Myology research highlights

Kennedy’s disease is a relatively slow-growing motor neuron disease. Among the various clinical signs, swallowing disorders strongly affect the quality of life of patients. Leuprorelin, a gonadotropin releasing hormone (GnRH) analogue already used in the treatment of prostate cancer, reduces the production of testicular androgens. Administered to Kennedy disease mouse models, leuprorelin improves their motor … [Read more]

Duchenne muscular dystrophy (DMD), the most common form of myopathy in children, is currently experiencing major developments in innovative therapies. This neuromuscular disease leading to loss of walking in early adolescence and early death in adulthood, can thus benefit, still experimentally in most cases, from different therapeutic approaches such as exon(s) skipping (by antisense oligonucleotides) … [Read more]

The primary endpoint of the second part of the FIREFISH clinical trial has been met. This is an announcement by Roche and PTC Therapeutics, the two laboratories that develop risdiplam, a small molecule orally administered correcting the maturation of SMN2. The FIREFISH clinical trial is an open-label, international trial (also taking place in France), involving … [Read more]

  According to 3 recent publications, gene therapy approaches in the demyelinating (CMT 4J) or intermediate (CMT X1) forms of Charcot-Marie-Tooth disease (CMT) help to target the Schwann cells, supplying them with gene therapy, and thus reducing peripheral nervous system involvement. American researchers have constructed a gene therapy product incorporating the FIG4 gene (associated with … [Read more]

Cori-Forbes disease or type III glycogenosis is an inherited disease caused by a deficiency of the debranching enzyme, causing a defect in the production of glucose from glycogen in the liver and sometimes in muscle. The symptoms are hepatomegaly, fasting hypoglycaemia, and in some patients (type IIIa) muscle damage (fatigue, intolerance to exertion, cardiomyopathy, etc.). … [Read more]

Charcot-Marie-Tooth disease type 1A (CMT1A) is an inherited sensory-motor neuropathy linked to the duplication of the PMP22 gene. Excessive production of PMP22 by Schwann cells disrupts the myelin sheath and interferes with peripheral nerve function.  RNA interference is one of the therapeutic avenues being developed in CMT 1A to decrease the expression of PMP22 in … [Read more]

With a prevalence of 1 in 200,000 in Europe, inclusion body myositis is the most common idiopathic myositis after the age of 50. It is characterized by an often asymmetric muscle involvement with amyotrophy and begins in the quadriceps and / or flexors of the fingers. Muscle biopsy shows two phenomena: inflammation and degeneration with … [Read more]

The STR1VE clinical trial was set up following the positive results of the first trial concerning Zolgensma (onasemnogene abeparvovec) which evaluated its efficacy in 15 participants with type I SMA aged less than 6 months. In this new american, phase III, open-label clinical trial, 22 participants with type I SMA presenting one or two copies … [Read more]

Pre-existing immunity against adeno-associated viruses (AAVs), which are naturally very widespread, is one of the obstacles to gene therapy using such a vector. Zolgensma (onasemnogene abeparvovec), a gene therapy authorized in SMA, is in particular composed of an AAV9. When setting up clinical trials with Zolgensma, young participants whose anti-AAV9 antibody level exceeded 1:50 were … [Read more]

In Duchenne muscular dystrophy (DMD), heart involvement leads to heart failure. Angiotensin-converting enzyme (ACE) inhibitors are routinely prescribed at around 10 years of age for prevention. A French retrospective study initiated by Prof. Karim Wahbi, Professor of Cardiology at the Cochin Hospital and the Institute of Myology (Paris), relating to a cohort of boys with … [Read more]