Myology research highlights
RSS feedPreliminary results of FIREFISH, a trial evaluating ridisplam in type 1 SMA
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]
Growing number of gene therapy approaches in CMT
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]
Nutritional ketosis before exercise shows benefits in type III glycogenosis with major muscle damage
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]
Using gene therapy to treat CMT 1A through RNA interference
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]
Development of arimoclomol stops in inclusion body myositis
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]
STR1VE results confirm efficacy of Zolgensma in type I SMA
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]
A low level of anti-AAV9 antibodies makes most very young patients with SMA eligible for Zolgensma
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]
Life expectancy is increasing for DMD thanks to the angiotensin-converting enzyme (ACE) inhibitors
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]
The phenotype distinction between Myoshi distal myopathy and LGMD R2 is no longer justifiable in dysferlinopathy
Dysferlinopathy encompasses several clinical entities, having in common a deficit in dysferlin, a protein involved in muscle fibre membrane repair mechanisms. Initially reduced simply to Myoshi distal myopathy, the phenotype spectrum was rapidly extended to pure proximal forms such as limb-girdle muscular dystrophy (LGMD) R2, and especially to mixed proximal/distal forms. Dysferlinopathy is transmitted in … [Read more]
Identification of a slow and gradual decline in muscle strength in GNE myopathy and tailored tools to evaluate it
Characterised by distal muscle weakness, GNE myopathy (also known as Nonaka myopathy, hereditary inclusion body myositis, distal myopathy with rimmed vacuoles or quadriceps-sparing myopathy) is caused by abnormalities in the GNE gene, which codes an enzyme involved in sialic acid biosynthesis. To date, only two natural history studies of this disease have been published, one … [Read more]
