Blog Archives
DMD: a CRISPR / Cas 9 approach for an effective treatment of muscles using stem cells
American researchers have developed an approach to genomic editing of the DMD gene targeting muscle stem cells using the CRISPR / Cas 9 system associated with an AAV vector. When the product is injected into mdx mice with Duchenne muscular dystrophy, the researchers showed the existence of muscle fibers that produced dystrophin. mdx mice receiving … [Read more]
A prospective real-life study confirms safety and efficacy of quadrivalent HPV vaccine in young patients with juvenile dermatomyositis
Dermatomyositis belongs to the family of inflammatory myopathies. It is an autoimmune disease with muscle and skin expression associated with vasculopathy. In children, its disease-modifying treatment combines corticosteroids and immunosuppressants. A Brazilian team carried out a prospective multicenter study including 42 patients with juvenile dermatomyositis (JDD), aged 9 to 20 years, without selective criterion of … [Read more]
SRP-5051, an antisense oligonucleotide of the PPMO type, would be more effective at a lower dose than etetplirsen for exon 51 skipping in DMD
Sarepta Therapeutics communicated on December 7, 2020 the preliminary results of an international phase II trial (not in France) (MOMENTUM trial) which evaluates SRP-5051 in Duchenne muscular dystrophy. SRP-5051 is a new generation antisense oligonucleotide combining a peptide with the antisense oligonucleotide PPMO (Peptide phosporodiamidate morpholino oligomer). He is targeting exon 51 skipping in DMD. … [Read more]
Description of a large Brazilian cohort of type IV SMA
Spinal muscular atrophy (SMA) is a degenerative motor neuron disease. There are several types depending on the age of onset and the best motor function achieved. Type IV SMA is the rarest, often underdiagnosed, and later form with symptoms beginning at the age of 18. A clinical, neurophysiological and radiological study of a 20 patient-cohort … [Read more]
European and American experts update their recommendations on myasthenia gravis
Disease of the neuromuscular junction, myasthenia gravis (MG) is often associated with thymus defedts (hyperplasia, thymoma). It is characterized by fluctuating muscle weakness, which is aggravated by exertion. In 40 to 50% of cases, its first manifestations in adults only concern eyes (ptosis, diplopia). Therapeutic research in MG is very intense. Based on the most … [Read more]
Epicatechin appears to be of short-term benefit in Becker’s myopathy
In dystrophinopathies, loss of dystrophin leads to dysfunction of the mitochondria, resulting in, among other things, increased inflammation, decreased activation of satellite cells and worsened clinical phenotype. Epicatechin is an antioxidant from the flavonoid family that mimics the effects of aerobic exercise and may therefore induce mitochondria biogenesis. A pilot study in people with heart … [Read more]
Large European study provides new phenotype-genotype correlations in sarcoglycanopathies
Sarcoglycanopathies are rare myopathies belonging to the clinically and genetically very heterogeneous group of girdle muscular dystrophies (LGMD for limb girdle muscular dystrophy). Described in the 1990s following the breakdown of the protein complex linked to dystrophin, they are four in number depending on the type of sarcoglycan involved: LGMDR3 linked to α-sarcoglycan, LGMDR4 linked … [Read more]
Fifteen American experts agree on drugs useful for treating muscle damage in DMD
A rare genetic disease, Duchenne muscular dystrophy (DMD) mainly affects boys. It results from pathogenic mutations in the DMD gene which encodes dystrophin, a protein normally present in skeletal muscles, but also in other tissues (heart, brain, etc.). DMD thus results in motor, respiratory, cardiac and sometimes cognitive impairment. Major agreements on corticosteroid therapy … [Read more]
Telethon 2020: 58 290 120 euros!
At the end of the television broadcast, the counter of the 2020 Telethon shows 58 290 120 euros. Despite the health crisis, which led to the cancellation of a very large number of events in towns and villages, the French people responded positively to this extraordinary Telethon: the one presenting the greatest victories of its … [Read more]
Spinraza® in type 0 SMA: a case study
Type 0 SMA is the most severe form of SMA. It is characterized by the appearance of prenatal symptoms such as reduced movement of the foetus. At birth, severe clinical signs (hypotonia, weakness, retractions, difficulty feeding, respiratory failure, etc.) complete the clinical features. Given the severity of this form of SMA, should these infants be … [Read more]
