symposium
Inozyme Symposium:
From GACI to PXE – The Role of ABCC6 Deficiency: From Bench to Clinic
Chair:
Anna Teti – Professor PhD – Full Professor of Histology, University of L’Aquila School of Biotechnology, L’Aquila, Italy
Speakers:
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.