Primary ciliary diskinesia (PCD) is a rare, genetic respiratory tract disorder leading to progressive lung dysfunction. It exhibits many problems typical for orphan diseases: delayed diagnosis, limited evidence-based knowledge etc. To address these issues, the European Union is funding BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia) to create uniform guidelines for PCD treatment for implementation across Europe. The latest notable accomplishment of the initiative is the establishment of the international patient registry.
As is typical for orphan diseases, PCD has only been studied to a limited extent. Most therapeutic strategies are derived from research on other respiratory disorders and thus imperfect and potentially hazardous, rendering the retrospective data obtained thus far from medical records insufficient. This shortcoming is to be overcome through the collection of prospective data through the patient registry, which will play a pivotal role in our efforts to advance the state-of-the-art research on PCD and disseminate the knowledge of this disease.
The registry will be used as an instrument for monitoring international trends in clinical presentation, diagnosis and long-term treatment outcomes. Patient perspective and first-hand accounts of experiences with PCD clinical management will serve as an invaluable prerequisite for improving both the research process and the quality of treatment services. Allowing for a description of the disease progression and comparison of the efficacy of various treatment regimens, the registry will be a comprehensive resource for establishing evidence-based therapeutic guidelines for PCD. The validity of data depends on recruiting a representative cohort of patients, who may later participate in future studies and randomized clinical trials.
With the aid of patient contributions, Bestcilia hopes to upgrade clinical practice, increase diagnostic accuracy and establish standardized management guidelines for PCD. In the long run, these objectives will serve to improve the quality of life in PCD sufferers and reduce morbidity and mortality rates. The registry is now open for entering patient data and the recruitment process carried out by caretakers in various partner countries of the project is underway.
IIMCB is a partner within Bestcilia project and is responsible for project dissemination.