Background: CFTR-Related Metabolic Syndrome/ Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CRMS/CFSPID) is the diagnosis in infants who have a positive Cystic Fibrosis (CF) newborn screen (NBS), 2 CF-causing mutations, and borderline or normal sweat test. NY State implemented a new CF NBS algorithm (IRT-DNA-SEQ) in December 2017 with significant improvement in positive predictive value. This algorithm also resulted in detection of more CRMS cases. For these infants repeat sweat testing is recommended at 6, 12, and 18 months to monitor for risk of rising sweat chloride over time and 6-48% of infants with CRMS develop clinical features suggestive of CF. Infants with CRMS and sweat test results in the normal range are often lost to follow and parents were unwilling to return for recommended repeat sweat testing during the statewide lockdown during the peak of COVID-19 pandemic. We recognized the practice gap exacerbated during the pandemic and underscore the importance of establishing a medical home in a CF Center for longitudinal care. Methods: Retrospective analysis of infants with CRMS from December 2017 to December 2020 were collected by 10 NY CF Centers and the NBS program with NYU as the data collection and statistical analysis site. Infants with CRMS without repeat sweat chloride testing at 6 months of age were considered lost to follow up, and their parents were contacted via mail or telephone. Families completed a questionnaire that was developed with the assistance of CF Voice to evaluate parental understanding of CRMS and the recommendation for repeat sweat chloride testing. Primary care providers (PCPs) caring for infants with CRMS were also contacted and provided educational materials about CRMS. A subcommittee of CF Center Directors met to develop a statewide approach for the management of infants with CRMS. Results: Of 350 infants diagnosed with CRMS, 179 (51.1%) infants were lost to follow up. As an outcome of this QI effort 31 (17.3%) were scheduled for repeat sweat tests and follow up at CF Centers. This QI effort explored the knowledge and practice gap among PCPs with limited understanding of the implications of a CRMS diagnosis. CF Center Directors subcommittee issued a consensus statement regarding evaluation and follow up for infants with CRMS in NY. Conclusions: This QI effort effectively recaptured infants with CRMS previously lost to follow up. Consensus recommendations for CRMS include annual visits until 2-6 years of age for repeat sweat testing and in adolescence to educate the patient about clinical and reproductive implications of CRMS.

Objectives: Airway clearance therapy (ACT) is an important component of therapy for cystic fibrosis (CF) but is associated with significant treatment burden. Highly effective CFTR modulator therapy (HEMT) has improved pulmonary function for many people with CF(pwCF). We sought to understand changes in attitudes and practices about ACT in the post-HEMT era. Study design: Surveys of CF community members and CF care team members Methodology: Separate surveys were created for the CF community and CF care providers to evaluate attitudes towards ACT and exercise in the post-HEMT era. We solicited answers from pwCF via the CF Foundation’s Community Voice and from CF care providers via CF Foundation listservs. Surveys were available between July 20 and August 3, 2021. Results: Surveys were completed by 153 community members (parents of children and pwCF) and 192 CF care providers. Belief that exercise can substitute partially for ACT was endorsed similarly by community members (59%) and providers (68%) . After starting HEMT, 36% of parents of children and 51% of adults did fewer ACT treatments including 13% who stopped ACT. Adults reported altering their ACT regimen more than parents of children. Half of providers had changed their ACT recommendations for those on HEMT. Fifty-three percent of respondents had discussed changing ACT with their care team (36% of parents, 58% of pwCF). Conclusions: Providers should be aware that ACT management changes may have been undertaken by pwCF who have pulmonary benefits of HEMT. Treatment burden should be considered in co-management decisions regarding ACT and exercise.

CFTR (cystic fibrosis transmembrane conductance regulator) modulators are small molecules that directly change the CFTR protein, improving function of the CFTR chloride channel. Beginning in 2012 with the FDA approval of the first CFTR modulator, ivacaftor, this class of medication has had largely positive effects on many outcomes in people with cystic fibrosis (pwCF), including lung function, quality of life, and growth. There have been continued exciting developments in the current research on CFTR modulators, expanding beyond original studies. This first part of a three-part Cystic Fibrosis (CF) Year in Review 2020 will focus on research on CFTR modulators. Subsequent parts of the CF year in review will cover pulmonary and infectious inflammatory aspects, and the multisystem effects of CF in the 2020 literature. The review focuses on articles from Pediatric Pulmonology, but it includes articles from other journals that are of particular interest to clinicians. New developments in CF research continue to be brought forth to the CF community, deepening the understanding of this disease and improving clinical care.