Pompe disease
RSS feedOverview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
A new method for assessing treatment efficacy in Pompe disease
To assess the efficacy of enzyme replacement therapy, Dutch researchers and clinicians are proposing a new methodology: the clinical and paraclinical data of 102 patients with Pompe’s disease who had been receiving enzyme replacement therapy for a year were retrospectively analysed, an index, MCID (for minimal clinically important difference), described as the minimal difference producing … [Read more]
Neonatal screening for Pompe disease: a compilation of all existing data
Two American researchers have compiled data from the literature on newborn screening for Pompe disease worldwide: 29 programmes are in place and operational in eight different countries, including the United States and Taiwan, more than 11.6 million newborns have been screened to date, the incidence is 1 case in 18,711 births (i.e. 5.3 cases per … [Read more]
News of enzyme therapy in Pompe disease
Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a new treatment, Nexviadyme®, while Amicus Therapeutics has developed a treatment combining a recombinant enzyme (Pombiliti®) and a chaperone molecule (Opfolda®). Using data from the international registry (more than 300 patients … [Read more]
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia (20), Pompe disease (9), spinal muscular atrophy (8), facioscapulohumeral myopathy (8), Duchenne myopathy (5), Becker myopathy (1) or another neuromuscular disease (53) explored by respiratory polygraphy, nocturnal transcutaneous capnography and … [Read more]
Central nervous system complications in infantile forms of Pompe disease treated
American researchers followed children with early-onset Pompe disease on long-term enzyme replacement therapy (ERT). Six of them developed severe neurological complications: these complications appeared on average 12 years after the start of treatment, they were responsible for epilepsy, hyperreflexia and cognitive-developmental disorders, all suggestive of encephalopathy, which was consistently associated with significant white matter changes, … [Read more]
Initial results on the safety of home enzyme therapy in Pompe disease
A Dutch survey of people with Pompe disease has assessed the safety of administering enzyme replacement therapy at home, a strategy that has been offered in the Netherlands since 2008. The results were published in May 2023: the study analysed data from 116 patients (including 82 with the adult form) receiving a home infusion of … [Read more]
Pompe’s disease: beneficial effect of long-term physical activity, especially if training is personalised
The physical fitness of 19 people with moderate Pompe’s disease who took part in a 12-week personalised training programme in the Netherlands in 2011 was compared with that of 10 similar people, in terms of age and duration of illness. Sixteen were considered active according to WHO criteria: 9 participants continued the 2011 exercise programme, … [Read more]
Clinical biomarkers of gait quality and fall risk in late-onset Pompe disease
Compared with 20 healthy controls, the gait pattern and locomotion performance of 18 people with late-onset Pompe disease were found to be significantly impaired. Hip abductor strength is the main determinant of locomotor performance, gait stability and pelvic stability. Hip flexor strength is critical for knee and hip kinetics during gait. The duration of unipodal … [Read more]
The French experience of intolerance to ERT in certain patients with Pompe disease
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register: just over 10% of … [Read more]
