SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

Echaniz‐Laguna, Andoni; Carlier, Robert‐Yves; Laloui, K.; Carlier, Pierre; Salort‐Campana, Emmanuelle; Pouget, Jean; Laforêt, Pascal

doi:10.1002/mus.24653

Cited by 20 publications

(16 citation statements)

References 16 publications

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“…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. It is thus important to obtain more evidence to assess whether such patients would benefit from treatment, but the high drug costs may hamper such studies.…”

Section: Discussionmentioning

confidence: 99%

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

Ploeg

Kruijshaar

Toscano

et al. 2017

Euro J of Neurology

121

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Section: Discussionmentioning

confidence: 99%

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

Ploeg

Kruijshaar

Toscano

et al. 2017

Euro J of Neurology

121

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“…The detection of presymptomatic patients (7.8% of total diagnosis in the last 5 years in our study) could be facilitated in the future due to the increased knowledge on PD and development of miniaturized tests (dried blood spots) for the measurement of GAA activity. This will certainly improve the diagnostic work-up and clinical follow-up of patients (Echaniz-Laguna et al 2015). Moreover, newborn screening (NBS) which is already performed in some countries (Taiwan, USA, Italy…) could also facilitate diagnosis and early treatment.…”

Section: Discussionmentioning

confidence: 99%

Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Semplicini

Létard

Antonio

et al. 2018

J of Inher Metab Disea

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Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a rapidly fatal multisystemic disorder (classic PD, onset < 1 year) to a milder adult onset myopathy. The aims of this study were to characterize the GAA mutations, to establish the disease epidemiology, and to identify potential genotype-phenotype correlations in French late-onset PD patients (onset ≥ 2 years) diagnosed since the 1970s. Data were collected from the two main laboratories involved in PD diagnosis and from the French Pompe registry. Two hundred forty-six patients (130 females and 116 males) were included, with a mean age at diagnosis of 43 years. Eighty-three different mutations were identified in the GAA gene, among which 28 were novel. These variants were spread all over the sequence and included 42 missense (one affecting start codon), 8 nonsense, 15 frameshift, 14 splice mutations, 3 small in-frame deletions, and one large deletion. The common c.-32-13T>G mutation was detected in 151/170 index cases. Other frequent mutations included the exon 18 deletion, the c.525del, and the missense mutations c.1927G>A (p.Gly643Arg) and c.655G>A (p.Gly219Arg). Patients carrying the c.-32-13T>G mutation had an older mean age at onset than patients non-exhibiting this mutation (36 versus 25 years). Patients with the same genotype had a highly variable age at onset. We estimated the frequency of late-onset PD in France around 1/69,927 newborns. In conclusion, we characterized the French cohort of late-onset PD patients through a nationwide study covering more than 40 years.

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“…56 However, others have raised ethical concerns regarding this procedure and treatment guidelines recommend beginning of ERT only in patients with objective signs of the disease. 57,58 Secondly, effectiveness of ERT is dependent on the rhGAA uptake in the skeletal muscles that is limited by a low expression of the cation-independent mannose-6-phosphate receptor (CI-MPR). 59,60 Women seem to benefit more from ERT than males 61 in respect to muscle strength because of a higher dose uptake of alglucosidase per gram of muscle fiber due to their smaller fibers with a higher surface-to-volume ratio.…”

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confidence: 99%

Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability

Schneider¹,

Zierz²

2016

RRED

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Pompe disease, also referred to as glycogenosis type II, is a rare, autosomal recessive disorder that results from the deficiency of the glycogen-degrading enzyme acid α-glucosidase. The classical form presents shortly after birth with muscle hypotonia, cardiac, and respiratory failure resulting in a fatal outcome. The late onset of Pompe disease has a very variable onset and disease presentation that often causes a delayed diagnosis. Until now enzyme replacement therapy with alglucosidase alfa is the only causative therapy option for Pompe patients that can slow down disease progression. However, uncertainty remains about the efficacy regarding survival and quality of life in Pompe patients under this very cost-intensive treatment. This paper provides a systematic review of the literature stressing different aspects of enzyme replacement therapy in infantile and late onset Pompe patients.

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SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

Abstract: Asymptomatic Pompe disease may remain clinically silent for decades, and affected patients should be monitored closely for overt myopathy using clinical examination, PFTs, and muscle MRI to determine when to start ERT.

Cited by 20 publications

References 16 publications

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

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

Late‐onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Profile of alglucosidase alfa in the treatment of Pompe disease: safety, efficacy, and patient acceptability

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