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During the congress, E-Posters will be accessible to all participants on the congress website 24/7, as well as in the E-poster stations in the congress center.
Preparing your E-Poster
Please review the E-Poster format requirements carefully when preparing your E-Poster. Should your E-Poster not meet the mentioned requirements, it may not be displayed as described above.
E-Poster Submission Deadline
Please prepare and upload your E-Poster no later than March 14, 2026 11.59PM CET. After this date, you will no longer be able to prepare and upload your E-poster and it will not be displayed and accessible on the congress website.
Please follow the instructions below to input your abstract title.
Abstract titles should be brief and reflect the content of the abstract.
Polycystic kidney disease (PKD) causes numerous cysts to grow in the kidneys, liver and pancreas. These cysts are filled with fluid. In the United States about 600,000 people have PKD, which is the fourth leading cause of kidney failure. The two main types of PKD are autosomal dominant PKD (ADPKD), which is usually diagnosed in adulthood and autosomal recessive PKD (ARPKD), which can be diagnosed in the womb or shortly after a baby is born.
ADPKD is associated with the slow but relentless formation of multiple renal cysts. CFTR is known to be involved in secreting fluid in PKD through its localization in the apical membrane. Thus, the plasma membrane is the expected site where CFTR functions. We are reporting that CFTR in normal kidney is predominantly localized at the basolateral membrane and in ADPKD more CFTR expression is shifted unexpectedly to the apical membrane. By correcting the CFTR expression with CFTR modulators or AAV1 containing a truncated form of CFTR the cysts are reduced significantly in kidney and liver and the kidney function is improved.
ARPKD is associated with systemic and portal hypertension, fibrosis of the liver and kidney and enlarged kidneys, with fusiform dilation of the collecting ducts. Although it has been postulated that CFTR plays a role in fluid secretion in ADPKD and ARPKD, the opposite is true in both diseases. For example, a double mutant of CFTR and polycystin/polyductin mice developed massively enlarged kidneys and die from renal failure at ~24 days after birth, and a double mutant of CFTR and PC1 mice still developed kidney cysts. Thus, knocking down CFTR makes the disease worse.
We used for ADPKD a mouse model bearing the R3277C human mutation in PC1 and in ARPKD mouse model bearing the Pkhd1del3-4/del3-4 deletion. We injected male and female mice with 30 mg/kg of VX-809 or VX-445 every other day or once with AAV1 del27-264CFTR at 30 days old and sacrificed at 90 days
Cyst areas are significantly reduced in kidney and liver after treatment with CFTR modulators or with AAV1 CFTR gene therapy.
These data indicate that CFTR modulators and AAV1 CFTR reduces proliferation and the presence of CFTR at the apical membrane while increasing CFTR at the basolateral membrane in kidney in an ADPKD model and liver in an ARPKD model. Also, we are reporting direct evidence of involvement of CFTR in cyst reduction in liver and in kidney by using AAV1 CFTR which would bind to WTCFTR and correct the trafficking of CFTR in ADPKD and ARPKD mice. Demonstration of kidney and liver cyst reduction increases the therapeutic potential of VX-809 and AAV1 del27-264CFTR as a treatment of ADPKD and ARPKD.
