Duchenne muscular dystrophy
RSS feedPositive phase I/II results for brogidirsen in Duchenne muscular dystrophy
Brogidirsen is a dual-targeting phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide composed of two sequences targeting exon 44 of the DMD gene in Duchenne muscular dystrophy. A Japanese phase I/II clinical trial involving six patients aged between 4 and 13 years demonstrated its ability to partially restore dystrophin expression. Of the six patients, five had a … [Read more]
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein essential for muscle function, dystrophin. There is currently no effective treatment, but gene therapy trials using micro-dystrophins have been underway for several years. These strategies, targeting both skeletal and cardiac muscle, are applicable to all … [Read more]
Impaired social cognition in DMD
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social cognitive abilities. The patients performed less well on items concerning theory of mind and affect recognition, both in the presence and absence of another cognitive deficit. Only two previous studies … [Read more]
Keys to understanding the risk of post-gene therapy myositis in DMD
The teams responsible for developing a gene therapy (GT) mediated by a recombinant adenovirus-associate for Duchenne muscular dystrophy (DMD), delandistrogene moxeparvovec (a gene therapy authorised in the United States under the name Elevidys®), are reporting the results of immunological studies carried out following the occurrence of undesirable side-effects: two cases of severe myositis occurred in … [Read more]
Lack of benefit of tamoxifen confirmed in non-marching DMD patients
The results of the second part of the tamoxifen trial focused on non-marching Duchenne muscular dystrophy (DMD) patients, aged between 10 and 16 years, who had not received corticosteroid treatment for at least six months. In this group, 8 participants received tamoxifen (20 mg/day) and 6 a placebo for one year. The international trial included … [Read more]
A meta-analysis of the efficacy and safety of vamorolone in DMD
German clinicians have compiled data from the literature in order to assess the efficacy and safety of vamorolone, a new-generation synthetic corticosteroid recently authorised in Europe and the United States to treat Duchenne muscular dystrophy (DMD): data from 210 DMD patients treated with vamorolone at a dose of 2 mg/kg/day or 6 mg/kg/day were collected … [Read more]
The first digital functional assessment tool validated in DMD
The international consortium of researchers, including experts from the Institute of Myology, which developed SV95C, a digital parameter for the functional evaluation of Duchenne muscular dystrophy (DMD), has announced its adoption by the European Medicines Agency (EMA) as a primary endpoint in therapeutic trials: this assessment is based on the analysis of information transmitted by … [Read more]
DMD: a summary of the factors correlated with cardiac damage
A review of the literature on predictors of cardiac involvement in Duchenne muscular dystrophy included 33 articles concerning 9,232 patients. Most (76%) were retrospective studies, 15% randomised studies, 6% prospective cohort studies and 3% case series. Cardiac treatments were significantly associated with preserved systolic ejection fraction, with a moderate to high level of evidence. Mutations … [Read more]
Viltolarsen slows the decline in respiratory function in walking and non-walking patients
A drug targeting exon 53 skipping of the DMD gene authorised in the United States and Japan, viltolarsen was evaluated for 48 weeks (80mg/kg/week) in 10 walking and 10 non-walking DMD patients aged 8 and over, in the Galactica53 trial. The results compared with those of untreated DMD patients from an external cohort showed that … [Read more]
DMD: French recommandations on corticoids
On the basis of a review of the literature, the Filnemus neuromuscular rare diseases health network and the French Paediatric Neurology Society (SFNP), including clinicians from I-Motion, have published recommendations to harmonise practices for prescribing corticosteroid therapy and monitoring associated adverse effects in children with Duchenne muscular dystrophy. With regard to the long-term use of … [Read more]
