Blog Archives
Prevalence of epilepsy in dystrophinopathies revised downwards
According to a retrospective study carried out in Spain on data from 416 patients with Duchenne muscular dystrophy, Becker muscular dystrophy or asymptomatic hyperCKemia : the prevalence of epilepsy was 1.4%, much lower than estimated by various previous studies (3.1% to 7.9%), but slightly higher than in the general population (0.5 to 1% in children … [Read more]
Characterisation of Ku-positive myositis reveals a degree of heterogeneity
An international consortium, including clinicians from the Institute of Myology, pooled clinical and biological data from patients suffering from a rare form of inflammatory myopathy, Ku-positive myositis, and compared them with existing data for autoimmune necrotising myopathy (AINM): 26 muscle biopsies (anti-Ku-positive) from a cohort of 50 Japanese patients and 10 German patients investigated for … [Read more]
Opto-acoustic imaging for spinal muscular atrophy
German researchers have applied a technology designed to explore, non-invasively, patients suffering from proximal spinal muscular atrophy linked to the SMN1 gene (SMA) and benefiting from innovative therapies: opto-acoustic imaging is a non-invasive technique which enables variations in signal at the level of muscle tissue to be measured in three dimensions, depending on its trophicity … [Read more]
A Europe-wide analysis of Zolgensma® side effects
Between January 2019 and September 2023, the pharmacovigilance database of the European Medicines Agency collected 661 individual reports of adverse reactions linked to Zolgensma®, representing a total of 2744 adverse reactions. In more than 92% of cases, only Zolgensma® was suspected. More than 50% of adverse reactions were classified as serious: 21% resulted in hospitalisation … [Read more]
TRAPPC11 diseases reviewed
On the occasion of the description of a Mexican case with an anomaly in the gene encoding the TRAPPC11 complex, a team from Mexico City reviewed the 54 cases of TRAPPC11-pathies published to date: the muscle involvement was of the slowly progressive limb-girdle muscular dystrophy type (LGMDR18) with or without developmental delay and/or cognitive difficulties … [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]
ERN EURO-NMD webinar, Prof. Dr. Annemieke Aartsma-Rus (The Netherlands)
Genetic therapies and therapy developments for muscular dystrophies (DMD, LGMD) Wednesday 29 May 2024 – 16:00 – 17:00 Paris time Prof. Dr. Annemieke Aartsma-Rus (Leiden University Medical Center, The Netherlands) Gene Therapy webinar series Organised by EURO-NMD in collaboration with ERN-RND.
Results of a phase I gene therapy trial in giant axon neuropathy
The dose escalation trial evaluated the effects of a single intrathecal injection of four escalating doses of scAAV9/JeT-GAN in 14 patients over the age of six with GAN-related giant axon neuropathy. There were very few serious side-effects attributable to the treatment during the trial’s average follow-up of five and a half years. One of the … [Read more]
The importance of developing strategies to manage altered facial expression in FSH
Facial impairment is present in 75% of people with facioscapulohumeral muscular dystrophy (FSHD), and represents a significant psychosocial burden for a third. Given this distress, a team of Dutch clinicians looked at the treatments and psychosocial interventions used in FSHD and other pathologies where facial expression is impaired, such as facial paralysis, Moebius syndrome, myotonic … [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]
