
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    Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease
    Ovid Technologies (Wolters Kluwer Health) ; 2019
    In:  Neurology Vol. 93, No. 19 ( 2019-11-05), p. e1756-e1767
    Details
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 93, No. 19 ( 2019-11-05), p. e1756-e1767
    Abstract: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. Methods In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-controlled clinical trial with ERT in late-onset Pompe disease ( NCT00158600 ) or its extension ( NCT00455195 ) in 2005 to 2008. Main outcomes were walking ability (6-minute walk test [6MWT]), muscle strength (manual muscle testing using Medical Research Council [MRC] grading), and pulmonary function (forced vital capacity [FVC] in the upright and supine positions), assessed 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 on ERT was 9.8 years (interquartile range [IQR] 8.3–10.2 years). At the group level, baseline 6MWT was 49% of predicted (IQR 41%–60%) and had deteriorated by 22.2 percentage points (pp) at the 10-year treatment point ( p 〈 0.001). Baseline FVC upright was 54% of predicted (IQR 47%–68%) and decreased by 11 pp over 10 years ( p 〈 0.001). Effects of ERT on MRC sum score and FVC supine were similar. At the individual level, 93% of patients had initial benefit of ERT. Depending on the outcome measured, 35% to 63% of patients had a secondary decline after ≈3 to 5 years. Still, at 10 years of ERT, 52% had equal or better 6MWT and/or FVC upright compared to baseline. Conclusions The majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable. Classification of evidence This study provides Class IV evidence that for the majority of adults with Pompe disease, long-term ERT positively affects, or slows deterioration in, muscle strength, walking ability, and/or pulmonary function.
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    URL: Article
    DOI: 10.1212/WNL.0000000000008441
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
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