Pediatr Pulmonol. 2026 Nov;61(11):e71888. doi: 10.1002/ppul.71888.
ABSTRACT
Primary Ciliary Dyskinesia (PCD) exemplifies how international collaboration can transform the study of a rare disease. Since the identification of the first PCD-associated genes in 1999-2002, parallel developments in Europe and North America, driven by patient organizations, academic investigators, and coordinated funding initiatives, have progressively converged into a unified global research infrastructure. Early milestones included the founding of patient advocacy groups, the NIH-funded Genetic Disorders of Mucociliary Clearance Consortium, and European projects such as EUCILIA and SYSCILIA, which respectively established coordinated clinical research infrastructure and advanced ciliary systems biology. The 2012 EU-funded BESTCILIA project formalized transatlantic collaboration, establishing the International PCD Registry and iPCD Cohort, generating the first robust diagnostic evidence base, and enabling the first multinational randomized controlled trial in PCD. This infrastructure was subsequently sustained and expanded through the BEAT-PCD COST Action and its successor ERS Clinical Research Collaboration, the ERN-LUNG PCD Core Network, and the PCD Clinical Trial Network, alongside parallel North American developments including the PCD Foundation Clinical and Research Centers and PCDF Network for Clinical Trials. Together, these initiatives have harmonized diagnostic pathways, produced joint ERS/ATS diagnostic guidelines, and created durable platforms for multinational trials and registries. Dedicated scientific meetings, culminating in the planned 2026 Global PCD Congress, further embody this convergence. Despite this progress, disparities in global representation and diagnostic access remain, underscoring the need for continued international coordination as the field moves toward precision medicine approaches.
PMID:42952283 | DOI:10.1002/ppul.71888