Blog Archives
66 participants: all time record for our 2019 Summer School!
The 22nd edition of our Summer School of Myology just ended. It took place at the Institute of Myology from June 17th to 22nd. Every year, the Institute offers the possibility to get trained in Myology thanks to a condensed 6-day course organized in Paris. The course is open to foreign applicants whichever country they … [Read more]
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment
There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA). The objective of this study was to examine neurochemical markers in cerebrospinal fluid (CSF) under treatment with the antisense-oligonucleotide (ASO), nusinersen. The researchers measured markers of axonal degeneration [neurofilament light chain … [Read more]
Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive degeneration of lower motor neurons in the spinal cord, resulting in skeletal muscle atrophy and muscle weakness. This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe spinal muscular atrophy type … [Read more]
Two gene therapy trials underway at I-Motion
Of the roughly 20 clinical trials underway at I-Motion, two concern gene therapy, which constitutes one of the preferred approaches to treating genetic diseases. It consists of inserting, into the cells of the patient, a normal version of a gene that is not functioning properly and that is causing the disease. The properly functioning gene … [Read more]
Gene therapy as a potential therapeutic option for DMD: a qualitative preference study of patients and parents
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents’ and adult patients’ preferences about gene therapy. The authors report qualitative data from 17 parents of children with DMD and 6 adult patients. … [Read more]
Priorities when deciding on participation in early-phase gene therapy trials for DMD: a best-worst scaling experiment in caregivers and adult patients
Several gene therapy trials for Duchenne muscular dystrophy have been initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in early-phase gene therapy trials. The authors conducted a best-worst scaling experiment among U.S. … [Read more]
Evaluating benefit-risk decision-making in SMA: a first-ever study to assess risk tolerance in the SMA patient community
Patients’ perceptions of benefit-risk are essential to informing the regulatory process and the context in which potential therapies are evaluated. To bring this critical information to regulators, Cure SMA launched a first-ever Benefit-Risk Survey for spinal muscular atrophy (SMA) to characterize decision-making and benefit-risk trade-offs in SMA associated with a potential therapy. The authors hypothesized … [Read more]
A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia
Myotonia is found in a number of muscle diseases, including myotonic dystrophy and non-dystrophic myotonia. The resulting symptoms of myotonia can interfere with daily activities such as walking or climbing the stairs. Due to the rarity of both these conditions, pharmacological treatment of myotonia is largely anecdotal and is led by specialist clinicians who tend … [Read more]
NFL is a marker of treatment response in children with SMA treated with nusinersen
Recently, the anti-sense oligonucleotide drug nusinersen was approved for spinal muscular atrophy (SMA) and the aim of this study was to find a response marker for this treatment. Twelve children with SMA type 1 and two copies of the SMN2 gene were included in a consecutive single-center study. The children were sampled for CSF at … [Read more]
Investigational RNAi therapeutic targeting C5 is efficacious in pre-clinical models of Myasthenia gravis
Complement-mediated damage to the neuromuscular junction (NMJ) is a key mechanism of pathology in myasthenia gravis (MG), and therapeutics inhibiting complement have shown evidence of efficacy in the treatment of MG. In this study, researchers describe the development of a subcutaneously administered N-acetylgalactosamine (GalNAc)-conjugated small interfering RNA (siRNA) targeting the C5 component of complement that … [Read more]
