Jean-Yves Hogrel

Jean-Yves Hogrel
Institute of Myology · Neuromuscular Physiology and Evaluation Lab

PhD

About

376
Publications
65,407
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7,018
Citations
Citations since 2016
175 Research Items
4803 Citations
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20162017201820192020202120220200400600800
20162017201820192020202120220200400600800
20162017201820192020202120220200400600800

Publications

Publications (376)
Article
Quantitative magnetic resonance imaging (qMRI) outcome measures such as muscle fat fraction (FF) and contractile cross-sectional area (cCSA), reflecting disease progression, and water T2, reflecting disease activity (inflammation, edema), are used in the longitudinal studies of neuromuscular diseases, including inclusion body myositis (IBM). Here,...
Article
Glycogen storage disease type IIIa (GSDIIIa) is an autosomal recessive disorder caused by mutations in the AGL gene coding for the glycogen debranching enzyme. The symptoms start in childhood with liver involvement and progress at adulthood with skeletal muscle weakness. With imminent therapeutic trials, quantitative documentation of disease progre...
Article
Neuromuscular disorders (NMD) are characterized by progressive muscle weakness leading to dramatic impairments in functional capacities and quality of life. A new class of promising lightweight lower-limb wearable powered exoskeletons is currently emerging. However, data regarding the potential of such devices in patients with NMD are scarce. Withi...
Article
Exercise (EX) in stable autoimmune MG has been shown to be safe and may be effective in improving function. However, current literature demonstrates that not all individuals with MG undergo regular EX. The reasons for this are unclear, due to a lack of studies and contradictory results in existing data with respect to disease severity as a possible...
Article
Neuromuscular disorders (NMD) are characterized by progressive muscle weakness leading to dramatic impairments in functional capacities and quality of life. A new class of promising lightweight lower-limb wearable powered exoskeletons is currently emerging. However, data regarding the potential of such devices in patients with NMD are scarce. Withi...
Article
Full-text available
Background: Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (31 P MRS) outcome measures and evaluated their relationship with...
Article
Full-text available
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients wit...
Preprint
Full-text available
Background ATL1102 is a 2’MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4. ATL1102 inhibits expression of CD49d on lymphocytes, thereby reducing their survival, activation and migration to sites of inflammation. Children with Duchenne muscular dystrophy (DMD) have dystrophin deficient muscles. These are susceptible to contr...
Article
Background The relationship between the diaphragm thickening fraction and the transdiaphragmatic pressure, the reference method to evaluate the diaphragm function, has not been clearly established. This study investigated the global and intraindividual relationship between the thickening fraction of the diaphragm and the transdiaphragmatic pressure...
Article
The small sample sizes inherent in rare and pediatric disease settings offer significant challenges for clinical trial design. In such settings, Bayesian adaptive trial methods can often pay dividends, allowing the sensible incorporation of auxiliary data and other relevant information to bolster that collected by the trial itself. Previous work ha...
Article
Introduction/aims: Mutations amenable to skipping of specific exons have been associated with different motor progression in Duchenne muscular dystrophy (DMD). Less is known about their association with long-term respiratory function. We aimed to investigate the features of respiratory progression in four DMD genotypes relevant for ongoing exon sk...
Article
Full-text available
Objective To understand the natural disease upper limb progression over 3 years of ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) using functional assessments and quantitative magnetic resonance imaging (MRI) and to exploratively identify prognostic factors. Methods Forty boys with DMD (22 non-ambulatory and 18 ambul...
Article
Full-text available
Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. Materials and methods We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and...
Article
Full-text available
Objective The aim of this study was the comprehensive characterisation of longitudinal clinical, electrophysiological and neuroimaging measures in type III and IV adult spinal muscular atrophy (SMA) with a view to propose objective monitoring markers for future clinical trials. Methods Fourteen type III or IV SMA patients underwent standardised as...
Article
