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, MD, PhD, MCU-PH, Group leader
Melinda GYENGE, PhD, Project manager
Abdessamad KACHAL, MSc, Data manager

Collaborator (CHU Montpellier)
Dalil HAMROUN, PhD, Bioinformatician

Contact : guillaume.bassez@aphp.fr
Website : www.dmscope.fr

Last publications

• Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders. Benarroch L, Boëlle PY, Madry H, Mohand Oumoussa B, Eura N, Nishino I, Labrèche K, Bassez G, Stojkovic T, Gourdon G, Bonne G and Tome S. et al. accepted in Genomics, Proteomics and Bioinformatics (2025) sous presse
• SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Eur J Hum Genet. (2025) 33(6):784-792. doi: 10.1038/s41431-024-01781-x. Epub 2024 Dec 26. PMID: 39725690
• Key determinants of impaired gait performance in adults with neuromuscular diseases: a multiparametric and multimodal analysis. Feigean R, Afroun-Roca C, Guerrini C, Souchu J, Fer F, Benveniste O, Bassez G, Hogrel JY, Bachasson D. J Appl Physiol (1985) (2025) 138(5):1261-1274. doi: 10.1152/japplphysiol.00287.2024.
• Recommendations of an expert group for the cardiac assessment of non-dystrophic myotonia adult patients treated with mexiletine. Vicart S, Wahbi K, Duchateau J, Sellal JM, Desaphy JF, Deharo JC, Bassez G, Salort-Campana E, Labombarda F. Neuromuscul Disord. (2024) 44:104464. doi: 10.1016/j.nmd.2024.104464. PMID: 39368428
• Expert opinion on mexiletine treatment in adult patients with myotonic dystrophy. Wahbi K, Bassez G, Duchateau J, Salort-Campana E, Vicart S, Desaphy JF, Labombarda F, Sellal JM, Deharo JC. Arch Cardiovasc Dis. 2024 Jun-Jul;117(6-7):450-456. doi: 10.1016/j.acvd.2024.03.001. Epub 2024 Apr 15. PMID: 38677940
• Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Brain. 2024 May 2:awae124. doi: 10.1093/brain/awae124. Online ahead of print. PMID: 38696726
• EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, ‘t Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D’Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. PMID: 38355534
• Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy. Fayssoil A, Mansencal N, Nguyen LS, Nardi O, Yaou RB, Leturcq F, Amthor H, Wahbi K, Becane HM, Lofaso F, Prigent H, Bassez G, Behin A, Stojkovic T, Fontaine B, Duboc D, Dubourg O, Clair B, Laforet P, Annane D, Orlikowski D. J Am Heart Assoc. 2023 Aug 15;12(16):e027231. doi: 10.1161/JAHA.122.027231. Epub 2023 Aug 10. PMID: 37581390
• Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry. Lessard LER, Tard C, Salort-Campana E, Sacconi S, Béhin A, Bassez G, Orlikowski D, Merle P, Nollet S, Gallay L, Bérard F, Robinson P, Bouhour F, Laforêt P. Mol Genet Metab. 2023 Jul;139(3):107611. doi: 10.1016/j.ymgme.2023.107611. Epub 2023 May 19. PMID: 37285781
• Patient-reported burden of myasthenia gravis: baseline results of the international prospective, observational, longitudinal real-world digital study MyRealWorld-MG. Dewilde S, Philips G, Paci S, Beauchamp J, Chiroli S, Quinn C, Day L, Larkin M, Palace J, Berrih-Aknin S, Claeys KG, Muppidi S, Mantegazza R, Saccà F, Meisel A, Bassez G, Murai H, Janssen MF. BMJ Open. 2023 Jan 31;13(1):e066445. doi: 10.1136/bmjopen-2022-066445. PMID: 36720569

Other publications :
https://www.ncbi.nlm.nih.gov/pubmed/?term=Bassez+g