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From GACI to PXE- The Role of ABCC6 Deficiency: From Bench to Clinic
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
o Dermal, vascular and retinal abnormalities are classic symptoms.
o Recent research on neurovascular complications, joint calcification, and osteoarthritis

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

=> Diagnosis of PXE –
o 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
o Overview of PPi
o How does ABCC6 Deficiency lead to multiorgan disease?

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

Upcoming Clinical Studies- Dr Uitto
=> Overview of the trial design
o Inclusion/exclusion
o Key endpoints

00:52:00

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