The tolerance of exercise and its effects on quality of life in myasthenia gravis are not currently backed up by strong evidence. The aim of this study was to determine whether exercise as an adjunct therapy is well tolerated and can improve health-related quality of life (HRQoL) in stabilized, generalized autoimmune myasthenia gravis (gMG). We con...
Article
Background: Muscle weakness and fatigability, the prominent symptoms of autoimmune myasthenia gravis (MG), impact negatively on daily function and quality of life (QoL). It is currently unclear as to what extent symptoms limit activity and whether physical activity (PA) behaviours are associated with reduced QoL. Objectives: This study aimed to...
Article
Full-text available
By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. Usually, insufficient resources or services are available, leading to patients’ social burden. From a medical perspective, the ra...
Article
Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherited in an X-linked manner and is associated to glycogenosis type VIII (GSD VIII also called GSD IXd)....
Article
Full-text available
Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. The Jain Clinical Outcomes Study of Dysferlinopathy aims to establish the validity of the North Star Asse...
Article
Full-text available
Background: The availability of non-invasive, accessible, and reliable methods for estimating regional skeletal muscle volume is paramount in conditions involving primary and/or secondary muscle wasting. This work aimed at (i) optimizing serial bioelectrical impedance analysis (SBIA ) by computing a conductivity constant based on quantitative magn...
Article
Full-text available
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 the sensitivity of these measures to determine their suitability as endpoints in clinical trials. Methods Patients with Type 2 and 3 SMA (N = 81) with varied functional abilit...
Article
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Background Diaphragm dysfunction is highly prevalent in mechanically ventilated patients. Recent work showed that changes in diaphragm shear modulus (ΔSMdi) assessed using ultrasound shear wave elastography (SWE) are strongly related to changes in Pdi (ΔPdi) in healthy subjects. The aims of this study were to investigate the relationship between ΔS...
Article
Background Inclusion body myositis is the most frequent myositis in patients older than 50 years. Classical immunosuppressants are ineffective in treating inclusion body myositis, and to date there are no recommendations for pharmacological approaches to treatment. When used after organ transplantation, sirolimus can block the proliferation of effe...
Patent
A method, device, and system for the assessment of the quality of balance and for alerting from an impairment of balance of a subject. The device comprises a plate for receiving the feet of a subject and mounted on a plurality of pressure sensors measuring vertical forces applied to the plate, wherein the method comprises the measurement, by means...
Article
Spinal muscular atrophy (SMA) is an autosomal recessive lower motor neuron disease. SMA type III and IV are adult slowly progressing forms. Disease status is usually evaluated by clinical assessments, which appears inherently suboptimal to detect subtle changes, limiting the ability to test the efficacy of possibly effective drugs. The objective of...
Conference Paper
Availability of noninvasive, robust, and reliable methods for assessing segmental skeletal muscle volume is essential in general population and conditions involving muscle wasting. This work aimed at: i) optimizing serial bioelectrical impedance analysis (SBIA) by computing a conductivity constant experimentally, ii) investigating the potential of...
Conference Paper
Muscle weakness and fatigability, the hallmark symptoms of auto-immune myasthenia gravis (MG), impact negatively on daily function and quality of life (QoL). To what extent MG symptoms limit activity is unclear and whether QoL is related to physical activity (PA) behavior is unknown. PA data from females with generalized MG were compared to control...
Article
Key points: Twitch transdiaphragmatic pressure elicited by cervical magnetic stimulation of the phrenic nerves is a fully non-volitional method for assessing diaphragm contractility in humans, yet it requires invasive procedures such as oesophageal and gastric catheter balloons. Ultrafast ultrasound enables a very high frame rate allowing the capt...
Article
Introduction Les amyotrophies spinales de type III et IV (spinal muscular atrophy, SMA) sont des maladies héréditaires du motoneurone spinal qui concernent l’âge adulte et se caractérisent par une évolution très lente. Objectifs L’objectif de ce travail était l’analyse longitudinale d’une cohorte de patients adultes atteints de SMA de type III et...
Article
Full-text available
Objective The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5–29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed for a clinical trial to stabi...
