Joint Transnational Call 2015 (JTC2015)


Congenital Disorders of Glycosylation (CDG) are rare inborn errors of glycosylation. With more than 70 different types and a number of cases constantly growing, CDG becomes an impressive group of metabolic diseases. Fifteen years ago, we created a European network on CDG. It has been maintained over these years and contributed significantly to the knowledge on CDG. Still, because of complex nature of the glycosylation defects, the number of patients that receive effective treatment is small. Interestingly, several potential ways of treating CDG have emerged recently. We plan to develop 3 interconnected lines of research to investigate these possibilities. They include the improvement of monosaccharide treatment, the evaluation of molecular chaperones and antisense mediated exon skipping, and investigations into the potential use of chloroquine and other pharmacological agents that would restore abnormal glycosylation. We will also investigate supportive treatment to improve the life of the patients for whom therapies are not easily conceivable, and thus alleviate the burden for the parents and families. In parallel, we will continue to focus on the rapid diagnosis and elucidation of novel types of CDG, maintain the database and promote research into the pathophysiology of the disease. EURO-CDG-2 will build on the achievements of EURO-CDG and EUROGLYCANET. It brings together a multidisciplinary group of clinical and basic researchers who have proven to be able to collaborate. We want to achieve the ambitious goals set here, for the sake of the patients and their families.

  • Matthijs, Gert (Coordinator)
    University of Leuven [BELGIUM]
  • Van Schaftingen, Emile
    De Duve Institute [BELGIUM]
  • Seta, Nathalie
    Hôpital Bichat-Claude Bernard, APHP [FRANCE]
  • Thiel, Christian
    Heidelberg University Children’s Hospital [GERMANY]
  • Foulquier, François
    French National Research Center (CNRS) [FRANCE]
  • Kornak, Uwe
    Charité Universitätsmedizin [GERMANY]
  • Perez, Belen
    Centro de Biología Molecular Departamento de Biología Molecular, Universidad Autónoma de Madrid [SPAIN]
  • Lefeber, Dirk
    Radboud University Medical Center [NETHERLANDS]