Mandatory newborn screening (NBS) for CF in the US and in other countries has brought attention to new challenges and considerations for healthcare providers. Education and coordination of care with primary providers for testing is just one of many issues that have been experienced by CF care centers. This workshop will explore the way one center addressed this issue. This workshop will also look at how caregivers have responded to carrier status identification; parental understanding of NBS and their psycho-educational needs. The potential for postpartum depression following NBS will be explored and the parent of a child diagnosed by NBS will share her experience and thoughts.
Palliative care should continue across the spectrum and lifetime of a cystic fibrosis patient. However, it is often a misunderstood and underutilized service. We will have a multidisciplinary panel present and explain what palliative care is, some innovative ways and tools to apply it to clinical practice, and reasons why it is important to screen for need and appropriately intervene with palliative care early in treatment and throughout the patient's life.
Research on the importance of nutritional status on outcomes in cystic fibrosis has established a strong association between the two. In this session, we will explore the current state of infant feeding practices. The role of pancreatic enzyme replacement therapy on nutritional status in early childhood and on health care utilization will also be explored. Monitoring of nutritional status has been centered around attaining an optimal BMI, but over-reliance on this measure may lead to missed opportunities. These topics will inform development of nutritional intervention algorithms designed to improve nutritional status.
Elizabeth H. Yen, M.D., Assistant Clinical Professor, University of California San Francisco
Correcting mutant CFTR (in particular F508del-CFTR) is a difficult task due to a complex nature of the basic defect. Overcoming the biosynthetic processing arrest, improving defective gating, and increasing the plasma membrane stability are required to fix F508del-CFTR. Several extrinsic factors also limit current rescue strategies. In this session, we will discuss the barriers and present novel approaches to fix mutant CFTR.
Workshop (W12) will highlight animal models that contribute to our understanding of CF airway disease. The workshop will include presentations from four different model species. Each presentation will offer insights into disease mechanisms that can contribute to the development and/or exacerbation of CF airway disease.
One of the greatest challenges in the conduct of CF clinical trials is the designation of clinically relevant endpoints, which are sufficiently rigorous to reflect biological changes and to meet regulatory requirements. This session will include a broad variety of approaches to reporting outcomes in CF, from CFTR function to imaging changes to patient-reported outcomes. The final discussion will highlight current regulatory requirements in the context of outcomes, allowing attendees an understanding of ongoing challenges in the field.
Jane Davies, M.D., MBChB, MRCP, Prof - Paed Respirology & Experimental Medicine
With over 1,000 known CFTR mutations, which are associated with varying symptoms and severity of disease, identifying the best approaches to treat different mutations remains challenging. This workshop will focus on the CFTR defects caused by rare mutations and the strategies to understand and mitigate the defects caused by them. The speakers will present: a) basic research using biophysical, biochemical and electrophysiological approaches to assess the response of mutant CFTR to correctors; b) translational studies where approaches using patient derived cell models for personalized medicine will be discussed; and c) clinical research studies employing Ivacaftor for rare CFTR mutations.
Guido Veit, Ph.D., Postdoctoral Fellow, McGill University
This workshop will provide attendees an overview of research submitted as abstracts pertaining to pathogenesis of infection in CF. Topics relate to the intersection of microbial virulence and the host immune response that modulates the disease process. Approaches utilize a spectrum of in vitro, in vivo, animal models and clinical/human subjects strategies.
This workshop contains presentations of research submitted as abstracts pertaining to Adult and Pediatric Endocrinology in CF (including diabetes & bone). Topics this year related to bone disease include direct assessments of bone quality in human bone samples, the effect of CFTR correctors on CF osteoblasts and bone disease in the CF rat model. Topics pertinent to diabetes include a report of early glucose abnormalities in infants and children with CF, the role of advanced glycation end products in CFRD, prediction of CFRD using a genetic modifier of CFRD in conjunction with lab testing during the first years of life and the effect of CFRD on survival of UNOS registrants.