Pompe disease
RSS feedClinical stability in real-world settings following a switch to new enzyme therapies in Pompe disease
Although phase III trials (the COMET and PROPEL trials) have demonstrated the efficacy of next-generation enzyme therapies – avalglucosidase alfa (Nexviadyme®) and cipaglucosidase alfa (Pombiliti®) – in Pompe disease, real-world data remain limited. A prospective study conducted at five centres in Germany, where both treatments are available, analysed data from 39 adults with late-onset Pompe … [Read more]
Improved efficacy of ERT in pediatric forms of Pompe disease due to newborn screening
A growing number of countries, including the United States, have implemented newborn screening for Pompe disease. American clinicians review the cases of children screened and treated with enzyme replacement therapy (ERT) as soon as possible (within 4 weeks): the records of 17 patients diagnosed at birth (infantile form of Pompe disease) who received ERT and … [Read more]
The utility of the national Pompe disease registry in understanding causes of death and comorbidities
The French Pompe disease registry, which includes 200 patients, is an unrivalled source of clinical and biological data that provides a better understanding of the characteristics and progression of this disease: researchers, including clinicians from the Institute of Myology, analysed this data on a sample of 60 patients with late-onset Pompe disease (LOPD) who had … [Read more]
Improvement in cardiac and motor function with gene therapy in infantile-onset Pompe disease
Four infants with Pompe disease received an intravenous injection of GC301, a gene therapy that delivers a codon-optimized gene encoding human acid alpha-glucosidase (GAA) carried by an adeno-associated viral vector serotype 9 (AAV9). After 52 weeks of observation, cardiac measurements, such as left ventricular ejection fraction, improved in three of the infants. Their Hammersmith Infant … [Read more]
A 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]
