Blog Archives
Vianney, mentor of Telethon 2023, on 8 & 9 December
After Matt Pokora, Soprano and Kev Adams, it’s singer and composer Vianney’s turn to join forces with researchers, families and thousands of volunteers across France in the fight against rare diseases on 8 and 9 December 2023. The ambassador families for the next Telethon reflect the victories won thanks to you, against diseases that were once … [Read more]
Conclusions of a long-term follow-up study in infantile Pompe disease
In an article published in May 2023, a French team retrospectively analysed the outcome of 64 patients with a classic infantile form of Pompe disease diagnosed between 2004 and 2020: 50 patients (78%) received enzyme replacement therapy with alglucosidase alfa, 10 of whom had to stop it because it was ineffective. 37 patients (58%) died … [Read more]
Initial results on the safety of home enzyme replacement 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]
The value of assessing sarcopenia in paediatric patients with neurological pathology
Muscle wasting, or sarcopenia, is most often associated with physiological ageing. In an original experiment, South Korean researchers tried to measure it in children, adolescents and even young adults (up to the age of 25) suffering from various neurological pathologies: 121 patients, including 56 boys, took part in the study, with 72 suffering from cerebral … [Read more]
Institute researchers at the Ottawa NMD 2023 conference
Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Communications : Friday 8 September Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment Giorgia Querin, MD/PhD – Innovative treatments in NMD: the beginning of a new era? Saturday 9 September Session … [Read more]
The French Pompe disease registry turns 18
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease. One hundred and seventy-seven received enzyme … [Read more]
7 September is International Duchenne Muscular Dystrophy Awareness Day
The 10th World Duchenne Muscular Dystrophy Day, on 7 September, is a call to action to break down the physical, social and healthcare barriers faced by the 250,000 people worldwide affected by this disease. With the theme “Duchenne: breaking down the barriers”, the day dedicated to raising awareness of Duchenne muscular dystrophy aims to encourage … [Read more]
Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – June 2023
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare genetic diseases which affect skeletal and cardiac muscle. They primarily occur in males but can also occasionally affect females. DMD manifests as progressive muscle weakness which begins during childhood, while BMD manifests as less severe muscle weakness which appears during childhood or adolescence, or … [Read more]
ERN EURO-NMD webinar, 14th Sept. – Prof. Dr. Anders Oldfors (Sweden)
Mitochondrial Myopathies 14th September 2023 – 4pm Paris time Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) Registration: https://zoom.us/webinar/register/WN_NndKEIeKQDSdxkFvlKWgJw Organised by EURO-NMD in collaboration with ERN-RND.
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]
