Bassez group

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

 

Relevant publications

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