Pompe disease
RSS feedA model to predict the distance covered during the 6MWT in Pompe disease
Researchers from the Laboratory of Physiology and Neuromuscular Evaluation at the Institute of Myology have developed and validated predictive models for the performance of the 6-minute walk test (6MWT) in Pompe disease, using simpler, less demanding tests. In fact, the 6MWT, which is commonly used to assess functional capacity in neuromuscular diseases, can prove difficult … [Read more]
Real-life pharmacovigilance identifies unreported side effects of eculizumab and alglucosidase alpha
Two Chinese teams looked at the real-life side-effects of eculizumab in the treatment of myasthenia and alglucosidase alfa in the treatment of Pompe disease. Analysis of data from the FDA’s pharmacovigilance system, FAERS (FDA Adverse Event Reporting System), revealed : 46,316 side-effect reports for eculizumab between 2007 and 2023, grouped under 461 preferred terms; 4,326 … [Read more]
New European recommendations for Pompe disease
The European Reference Network for Metabolic Diseases (MetabERN) has drawn up new recommendations for Pompe disease, the most common muscular glycogenosis: experts in the field and members of MetabERN have analysed the recent literature on the subject, focusing on the results of various therapeutic trials, a rigorous methodology was used to create a standardised database … [Read more]
Bulbar impairment in Pompe’s disease better described
Thanks to the national Pompe disease registry, French clinicians are now describing more precisely the bulbar impairment and its repercussions in Pompe disease. Out of 100 patients with the late form of the disease followed in 17 French hospitals : 18% had macroglossia and 11% atrophy of the tongue. 32% had swallowing problems associated with … [Read more]
Proof of concept for base editing in Pompe disease
Base editing is a new genomic editing technique based on the CRISPR-Cas9 system, which makes it possible to modify just one target nucleotide in a gene. To demonstrate its value in Pompe disease, American researchers identified three mutations in the GAA gene that could be corrected using this approach and tested it on cells taken … [Read more]
Changes in screening criteria for late-onset Pompe disease in China
An initial screening campaign for late-onset Pompe disease (LOPD) in China in 2022 showed, as a warning sign, a predominance of respiratory involvement and less frequent hyperCKaemia. A new campaign was carried out on 726 patients, with an average age of 37.6, including 96 children under 14: 51.1% presented with hyperCKaemia, 57.9% with limb-girdle muscular … [Read more]
A promising ex vivo gene therapy for Pompe disease
International researchers have developed a lentivirus-based gene therapy which they have tested in a mouse model of Pompe disease: the lentiviral vector is used to incorporate the drug gene into the host genome, in this case the mouse model of Pompe disease, The target tissue was haematopoietic stem cells, the efficacy in producing the enzyme … [Read more]
European recommendations for late-onset Pompe disease summarised by the three-S rule
The European consortium for Pompe disease has updated its recommendations on enzyme replacement therapy (ERT) for this metabolic myopathy. The considerable hindsight now available on this treatment, its potential benefits and its real-life results were taken into account, as was the arrival of alternative (and/or new-generation) therapies. Three topics in particular were addressed by the … [Read more]
Cipaglucosidase alfa and miglustat in Pompe disease: two-year data
Cipaglucosidase alfa, or Pombiliti®, is a recombinant enzyme being tested in Pompe disease in combination with miglustat (Opfolda®). The combination of the two drug candidates was evaluated in the phase III PROPEL trial involving 118 patients with the late form of the disease. Following an initial one-year phase against treatment with Myozyme® in combination with … [Read more]
Real-life follow-up of 29 Pompe disease patients treated with Nexviadyme
Using the French Pompe disease registry, data from 29 patients treated with Nexviadyme after loss of efficacy with Myozyme were analyzed. After at least one year of treatment, the average deterioration in motor skills was reduced, while respiratory impairment did not progress. At individual level, there may be different responses to Nexviadyme: motor or respiratory … [Read more]
