A5006189680- Muscle Physiology and Disorders
- Muscle activation and electromyography studies
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Glycogen Storage Diseases and Myoclonus
- Nutrition and Health in Aging
- Inflammatory Myopathies and Dermatomyositis
- Cerebral Palsy and Movement Disorders
- Lysosomal Storage Disorders Research
- Body Composition Measurement Techniques
- Advanced Sensor and Energy Harvesting Materials
- Myasthenia Gravis and Thymoma
- Botulinum Toxin and Related Neurological Disorders
- Children's Physical and Motor Development
- Balance, Gait, and Falls Prevention
- Peripheral Neuropathies and Disorders
- Neuroscience and Neural Engineering
- Parkinson's Disease and Spinal Disorders
- Sports Performance and Training
- Cellular transport and secretion
- Virus-based gene therapy research
- Stroke Rehabilitation and Recovery
- Tissue Engineering and Regenerative Medicine
- Metabolism and Genetic Disorders
Institut de Myologie
2016-2025
Sorbonne Université
2015-2024
Pitié-Salpêtrière Hospital
2011-2023
Assistance Publique – Hôpitaux de Paris
2013-2023
Muscular Dystrophy UK
2023
Hôpital Armand-Trousseau
2021
Committee on Publication Ethics
2021
Novem (Netherlands)
2021
Inserm
2009-2019
Bambino Gesù Children's Hospital
2019
The aim of the present study was to assess reliability shear elastic modulus measurements performed using supersonic imaging (SSI) in nine resting muscles (i.e. gastrocnemius medialis, tibialis anterior, vastus lateralis, rectus femoris, triceps brachii, biceps brachioradialis, adductor pollicis obliquus and abductor digiti minimi) different architectures typologies. Thirty healthy subjects were randomly assigned intra-session (n = 20), inter-day 21) inter-observer 16) experiments. Muscle...
Abstract Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors attractive strategy to treat DMD. Here we show that locoregional systemic delivery of a rAAV2/8 vector expressing canine (cMD1) effective restoring expression stabilizing clinical symptoms studies performed on total 12 treated golden retriever...
Background Outcome measures for clinical trials in neuromuscular diseases are typically based on physical assessments which dependent patient effort, combine the effort of different muscle groups, and may not be sensitive to progression over short trial periods slow-progressing diseases. We hypothesised that quantitative fat imaging by MRI (Dixon technique) could provide more discriminating quantitative, patient-independent measurements progress replacement within individual groups....
Grip strength is a variable which may be important to measure and follow in various populations. A new dynamometer with high accuracy sensitivity has recently been developed assess grip strength. The objectives of this work were provide norms maximal isometric measured (the MyoGrip device), the reliability measurements, compare measurements obtained Jamar dynamometers finally establish predictive equations from population healthy subjects (children adults).Measurements using (which...
Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results broad range disease severity, from neonatal to adult onset. There currently concerted effort define natural history and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are under investigation both FDA EMA have recently approved first medical treatment for SMA, there critical need identify right...
Abstract Background Handgrip strength (HGS) is used to identify individuals with low muscle (dynapenia). The influence of the number attempts on maximal HGS not yet known and may differ depending age health status. This study aimed assess how many are required obtain HGS. Methods Three cohorts (939 individuals) differing in status were included. was assessed three times explored as continuous dichotomous variable. Paired t ‐test, intraclass correlation coefficients (ICC) Bland–Altman...
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the dystrophin gene, without curative treatment yet available. Our study provides, for first time, overall safety profile and therapeutic dose of recombinant adeno-associated virus vector, serotype 8 (rAAV8) carrying modified U7snRNA sequence promoting exon skipping to restore functional in-frame transcript, injected locoregional transvenous perfusion forelimb. Eighteen Golden Retriever Muscular...
