The role of intestinal organoid function for evaluation of CFTR - - PowerPoint PPT Presentation

the role of intestinal organoid function for evaluation
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The role of intestinal organoid function for evaluation of CFTR - - PowerPoint PPT Presentation

The role of intestinal organoid function for evaluation of CFTR modulators Intestinal organoids for CF disease modeling Intestinal organoids for CF disease modeling Intestinal organoids for CF disease modeling Intestinal organoids for CF


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The role of intestinal organoid function for evaluation of CFTR modulators

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Intestinal organoids for CF disease modeling

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Intestinal organoids for CF disease modeling

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Intestinal organoids for CF disease modeling

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Intestinal organoids for CF disease modeling

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(Individual) drug efficacy

Pharmacodynamics What does a drug do to a body? Pharmacokinetics What does a body do with a drug? + CFTR protein restoring drugs (VX770 / VX809) (Individual) efficacy CFTR genotyping Ex vivo primary cells

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  • Rectal biopsy: relatively easily accessible (painless, w/o hemorroids)
  • Robust and ‘easy’ culture:

~250 donors (40 CFTR genotypes)

  • start of

shipped biopsies within 3-4 days

  • self-
  • rganize
  • Stem cells: expansion and biobanking
  • New technology
  • Impact of ex vivo culture and culture components variability
  • Intestinal origin

Benefits of organoid cell cultures

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Intestinal organoids Intestinal organoids

Dekkers et al Nature Medicine, 2013 Dekkers et al. Rare Diseases, 2013

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Forskolin / Cholera toxin + (cAMP ) Fluid transport

cAMP-driven fluid secretion in organoids is CFTR-dependent

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CFTR-directed therapy in organoids

F508del / F508del F508del / F508del + CFTR directed therapy

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CFTR function measurement: FIS

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Typing a patient function using organoids

8 x 3: 24 wells 4 drug conditions (-,770, 809, 770+809) 96 wells: 1 plate

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Organoid responses and FEV1 (published data)

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Identifying potential responders

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G1249R

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CFTR biomarker response is very consistent

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Airway parameters

FEV1 RAW0.5

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Pharmacokinetic parameter: VX770 in blood

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Intestinal organoids and individual drug readout

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Conclusions and Discussion

Characterization of unknown genotypes (rare mutations) additional tool (preclinical / serum endpoint) standardization (shipping to central lab is possible) grey zone? Genotypes vs individuals exclude subjects from treatment? can we increase individual drug efficacy through dosaging? future: identify optimal combination? How to define a clinical responder?

  • relation between in vitro and in vivo CFTR biomarkers >

(in vitro) CFTR biomarker and multi-origin disease phenotype - prophylactic treatments or not?