4. Cook AL, Kishnani PS, Carboni MP, Kanter RJ, Chen YT, Ansong AK, et al. Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease. Genet Med. 2006;8:313–7. 5. Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, et al. Electrocardiographic response to enzyme replacement therapy for Pompe dise...

Ventilatory aspects in adults with Pompe disease have a major impact on clinical course and quality of live. Treatment with non-invasive ventilation is state of the art for these patients. However, it is well known that the onset of ventilatory symptoms does not strictly correlate with the degree of proximal skeletal muscle involvement. Early signs and symptoms indicating ventilatory insuffi ci...

Background: How the absence of lysosomal enzyme acid α-glucosidase causes hypertrophic cardiomyopathy in Pompe disease is unknown. Results: Pompe patient induced pluripotent stem cell-derived cardiomyocytes have normal autophagic and contractile function, but exhibit a deficit of golgi-based protein glycosylation. Conclusions: Loss of lysosomal glycogen hydrolyzing ability results in protein gl...

s S46 patients will be captured. More investigation into the willingness of these clinics to participate in the CNDR is required. Some evidence exists that incorporation of Pompe disease into the registry might help to facilitate improved relationships between the genetic, metabolic, and specialty neuromuscular clinics across Canada, which may have important impacts beyond the Pompe disease aud...

Pompe disease results from a defi ciency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal glycogen accumulation that impacts cardiac, respiratory and neuromuscular function. Respiratory failure is the leading cause of morbidity and mortality in Pompe patients. AAV vectors expressing GAA are currently being evaluated in a phase I/II study in ventilator-depe...

Based on those guidelines, distinct scenarios will be discussed. Scenario 1: When shall we start treatment in an asymptomatic Pompe patient with hyperCKemia only? Here, most Pompe experts would recommend a wait-and-see strategy with close clinical follow-up every 3 months with functional measures, such as sixminute walking test, lung function tests, and a muscle MRI investigation at least every...

BACKGROUND Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of treatments in orphan diseases and extrapolate effects into the future, alternative models might be needed. The purpose of this study is to develop a conceptual disease model for P...

Pompe disease is a rare disorder producing muscle weakness and progressive impairments in performing daily motor activities, such as walking and standing. Most studies have focused on dysfunctions at cellular level, restricting the examination of gross motor functions to qualitative or subjective rating scales evaluations. With the aim of providing an instrumented quantification of upright stan...

The role of autophagy, a catabolic lysosome-dependent pathway, has recently been recognized in a variety of disorders, including Pompe disease, the genetic deficiency of the glycogen-degrading lysosomal enzyme acid-alpha glucosidase. Accumulation of lysosomal glycogen, presumably transported from the cytoplasm by the autophagic pathway, occurs in multiple tissues, but pathology is most severe i...

CONTEXT Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization. OBJECTIVE Our objective was to determine the prevalence of morphometric vertebral fractures and to evaluate bone mass in adults with late-onset Pompe disease. DESIGN We conducted a multicenter cross-sectional observational s...