Inozyme Symposium:

From GACI to PXE – The Role of ABCC6 Deficiency: From Bench to Clinic

Anna Teti – Professor PhD – Full Professor of Histology, University of L’Aquila School of Biotechnology, L’Aquila, Italy
Ludovic Martin MD PhD – Professor Dermatology and venereology CHU Angers, Angers, France
Jouni Uitto MD PhD –   Professor and Chair, Department of Dermatology & Cutaneous Biology Thomas Jefferson University, Philadelphia, USA
Objectives of the symposium
  • Review the current understanding of ABCC6 Deficiency across the age spectrum
  • Importance of PPi- Lesson from pre-clinical studies
  • Highlight the upcoming clinical studies
Patient Presentation and Prognosis Review – Dr Martin
  • PXE is a multi-system disease 
  • ABCC6 Deficiency in infants presenting with a GACI phenotype
  • Diagnosis of PXE
  • What is the current management and unmet need?
Mechanism of disease/Role of PPi/ pre-clinical data – Dr Uitto
  • ABCC6 -The mechanism associated with the onset of PXE
  • Lesson from the ABCC6 deficient mouse model
Upcoming Clinical Studies – Dr Uitto
  • Overview of the trial design
The session will be live with time for Q&A.