Blog Archives
Long-term natural history data in DMD ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
The aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Of the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, … [Read more]
Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in Laminopathies
An accurate estimation of the risk of life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. The authors included 839 adult patients with LMNA mutations, including 660 from a French nationwide registry in the development sample, and 179 from other countries in the validation sample. … [Read more]
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]
