Blog Archives
SMA with 4 copies of SMN2, a form with infantile onset?
A study of data from 268 patients with 4 copies of the SMN2 gene from the SMArtCARE registry showed : an average age of first symptoms of 6.4 years, 55% of patients present their first symptoms before the age of 3 and almost 95% are symptomatic by the age of 18, 3% have never acquired … [Read more]
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]
