The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Laforêt, Pascal; Laloui, K.; Granger, Benjamin; Hamroun, Dalil; Taouagh, Nadjib; Hogrel, Jean‐Yves; David, Olivier; Bouhour, Françoise; Lacour, Arnaud; Salort‐Campana, Emmanuelle; Pénisson-Besnier, I.; Sacconi, Sabrina; Zagnoli, Fabien; Chapon, Françoise; Eymard, B.; Desnuelle, Claude; Pouget, Jean

doi:10.1016/j.neurol.2013.07.002

Cited by 47 publications

(47 citation statements)

References 26 publications

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“…This variant is found on at least one allele in 68–90% of Caucasian patients [16–18]. Data on the spectrum and severity of LOPD patients with c.-32-13T>G variant in homozygosity or compound heterozygosity are emerging.…”

Section: Introductionmentioning

confidence: 99%

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Rairikar

Case

Bailey

et al. 2017

Molecular Genetics and Metabolism

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Objective Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68–90% cases with LOPD and has been presumed to result in “adult” disease in compound heterozygosity, with a few cases with earlier onset and a mild to no phenotype in homozygosity. Our study evaluates newborns with LOPD having IVS variant with a diligent multidisciplinary approach to determine if they have an early presentation. Methods Seven children with LOPD identified by NBS with IVS variant (3 compound heterozygous, and 4 homozygous) were evaluated with clinical, biochemical (CK, AST, ALT, and urinary Glc4), cardiac evaluation, physical therapy (PT), occupational, and speech/language therapy. Results All seven patients demonstrated motor involvement by age 6 months; the three patients with c.-32-13 T>G variant in compound heterozygosity had symptoms as neonates. Patients with c.-32-13 T>G variant in compound heterozygosity had more involvement with persistent hyperCKemia, elevated AST and ALT, swallowing difficulties, limb-girdle weakness, delayed motor milestones, and were initiated on ERT. The patients with c.-32-13T>G variant in homozygosity had normal laboratory parameters, and presented with very subtle yet LOPD specific signs, identified only by meticulous assessments. Conclusion This patient cohort represents the first carefully phenotyped cohort of infants with LOPD with the “late-onset” GAA variant c.-32-13T>G detected by NBS in the USA. It emphasizes not only the opportunity for early detection of skeletal and other muscle involvement in infants with c.-32-13T>G variant but also a high probability of overlooking or underestimating the significance of clinically present and detectable features. It can thus serve as a valuable contribution in the development of evaluation and treatment algorithms for infants with LOPD.

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Section: Introductionmentioning

confidence: 99%

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Rairikar

Case

Bailey

et al. 2017

Molecular Genetics and Metabolism

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“…Juvenile or adult-onset disease occurs after early childhood and manifests in skeletal muscles with a limb-girdle pattern of weakness and diaphragm paralysis. Skeletal muscle weakness in late-onset Pompe disease (LOPD) typically affects lower limbs and axial muscles and results in loss of ambulation and wheelchair dependence 2,3 . Additional insight has been gained from animal models.…”

Section: Introductionmentioning

confidence: 99%

Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction

et al. 2015

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Introduction Pompe disease is a progressive disease that affects skeletal muscles and leads to loss of ambulation. We investigated the activation of the tibialis anterior (TA) in late onset Pompe disease (LOPD) individuals during maximal voluntary contraction (MVC) and evoked involuntary responses. Methods Four LOPD patients and matched control subjects performed MVC of the TA using dorsiflexion and TA evoked responses. Activation of the TA was recorded with surface EMG. Results The Pompe patients exhibited greater power at frequencies below 60 Hz and reduced power above 100 Hz. They exhibited reduced increase in M-wave and prolonged M-wave latency and duration in response to stimulation. Discussion These results provide evidence that LOPD individuals have an altered activation pattern of the TA during maximal contractions. The observed activation pattern may reflect impairments in voluntary command, neuromuscular junction pathology, or compensatory drive due to a reduced number of functional motoneurons.

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“…The main clinical and prognostic features in adult patients with Pompe disease are proximal and axial paresis in the limb girdles and respiratory insufficiency due to glycogen storage in the skeletal muscles (van der Beek et al 2012). ERT was shown to have a beneficial effect on these symptoms and to delay progression of skeletal muscle symptoms in adolescent and adult patients with Pompe disease (Regnery et al 2012;Laforêt et al 2013;G€ ung€ or et al 2013;Schneider et al 2013;de Vries et al 2012;Toscano and Schoser 2013).…”

Section: Introductionmentioning

confidence: 99%

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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The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Cited by 47 publications

References 26 publications

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction

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

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