Blog Archives
The first prenatal treatment of SMA with risdiplam in the United States
Richard Finkel’s team (Memphis) has published the first case report of in utero treatment with risdiplam (Evrysdi®) for SMN1-related proximal spinal muscular atrophy, or SMA : an amniocentesis, carried out because of a history of the disease in the siblings, revealed in one foetus an absence of SMN1 with 2 copies of SMN2, i.e. type … [Read more]
LGMD and Pompe disease in the NGS era
Next-generation sequencing (NGS) performed between 2017 and 2018 in 2,372 patients from 21 countries with recessive limb-girdle muscle weakness revealed that: 225 had limb-girdle myopathy and 36 had Pompe disease; dysferlinopathy (LGMD-R2) was the most common (26.44%), calpainopathy (LGMD-R1) came second (23.37%), Pompe disease third (13.8%) and sarcoglycanopathy (LGMD-R6) was the rarest (a single case … [Read more]
Is the PI3K-AKT-MTORC1 signalling pathway a therapeutic target in mitochondrial diseases?
In cells from patients suffering from mitochondrial myopathy and carrying the m.3243A>G mutation in the MT-TL1 mitochondrial gene, in which the PI3K-AKT-MTORC1 signalling pathway is abnormally activated, researchers looked at the effects of inhibiting this signalling pathway (with rapamycin, LY294002, etc.) and showed : restoration of mitophagy and a reduction in mutational load ; signs … [Read more]
The manifestations of type 6 nemalin myopathy are modest but have a major impact on patients
A Dutch team has studied 24 patients with nemalin myopathy type 6, linked to mutations in KBTBD13 and the most prevalent in the Netherlands. Since childhood, patients have mainly suffered from muscle weakness, slowness of movement, muscle stiffness, difficulty running, fatigue and myalgia. Falls were reported by 71% of patients; over a prospective three-month period, … [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]
Cognitive and cerebral alterations found in women with DMD gene anomalies
While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well as structural lesions in certain brain regions. The study included 33 women with DMD gene defects and 33 healthy women matched for age, sex and education. All underwent 3T brain … [Read more]
Late dysferlinopathy presenting as generalized permanent myalgia
The team at the Institute of Myology (Paris) reports the observation of a 52-year-old woman suffering for four years from permanent generalized muscle pain, aggravated by physical activity and associated with joint pain. She also complained of fatigue in the upper limbs, with difficulty holding her arms up. Muscle biopsy revealed a marked decrease in … [Read more]
GNE myopathy and 6′-sialyllactose: mixed results
A South Korean team conducted a trial of 6′-sialyllactose (6SL) in GNE myopathy for almost two years (96 weeks) in 20 participants aged between 24 and 58 with an average disease duration of 8.6±5.1 years: seven participants received 3g/d of 6SL (low dose), seven others 6g/d (high dose) and six others placebo for three months … [Read more]
DREAMS webinar, 28 Feb.: A. Mejat (France), E. Malfatti (France), G. Perret (France)
Clinical Trials in Focus: Innovations and Patient Perspectives in Rare Diseases Friday 28 February 2025 – 12:00 PM – 1:30 PM (CET) Alexandre Mejat (AFM-Téléthon) • The Need for Innovation in Clinical Trial Methodologies for Muscular Disorders Edoardo Malfatti (AP-HP) • Overview of Outcome Mesures in Neuromuscular Disorder Clinical Trials Gérald Perret (Généthon) • Lessons … [Read more]
The main causes of death in Steinert disease
Researchers have examined the causes of death in 1,021 patients with Steinert’s disease (or myotonic dystrophy type 1) in the United Kingdom. – The main causes of death were cardiac (rhythm and conduction disorders) and respiratory (respiratory failure, inhalation pneumonitis, etc.), which are known complications of the disease. – Although deaths from cancer appear to … [Read more]
