ProDGNE: Research Project to Develop an Innovative Therapeutic Compound to Treat GNE Myopathy

The Lochmüller Lab is proud to share its involvement in ProDGNE , a three-year transnational pre-clinical research project which aims to develop an innovative therapeutic compound to treat GNE Myopathy (GNEM), an ultra rare muscle disease affecting young adults. ProDGNE represents a unique collaboration among patients and European and Canadian scientists who are experts in clinical GNEM, sialic acid, organic synthesis, and -OMIC technologies.

Working alongside investigators Dr. Fabrizio Pertusati, Dr. Paula Videira, Dr. Pierluigi Caboni and Dr. Rüdiger Horstkorte, the role of the Lochmüller lab within ProDGNE is to lead work package five: Determining in vivo the efficacy and safety of the selected lead compounds by using appropriate animal models of GNEM.


The Lochmüller Lab’s main objective is to determine the safest and most promising lead compounds that come out of the in vitro testing performed in work package two; this will involve using appropriate GNEM animal models, such as an established GNEM zebrafish, and screening for potential toxicity and improvements in disease phenotype. The Lochmüller Lab will also contribute proteomics experiments for the identification of biomarkers to assess the longitudinal effects of different compounds as part of work package four.


Patient initiative is the driving force behind ProDGNE and is embodied by Michela Onali, Patient Representative at GLI Equilibristi HIBM, a GNEM patient organization in Italy. Michela is an indispensable member of the ProDGNE team and is responsible for coordination and management of project milestones, internal and external communication, and played a key role in initially uniting the consortium.


ProDGNE aims to fully incorporate patient partnerships and perspectives and ensure patients have a primary role in guiding and identifying research priorities. The project will consider the patient journey, symptoms, concerns, the impact of the disease, and what matters to all patients at different stages of the disease.


ProDGNE is funded in the framework of the European Joint Programme on Rare Diseases (EJP RD) Joint Transnational Call 2020 “Pre-Clinical Research to Develop Effective Therapies for Rare Diseases”.


ProDGNE also receives funding from the European Commission (EC) under the Horizon 2020 EJP-COFUND action and the following funding organisations:

  • FCT – Foundation for Science and Technology (Portugal)
  • DFG – German Research Foundation (Germany);
  • MUR – Ministry of Universities and Research (Italy)
  • CIHR – Canadian Institutes of Health Research – Institute of Genetics (Canada)
  • INSERM (France)

If you are interested in learning more about this project, you can find ProDGNE on twitter here, and be sure to watch the ProDGNE Kick-Off webinar recording!



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