Access to service | Numerous visits to medical professionals before appropriate referral [28] | Development of screening through clinical predictive tools [3, 10]; ERS guidelines with clear patient referral criteria [30] | Clinical predictive tools developed in specialist setting; adoption of referral criteria by GPs and general paediatricians | Validation of screening tools in appropriate settings; dissemination to nonspecialists through support groups, conferences and media |
Early diagnosis | Majority of PCD patients present with unexplained NRD syndrome | Studies investigating combination of neonatal symptoms to predict PCD [6] | Limited literature on neonatal symptoms in PCD | Increase involvement of neonatologists in collaborative PCD studies |
Clinical manifestations | Limited knowledge on prevalence of symptoms | Meta-analysis reporting prevalence of clinical manifestations [1] | Lack of standardised definitions for symptoms; lack of reporting of symptoms | Develop definition of PCD symptoms; improve reporting of symptoms in future studies |
Diagnostic testing | Recommendations on diagnostic testing | Classification system derived from the ERS guidelines on diagnostic testing for PCD [30] | Lack of standardisation on test reporting; no diagnostic studies on genotyping | Develop protocols for diagnostic test reporting; clarify role of genetics, IF and EMT on diagnostic pathway |
PCD management | Mainly extrapolated from CF and non-CF bronchiectasis [12, 48] | Limited number of prospective cohorts [34, 54, 55, 74] and RCTs [62, 63, 66] | Lack of standardised and validated outcome measures; no definition for commonly used terms | Develop clear definition of terms and outcome measures |
Future therapies | New advancements in CF on molecular and gene therapy [97, 100] | Approval of two new therapies targeting the underlying defect in CF [98, 99] | Complexity of PCD genetics | Improve gene identification; genotype–phenotype correlations |