Article
Objective Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme®), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stab...
Article
Objective : This study aimed to investigate the relationship between changes in clinical status on daily life physical activity (PA) in patients with idiopathic inflammatory myopathy (IIM). Methods : Patients with dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM) or overlap myositis (OM) who presented either a new-onset or relapsin...
Article
Full-text available
The aim of this study was to assess associations between performance in the timed up-and-go (TUG) and six-minute walk distance (6MWD) with physiological characteristics in young and old healthy adults. Thereto, we determined TUG, 6MWD, normalised jump power, centre of pressure displacement during 1-leg standing, forced expiratory volume in 1 s, per...
Article
Background: Spinal muscular atrophy (SMA) is an autosomal recessive lower motor neuron disease. SMA type III and IV are adult slowly progressing forms. Objective: The objective of this study was the longitudinal and multimodal description of a cohort of SMA type III and IV patients for the identification of possible biomarkers of disease progressi...
Article
Full-text available
Objective: Muscle strength is a critical clinical hallmark in both health and disease. The current study introduces a novel portable device prototype (MyoQuad) for assessing and monitoring maximal voluntary isometric knee extension torque (MVIT). Approach: Fifty-six patients with inclusion body myositis were studied. Knee extension weakness is a...
Article
Full-text available
Background and objective To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. Methods ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests include...
Article
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Objective To study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study. Methods We performed a prospective cohort study on the clinical f...
Article
Deciphering the mechanisms that govern skeletal muscle plasticity is essential to understand its pathophysiological processes, including age-related sarcopenia. The voltage-gated calcium channel CaV1.1 has a central role in excitation-contraction coupling (ECC), raising the possibility that it may also initiate the adaptive response to changes duri...
Conference Paper
Full-text available
This study aimed to evaluate physical activity (PA) monitoring using wrist-worn accelerometers in the assessment of myositis patients. Included patients had a diagnosis of dermatomyositis (DM), immune-mediated necrotizing myopathy (IMNM) or overlap myositis (OM) and were evaluated at baseline (M0) and 6 months (M6). IMACS core-set measures, ACR/EUL...
Article
Full-text available
Objective: To determine the effects of 10 years of enzyme replacement therapy (ERT) in adult patients with Pompe disease, focusing on individual variability in treatment response. Methods: In this prospective, multicenter cohort study, we studied 30 patients from the Netherlands and France who had started ERT during the only randomized placebo-c...
Article
Full-text available
Objective Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat frac...
Article
Objectives: Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures. Methods: We designed an international prospective and long...
Article
The reference method for the assessment of diaphragm function relies on the measurement of transdiaphragmatic pressure (Pdi). Local muscle stiffness measured using ultrafast shear wave elastography (SWE) provides reliable estimates of muscle force in locomotor muscles. This study aimed at investigating whether SWE could be used as a surrogate of Pd...
Article
The field of translational research in Duchenne muscular dystrophy (DMD) has been transformed in the last decade by a number of therapeutic targets, mostly studied in ambulant patients. A paucity of studies focus on measures that capture the non-ambulant stage of the disease, and the transition between the ambulant and non-ambulant phase. In this p...
Article
Full-text available
Objective To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. Methods One hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. Baseline, 6-month, and 1-year assessments included adapted...
Article
Introduction Les accéléromètres de poignet permettent une mesure objective de l’activité physique dans la vie quotidienne. Récemment, l’ENMC (European Neuromuscular Center) a recommandé d’implanter dans l’évaluation clinique courante l’activité physique pour améliorer le suivi des patients atteints de myopathies auto-immunes L’objectif était donc d...
Article
Full-text available
Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been consistently reported in mouse models. The objective of this study is the characterisation of spinal and cerebral pathology in adult forms of SMA using multimodal quantitative imag...