Head: Guillaume Bassez
The team is dedicated to translational research of myotonic dystrophy.
Our research is based on three main axes:
- . Characterization of symptoms and natural history of the disorder
- . Validation of outcome measures for clinical trials
- . Biomarker identification
We coordinate the French Observatory of Myotonic Dystrophy, DM-Scope which is currently the largest data registry in the world dedicated to myotonic dystrophy (DM1 or Steinert disease, and DM2). International development is currently in progress with a French-Canadian consortium (iDM-Scope).
DM-scope collects clinical, sociodemographic and lifestyle data of individuals diagnosed with myotonic dystrophy by expert centers. The registry provides innovative functions to help follow-up patients and prescriptions for clinicians.
The registry has nationwide coverage, composed of 55 neuromuscular centres in France Metropole also in overseas, and gathers almost 3000 DM patients. The observatory supported more than 10 research studies which helped define clinical characteristics, prognosis and formulate treatment recommendations. The registry is a powerful tool allows profiling eligible patients to take part in clinical trials.
In collaboration with Jean-Yves Hogrel’s team, we are currently engaged in several longitudinal studies aiming to validate reliable, reproducible and sensitive outcome measures for clinical trials, prioritising non-invasive measures.
Biological samples associated with the observatory provide a unique source to discover disease biomarkers.
Our work enabled the clinical transfer of a pharmacological treatment (Metformin) identified in vitro (i-Stem collaboration).
Our goal is to be able to perform any type of clinical trial (genetic, pharmacological or molecular) with the highest standards of performance.
Group members
Guillaume BASSEZ, PhD, MCU-PH, Group leader
Marie de ANTONIO, Biostatistician
Melinda GYENGE, PhD, Research engineer
Nuria JEBROUNI, PhD, Clinical research associate
Collaborator (CHU Montpellier)
Dalil HAMROUN, PhD, Bioinformatician
Contact : guillaume.bassez@aphp.fr
Website : www.dmscope.fr
Last publications
- Tsai YC, de Pontual L, Heiner C, Stojkovic T, Furling D, Bassez G, Gourdon G, Tomé S. Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing. The Journal Molecular of Diagnostics, 2022. 24: 1143-1154. doi: 10.1016/j.jmoldx.2022.08.003.
- van Cruchten RTP, van As D, Glennon JC, van Engelen BGM, ‘t Hoen PAC; OPTIMISTIC consortium; ReCognitION consortium including D. Furling & G. Gourdon. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC Medicine. 2022 20(1):395. doi: 10.1186/s12916-022-02591-y.
- Wenninger S, Cumming SA, Gutschmidt K, Okkersen K, Jimenez-Moreno AC, Daidj F, Lochmüller H, Hogarth F, Knoop H, Bassez G, Monckton DG, van Engelen BGM, Schoser B. Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1. Neurol Genet. 2021 Mar 9;7(2):e572. doi: 10.1212/NXG.0000000000000572
- Lagrue E, Bassez G. Author response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. Neurology. 2020 Jan 21;94(3):146. doi: 10.1212/WNL.0000000000008825. PMID: 31959688.
- Masingue M, Arzel M, Sternberg D, Stojkovic T, Behin A, Bassez G, Vicart S, Péréon Y, Magot A, Kuntzer T, Eymard B, Fournier E. Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation. Muscle Nerve. 2020 Apr;61(4):491-495. doi: 10.1002/mus.26809. Epub 2020 Jan 22. PMID: 31944327.
- Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Péréon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martínez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D. Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. Brain. 2020 Feb 1;143(2):452-466. doi: 10.1093/brain/awz410. PMID: 32040565; PMCID: PMC7009512.
- Heskamp L, Okkersen K, van Nimwegen M, Ploegmakers MJ, Bassez G, Deux JF, van Engelen BG, Heerschap A; OPTIMISTIC Consortium. Quantitative Muscle MRI Depicts Increased Muscle Mass after a Behavioral Change in Myotonic Dystrophy Type 1. Radiology. 2020 Oct;297(1):132-142. doi: 10.1148/radiol.2020192518. Epub 2020 Aug 18. PMID: 32808888.
- Evangelista T, Lornage X, Carlier PG, Bassez G, Brochier G, Chanut A, Lacène E, Bui MT, Metay C, Oppermann U, Böhm J, Laporte J, Romero NB. A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers. J Neuropathol Exp Neurol. 2020 Aug 1;79(8):908-914. doi: 10.1093/jnen/nlaa052. PMID: 32607581.
- De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S; Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet J Rare Dis. 2019 Jun 3;14(1):122.
- Lagrue E, Dogan C, De Antonio M, Audic F, Bach N, Barnerias C, Bellance R, Cances C, Chabrol B, Cuisset JM, Desguerre I, Durigneux J, Espil C, Fradin M, Héron D, Isapof A, Jacquin-Piques A, Journel H, Laroche-Raynaud C, Laugel V, Magot A, Manel V, Mayer M, Péréon Y, Perrier-Boeswillald J, Peudenier S, Quijano-Roy S, Ragot-Mandry S, Richelme C, Rivier F, Sabouraud P, Sarret C, Testard H, Vanhulle C, Walther-Louvier U, Gherardi R, Hamroun D, Bassez G. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management. Neurology. 2019 Feb 19;92(8):e852-e865.
- Bassez G, Audureau E, Hogrel JY, Arrouasse R, Baghdoyan S, Bhugaloo H, Gourlay-Chu ML, Le Corvoisier P, Peschanski M. Improved mobility with metformin in patients with myotonic dystrophy type 1: a randomized controlled trial. Brain. 2018 Oct 1;141(10):2855-2865.
- Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial.. Lancet Neurol. 2018 Aug;17(8):671-680.
- De Antonio M, Dogan C, Hamroun D, Mati M, Zerrouki S, Eymard B, Katsahian S, Bassez G; French Myotonic Dystrophy Clinical Network.. Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification. Rev Neurol (Paris). 2016 Oct;172(10):572-580.
- Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. PLoS One. 2016 Feb 5;11(2):e0148264.
Other publications :
https://www.ncbi.nlm.nih.gov/pubmed/?term=Bassez+g