Duchenne muscular dystrophy
RSS feedVamorolone (Agamree®) authorised in the USA for DMD from the age of 2; a decision expected in Europe soon
Vamorolone is a “dissociative” synthetic steroid developed by Santhera and ReveraGen for Duchenne muscular dystrophy, as an anti-inflammatory treatment alternative to conventional corticosteroids. The FDA has granted marketing authorisation for Agamree® (vamorolone) in DMD patients from the age of 2 (drinkable suspension, 40 mg/ml). Four studies of vamorolone in DMD patients aged between 4 and … [Read more]
New tools for assessing the follow-up of two forms of muscular dystrophy
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use of functional scores: researchers report, in association with Duchenne muscular dystrophy (DMD) patient associations, the development of an upper limb function scale centred on the needs and feelings of patients … [Read more]
Right heart involvement in DMD is a poor prognostic factor
A study of the respiratory and systolic functions of the right ventricle on Doppler echo in 90 young men with Duchenne muscular dystrophy (DMD), with a median age of 27.5 years and a median vital capacity of 10% of theoretical, showed : right ventricular systolic impairment in 46 (51%); the presence of left ventricular damage … [Read more]
DMD: Canadian respiratory data in real life
Using data from the Canadian Neuromuscular Disease Registry, collected by 36 centres, a cross-sectional study of real-life respiratory data from 323 patients with Duchenne muscular dystrophy (DMD), aged between 2 and 36 years, showed that : almost one-fifth (19.5%) of 14-16 year olds were on ventilatory support, a proportion which rises to 69.2% at the … [Read more]
Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD
A European consortium of researchers has studied the biological and molecular characteristics of cardiac fibroblasts generated from induced pluripotent stem cells (IPSCs) from Duchenne muscular dystrophy (DMD) patients and control subjects: these supporting tissue cells do not express full-length dystrophin like muscle fibres, these fibroblasts show profound changes in their biochemical profiles, with activation of … [Read more]
How scoliosis and scoliosis surgery affect lifespan in DMD
A retrospective study carried out between January 2000 and August 2022 by Scottish surgeons on 113 patients with Duchenne muscular dystrophy (DMD) showed that 43 of them (38%) had posterior spinal fusion for scoliosis (33) or kyphoscoliosis (10). The age at surgery ranged from 10 years 9 months to 18 years 3 months, with a … [Read more]
DMD and newborn screening: results of a two-year American pilot programme
An American team conducted a two-year pilot study in several New York hospitals to assess the feasibility and benefits of newborn screening for Duchenne muscular dystrophy (DMD): 36,781 newborns were included in this study after parental consent. Initially, their blood samples were tested for creatine kinase (CK). 24 boys and 17 girls showed elevated levels … [Read more]
DMD: the EMA’s CHMP has ruled against the marketing authorisation and the renewal of the conditional marketing authorisation for translarna
Translarna (ataluren), developed by the laboratory PTC Therapeutics, has until now benefited from a conditional marketing authorisation for Duchenne muscular dystrophy, granted by the EMA for patients with a “nonsense” mutation of the DMD gene, aged 2 years and over, who are able to walk. On 15 September 2023, the CHMP recommended that this marketing … [Read more]
DMD: positive results from Viltolarsen confirmed over four years
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years in May 2020 showed that it induced a significant increase in the overall level of dystrophin in the muscle, accompanied by functional improvement after six months of treatment. In this … [Read more]
Dystrophinopathies: a UK consensus on the cardiological management of boys and women with DMD mutations
In order to reduce regional disparities in cardiological care for boys and female transmitters with dystrophinopathy, a working group (adult and child cardiologists, neuromuscular physicians and nurses, patient representatives), has published recommendations for follow-up and preventive care to be implemented at diagnosis and curative care once heart failure is detected. This consensus applies to children … [Read more]
