Blog Archives
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]
Rozanolixizumab demonstrates some therapeutic potential in systemic MG in phase II trial
The neonatal Fc receptor (or FcRn) protects against degradation of immunoglobulins G, which include the auto-antibodies produced in myasthenia gravis (anti-RACh, anti-MuSK, etc.) and which target the neuromuscular junction. A promising therapeutic avenue in this pathology consists in blocking FcRn, so as to reduce the levels of circulating autoantibodies. Several anti-FcRn are being tested, such … [Read more]
Vamorolone, a new anti-inflammatory, improves motor function in DMD without the side effects of corticosteroids
Vamorolone (VBP15) is a steroid analogue developed by ReveraGen Biopharma, a subsidiary of Santhera Pharmaceuticals. This anti-inflammatory acts like glucocorticoids without having side effects. The intermediate outcomes of the evaluation of vamorolone in a phase II clinical trial lasting 6 months followed by its open label extension which lasted 2 years have just been published … [Read more]
Edasanolexent (CAT-1004), a nonsteroidal anti-inflammatory drug tested in DMD, broke promises: development halts after several clinical trials
On October 26, 2020, the Catabasis pharmaceuticals laboratory announced in a press release the interruption of the clinical program evaluating edasalonexent in Duchenne muscular dystrophy. Edasanolexent is a combination of two bioactive substances, salicylic acid (aspirin) and docosahexaenoic acid, an omega-3 fatty acid. It is thought to act on the NF-KB protein, to decrease inflammation … [Read more]
Myopathy linked to SELENON: an international retrospective study of 132 children and adults specifies the long-term natural history and the severity criteria
An international team of clinicians, including experts from the Institute of Myology (Paris), published in September 2020 a retrospective study of 132 people with SELENON-related myopathy (ex-SEPN1), aged 2 to 58 years with a follow-up of 8 months to 25 years, 69 were diagnosed in France. This is the largest case series of this uncommon … [Read more]
A very low residual amount of dystrophin would be enough to transform DMD into BMD
Duchenne muscular dystrophy (DMD) is characterized by muscle deficit with loss of walking around the age of 12 years. Becker muscular dystrophy (BMD) is less severe: walking is preserved until the age of 16, or even is never lost. Both are linked to defects in the DMD gene which encodes dystrophin, a protein whose quantity … [Read more]
Genethon gets the green light from the ANSM to start an innovative gene therapy trial for DMD
Genethon, dedicated to designing and developing gene therapy products for rare diseases, received this Monday 30th of November the authorisation from the ANSM, the French National Agency for Medicines and Health Products Safety, to start in France a multicentre international clinical trial for the treatment of Duchenne muscular dystrophy with product GNT 004. This trial’s … [Read more]
