Guidelines for the diagnosis, treatment and clinical monitoring of patients with juvenile and adult Pompe disease

Abstract

Pompe disease (PD) is a potentially lethal illness involving irreversible muscle damage resulting from glycogen storage in muscle fiber and activation of autophagic pathways. A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®). The need to organize a diagnostic flowchart, systematize clinical follow-up, and establish new therapeutic recommendations has become vital, as ERT ensures greater patient longevity. A task force of experienced clinicians outlined a protocol for diagnosis, monitoring, treatment, genetic counseling, and rehabilitation for PD patients. The study was conducted under the coordination of REBREPOM, the Brazilian Network for Studies of PD. The meeting of these experts took place in October 2013, at L’Hotel Port Bay in São Paulo, Brazil. In August 2014, the text was reassessed and updated. Given the rarity of PD and limited high-impact publications, experts submitted their views.

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience

“…Although no previously published guidelines suggest that pre‐symptomatic patients should be treated, some indicate that treatment can be considered in pre‐symptomatic patients with abnormal muscle imaging or biopsy results . Although there is currently no evidence to show whether pre‐symptomatic patients benefit from treatment, and it has been shown that they may remain pre‐symptomatic for years , such patients may already be losing muscle mass, which they may not be able to regain.…”

“…Several national practices and published recommendations do include some criteria for withdrawing treatment , but none mention the detection of high antibody levels against alglucosidase alfa that counteract the treatment effect as a reason to stop treatment. The effect of antibodies does seem to be much higher in infants than in adults .…”

“…Recommendations for treating and/or managing adult patients with Pompe disease have been composed for several countries , but general European guidelines do not exist. In 2014 the European Pompe Consortium was formed during the 208th European Neuromuscular Centre international workshop.…”

European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience

“…Рекомендации по лечению и / или ведению взрослых пациентов с БП составлены для нескольких стран [18][19][20][21][22][23][24], но общие европейские руководства отсутствуют. В 2014 г. во время работы 208-го Международного семинара по нервно-мышечным болезням в Европейском центре образован Европейский консорциум по БП.…”

Clinical and Technological Dependence Characteristics on a Series of Brazilian Cases with Infantile Onset Pompe Disease in Enzyme Replacement Therapy

“…With residual levels of enzymatic activity (<1%), the clinical manifestations of IOPD can be identified in the first months of life [6]. Major symptoms include hypotonia and muscular weakness, delayed motor development, massive hypertrophic cardiomegaly, macroglossia and variable degrees of hepatomegaly with elevated muscle enzymes; difficult deglutition, causing malnutrition, recurrent aspiration pneumonia and respiratory tract infections are common comorbidities found in IOPD patients [7] [8] [9] [10].…”