The MG-QOL15 is a validated, health-related quality of life (HRQOL) measure for myasthenia gravis (MG). Widespread use the scale gave us opportunity to further analyze its clinimetric properties. We first performed Rasch analysis on >1,300 15-item Myasthenia Gravis Quality Life (MG-QOL15) completed surveys. Results were discussed during conference call with specialists and biostatisticians. decided revise 3 items prospectively evaluate revised (MG-QOL15r) using either 3, 4, or 5 responses....
Assessment of muscle mechanical properties may provide clinically valuable information for follow-up patients with Duchenne muscular dystrophy (DMD) through the course their disease. In this study we aimed to assess effect DMD on stiffness relaxed muscles using elastography (supersonic shear imaging).Fourteen and 13 control subjects were studied. Six measured at 2 lengths (shortened stretched): gastrocnemius medialis (GM); tibialis anterior (TA); vastus lateralis (VL); biceps brachii (BB);...
<h3>Objective</h3> To determine the effects of 10 years enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability treatment response. <h3>Methods</h3> In this prospective, multicenter cohort study, we studied 30 from Netherlands and France who had started ERT during only randomized placebo-controlled clinical trial late-onset disease (NCT00158600) or its extension (NCT00455195) 2005 to 2008. Main outcomes were walking ability (6-minute walk...
Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous imaging studies describe selective pattern involvement smaller patient cohorts, but large study across entire spectrum dysferlinopathies had not been performed previous findings were correlated with functional tests. Methods We present cross-sectional T1-weighted MRI data from 182 patients genetically confirmed dysferlinopathies. have analysed muscles involved disease...
X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure death, typically within 2 years of age. Our objective was evaluate the efficacy safety systemic therapy in p.N155K canine model by performing a dose escalation study. A recombinant adeno-associated virus serotype 8 (rAAV8) vector expressing (cMTM1) under muscle-specific desmin promoter (rAAV8-cMTM1) administered...
Abstract Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for sensitivity these determine their suitability endpoints in clinical trials. Methods Patients with Type 2 3 SMA (N = 81) varied functional abilities (sitters, nonsitters, nonambulant, ambulant) who were not receiving disease‐modifying treatment assessed months: motor function (Motor Function Measure [MFM]), upper...
Metformin, the well-known anti-diabetic drug, has been shown recently to improve grip test performance of DMSXL mouse model myotonic dystrophy type 1. The drug may have positively affected muscle function via several molecular mechanisms, on RNA splicing, autophagia, insulin sensitivity or glycogen synthesis. Myotonic remains essentially an unmet medical need. Since metformin benefits from a good toxicity profile, we investigated its potential for improving mobility in patients. Forty...
Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory better quantify burden and determine best outcome measures.We designed an international prospective longitudinal natural history study patients XLMTM assessed muscle strength motor respiratory functions over first year of follow-up. The humoral immunity against adeno-associated virus...
Background ATL1102 is a 2’MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression on lymphocytes, reducing survival, activation and migration sites inflammation. Children with DMD have dystrophin deficient muscles susceptible contraction induced injury, which triggers immune system, exacerbating muscle damage. biomarker disease severity in DMD, increased numbers high expressing T cells correlating more severe progressive weakess, despite corticosteroid...
To investigate the associations between mutations expected to differentially affect Dp140 expression and long-term trajectories of respiratory upper-limb motor outcomes in Duchenne muscular dystrophy (DMD). In a retrospective analysis population-based longitudinal data from three real-world natural history sources, individuals with DMD aged 5 years 18 were subdivided according predicted effects participants' mutation on dystrophin isoform (group 1, Dp427 absent, Dp140/Dp71 present; group 2,...
Muscle biopsy findings in DM2 have been reported to be similar those DM1. The authors used myosin heavy chain immunohistochemistry and enzyme histochemistry for fiber type differentiation on muscle biopsies. Their results show that patients display a subpopulation of 2 nuclear clump other very small fibers and, hence, preferential atrophy contrast 1 DM1 patients.