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May 27 / Springer Healthcare

ATS 2021 in-depth report: Cystic Fibrosis


This ATS 2021 in-depth report provides an update on advances in precision medicine in cystic fibrosis.

American Thoracic Society

ATS 2021 Annual Meeting

May 14th – 19th, 2021

In-Depth Report: Cystic Fibrosis

The 2021 Annual Congress of the American Thoracic Society (ATS) was held between May 14th and 19th and showcased the latest advances and breakthrough discoveries that will reshape the future of respiratory science, patient care and global respiratory health. A robust scientific, educational and networking programme was delivered via the virtual ATS platform, which included clinical and scientific sessions, keynote series, postgraduate courses and meet the expert sessions.

ATS President Juan Celedón

Juan Celedón, ATS President

ATS 2021 got underway with the opening ceremony and an address by current President Juan Celedón, who highlighted the extreme challenges of the past year which ATS has addressed with advocacy and a renewed focus on its over-arching mission to advance research and careers, clinical care and public health. Incoming President-Elect Lynn Schnapp then outlined key priorities and opportunities for the year ahead which include infrastructure upgrades, the leveraging of new learning methods and technologies and an increased focus on collaboration and knowledge-sharing.

“This past year, a once-in-a-century catastrophe has revealed the character and commitment of our ATS members who confronted the COVID-19 pandemic with selfless devotion to prevent further suffering and help those afflicted.”

ATS President, Juan Celedón



Precision Medicine in CF

Gregory Sawicki, Boston USA

Gregory Sawicki, Boston, USA, highlighted the ‘great promise’ of precision therapeutics targeting the genetic underpinnings of cystic fibrosis (CF) which may have opened up a new paradigm in the overall care model and are helping to dramatically improve disease outcomes. Four CF transmembrane conductance regulator (CFTR) therapies are now approved including the most recent triple combination of elexacaftor-tezacaftor-ivacaftor. Emerging evidence suggests efficacy with ivacaftor is sustained long-term, but it is currently unclear how recently approved agents will modify disease progression over time. The treatment of ongoing inflammation and infection also remains essential, stressed Dr Sawicki.

CTFR modulator therapies have differing FDA approved ages, target mutations and average FEV1 change in phase III

CTFR modulator therapy for CF: FDA minimum approved age, mutations covered and average FEV1 change in phase III

“As paediatric pulmonologists, we really do need to think about the introduction of CTFR modulator therapy into younger and younger populations.”

Gregory Sawicki, Boston, USA

Perspectives on CF and Primary Ciliary Dyskinesia

Maureen Dunn, Cincinnati USA

Maureen Dunn, Cincinnati, USA, presented results from a pathway analysis of lung function response to ivacaftor using plasma samples from the GOAL study. Increases in protein differences at 1 month - notably in G551D-CFTR modulation, cell adhesion/proliferation/migration and interleukin 18-mediated inflammation suggested the possibility of predicting lung function response at 6 months with a blood test.

“Baseline differences suggest that patients with increased inflammation and remodeling are at risk for poor lung function response to modulators so optimising conditions prior to starting therapy may increase the benefits.”

Maureen Dunn, Cincinnati, USA

Benjamin Kopp, Columbus, USA, assessed CF macrophage function and clinical outcomes after elexacaftor-tezacaftor-ivacaftor (ETI) initiation in a study of 51 patients. ETI therapy was significantly associated with increased CF monocyte-derived macrophage (MDM) CFTR expression/function and localisation to the plasma membrane. A significant correlation between post-ETI MDM CTFR function and sweat chloride was also observed, with the former showing better correlation with clinical outcomes.

Amjad Horani, Washington, USA, presented research showing how null and missense alleles of motile cilia dynein motor assembly factor DNAAF5 differentially influence disease phenotype. Murine ortholog mutations in HEATR2 resulted in a phenotype spectrum, with mutant animals displaying impaired cilia and sperm function.

The overall prevalence of laterality defects in primary ciliary dyskinesia (PCD) was confirmed to be ~50% in a prospective multicentre study (N=559) presented by Andrew Barber, Chapel Hill, USA. Those patients with normal ciliary ultrastructure were almost exclusively situs solitus (SS). The prevalence of laterality defects was greater in the outer dynein arm (ODA) as compared to the inner dynein arm, central apparatus defects and microtubular disorganisation (IDA/CA/MTD) group.

Results of a multicentre cohort study (N=123) exploring the association between hospitalisation for neonatal respiratory distress and future lung function in children with PCD were discussed by Wallace Wee, Toronto, Canada. Length of neonatal hospital stay was associated with worse lung function, with each additional day in hospital found to be associated with a 0.27 drop in FEV1 independent of the underlying ciliary ultrastructural defect.

Proportion of paediatric patients with PCD who experience neonatal respiratory distress globally

Isabelle Dagher, Chapel Hill, USA, showcased results from a prospective, multicentre, observational study (N=141) examining upper airway manifestations of PCD during childhood. A high overall prevalence of upper airway morbidity was discovered, with patients with the DNAH11 genotype appearing to have later onset of upper airway disease.


Intelligence augmentation (IA) systems using the Clinical Annotation Research Kit (CLARK) may have a role in identifying known and undiagnosed PCD based on a cohort study of 8000 patients, explained Sara Abu-Nasser, Chapel Hill, USA. A cut-off CLARK score of 0.8 was found to have higher specificity and sensitivity for the paediatric versus adult cohort.

Katie Bayfield, Westmead, Australia, discussed findings from an observational research study of ultra-low-dose CT in 50 children with CF. Ultra-low-dose CT proved feasible and significantly lowered radiation dose exposure by 78% while providing equivalent detection of structural disease and preserved structure-function relationships compared to standard-dose CT.

In ‘a tale of two inherited lung diseases’, featured speaker Sharon Dell, Vancouver, Canada, contrasted progress and outcomes in PCD versus CF. Although both rank as the most common cause of inherited bronchiectasis, PCD and CF have a distinct pathophysiology and epidemiology. Median survival for CF has been steadily increasing and now stands at around 54 years while equivalent data for PCD remain lacking. Although average lung function is lower in children with PCD versus CF and declines faster, shortcomings in advocacy and research have hampered progress. However, Dr Dell stressed that PCD is now ‘catching up’ and important advances have occurred recently with the establishment of 25 PCD expert clinical centres across the US and the first patients enrolled into a PCD registry.

Closing Remarks

Looking ahead to next year’s congress, ATS is planning a live, in-person event in San Francisco which will be complemented by a rich array of online content. This hybrid conference will take place in May 2022, with final dates to be confirmed.


©Springer Healthcare 2021. This content has been independently selected and developed by Springer Healthcare and licensed by Roche for Medically. The topics covered are based on therapeutic areas specified by Roche. This content is not intended for use by healthcare professionals in the UK, US or Australia. Inclusion or exclusion of any product does not imply its use is either advocated or rejected. Use of trade names is for product identification only and does not imply endorsement. Opinions expressed do not reflect the views of Springer Healthcare. Springer Healthcare assumes no responsibility for any injury or damage to persons or property arising out of, or related to, any use of the material or to any errors or omissions. Please consult the latest prescribing information from the manufacturer for any products mentioned in this material.