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You are here: Home / Education / E-learning / Inozyme Symposium: From GACI to PXE- The Role of ABCC6 Deficiency: From Bench to Clinic

Inozyme Symposium: From GACI to PXE- The Role of ABCC6 Deficiency: From Bench to Clinic

Inozyme symposia

November 15th at 16h00 CEST

Ludovic Martin MD PhD – Professor Dermatology and venereology CHU Angers

Jouni Uitto MD PhD –   Professor and Chair, Department of Dermatology & Cutaneous Biology Thomas Jefferson University

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
    • Dermal, vascular and retinal abnormalities are classic symptoms.
    • Recent research on neurovascular complications, joint calcification, and osteoarthritis

 

  • ABCC6 Deficiency in infants presenting with a GACI phenotype
    • Are the phenotypes similar between infants and adults with ABCC6 Deficiency?

 

  • Diagnosis of PXE –
    • There is a long delay (~21 years) between first signs of PXE and a diagnosis – How can we distinguish PXE quicker?

 

  • 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
    • Overview of PPi
    • How does ABCC6 Deficiency lead to multiorgan disease?

 

  • Lesson from the ABCC6 deficient mouse model
    • Model for tissue calcification
    • Is ENPP1 enzyme replacement therapy a potential therapy for PXE?

 

Upcoming Clinical Studies- Dr Uitto

  • Overview of the trial design
    • Inclusion/exclusion
    • Key endpoints
Register here for the symposium
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