12 May 2023
Rationale for this research study:
BAG3 is a muscle cytoprotective protein and mutations in the BAG3 gene cause a series of heterogeneous neuromuscular and/or cardiac disorders, with either a childhood or adult onset. While some mutations seem to be associated with an early-onset and severe myopathy with cardiac involvement, other are associated with and adult-onset CMT2-type disease. However, there are currently no large series of patients allowing for an exhaustive characterization of the frequency of each of the clinical presentations, the age of onset of symptoms, the severity and progression of the disease as well as the different associated genotypes. In addition, various therapeutic interventions, such as Metformin, are currently being studied in preclinical models. Therefore, we think that it is essential to collect data from patients suffering from these disorders in order to improve the management of the disease and help set up therapeutic trials in the near future.
Description of the study:
A multicenter, non-interventional and retrospective study collecting clinical and paraclinical data from patients (pediatric, adult or deceased) with a genetically proven neuromuscular disorder linked to the BAG3 gene, followed-up in the last 20 years in a European Reference Center for Neuromuscular Diseases. The study will be coordinated by the Reference Center for Neuromuscular Diseases of the Pitié-Salpêtrière Hospital in Paris, France (Dr Gorka Fernández-Eulate and Dr Tanya Stojkovic). Data collection will be in the form of a case report form (CRF). The study will be supervised by the Research Ethics Committee of Sorbonne University. This study will be the subject of a medical publication.
Practical information:
The start of the inclusions is scheduled for May 2023. Physicians interested in collaborating in this project can e-mail the study coordinator team at gorka.fernandez@aphp.fr indicating the total number of patients who can be included. The coordinating team will send to the local team the protocol of the project, the CRF and the different information letters (for adult patients, minor patients and their parents, and the person of trust designated by deceased patients).
