Management and treatment of glycogenosis type II

Bembi, Bruno; Cerini, E; Danesino, Cesare; Donati, M. A.; Gasperini, Serena; Morandi, Lucia; Musumeci, Olimpia; Parenti, Giancarlo; Ravaglia, Sabrina; Seidita, F.; Toscano, Antonio; Vianello, Andrea

doi:10.1212/wnl.0b013e31818da93f

Cited by 54 publications

(57 citation statements)

References 136 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…PD is a rare and severe genetic disorder inherited in an autosomal recessive mode, with a wide phenotypic variation affecting age groups from infants to adults. Two classical forms of PD-infantile and late-onset-are recognised in the literature, although many cases do not fit the clinical picture for classical disease and are classified as atypical (Kishnani et al 2006;Toscano and Schoser 2013) (Bembi et al 2008). The estimated collective frequency is 1 in 40,000 people, with the infantile form making up one thirds of the cases (Bembi et al 2008).…”

Section: Introductionmentioning

confidence: 99%

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

Milverton

Newton

Merlin

2018

J Inherit Metab Dis

View full text Add to dashboard Cite

Aim The objective of this research was to determine the effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease (patients aged 2 to 18 years at symptom onset) by systematic review. Methods A systematic search was conducted according to a protocol designed a priori of bibliographic databases and search engines. Studies selected according to pre-specified criteria were assessed for quality and risk of bias using standardised appraisal tools. Data were reported according to PRISMA conventions (Liberati et al. in PLoS Med 6:e1000100, 2009) and synthesised using GRADE (Guyatt et al. in J Clin Epidemiol 64:380-382, 2011). Results Of 2537 titles screened, 1 case series and 16 case reports met the inclusion criteria. No studies reported on the impact of enzyme replacement therapy on the survival of juvenile-onset patients. Low level evidence found that respiratory function may improve or be maintained in the early months of therapy. Improved muscle function in the first 6 to 12 months was also suggested, but results may be confounded by natural development. Patients with less severe baseline status and treated at a younger age showed more response than patients with more severe baseline status, treated as adults. Conclusions Interpretation of the findings was hindered by the lack of good quality evidence. The available data suggests that some JOPD patients may benefit in the short term from ERT through improved muscle strength and a reduced need for assisted ventilation. A focus by clinicians on improved and more consistent evidence collection, and use of study designs tailored to rare conditions, would provide more definitive results.

show abstract

Section: Introductionmentioning

confidence: 99%

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

Milverton

Newton

Merlin

2018

J Inherit Metab Dis

View full text Add to dashboard Cite

show abstract

“…aspx; Bembi et al 2008). In adult patients, observations regarding the nutritional status only included changes of body mass index under ERT (van der Beek et al 2009;Ravaglia et al 2010a;Ravaglia et al 2010b;Kobayashi et al 2010;Papdimas et al 2010;Bernstein et al 2010;Regnery et al 2012;Sch€ uller et al 2012).…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2014

View full text Add to dashboard Cite

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.

show abstract

“…Pneumonia frequency in ADVANCE reflects age-related susceptibility (overall incidence in hospitalized children has been reported as 15.7/10,000 and as 62/10,000 in those under 2 years old 29 ); the effects of Pompe disease on respiratorymuscle function, cough, and pulmonary hygiene; 30 and the vulnerability of invasively ventilated patients to infection. In the Pompe Registry (Sanofi Genzyme, data on file), 109 IOPD patients (58.6% of those with data) and 312 LOPD patients (29.3% of those with data) have ever had pneumonia.…”

Section: Discussionmentioning

confidence: 99%

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Hahn

Kronn

Leslie

et al. 2018

Genetics in Medicine

View full text Add to dashboard Cite

Management and treatment of glycogenosis type II

Cited by 54 publications

References 136 publications

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

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

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Contact Info

Product

Resources

About