Worldwide Patient Registry Launched for Primary Ciliary Dyskinesia

Worldwide Patient Registry Launched for Primary Ciliary Dyskinesia

The European Lung Foundation has announced the launch of the first international patient registry for primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder leading to chronic and recurring upper and lower airway infections and for which there are no approved treatments.

The foundation, also known as ELF, says that although progress has been made in understanding PCD in recent years, fundamental data are lacking lack on the number of cases of the disease, how it affects different people, and the effects of different treatment options. Patient registries are effective tools to collect data from people with rare diseases to assess disease condition, development, and response to treatments.

PCD occurs when a child inherits a faulty gene from parents. A genetically heterogeneous disorder that affects approximately 1 in 20,000 individuals, PCD results from dysfunction of hair-like organelles called ciliatiny (cilia) — the microscopic moving structures lining the airways, ears, and sinuses that are responsible for cleaning our upper and lower airways. Symptoms can include inability to remove mucus from the lungs, persistently blocked nose, and sinusitis. It may lead to diffuse bronchiectasis (widening of the bronchi) and eventually to long-term respiratory failure.

In this new study, published online Dec. 9, 2015, in the European Respiratory Journal, researchers describe how they established an international online platform to systematically collect data on cases of PCD diagnoses, symptoms displayed by patients, and disease treatment and progression. The study is titled simply An international registry for primary ciliary dyskinesia (DOI: 10.1183/13993003.00776-2015).

The researchers note that fundamental data on PCD epidemiology, clinical presentation, course, and treatment strategies are lacking, and the international PCD registry’s purpose is as a new promising tool to advance understanding of this rare disorder, to recruit candidates for research studies, and ultimately to improve PCD care. The registry realizes the unmet need for an international platform to systematically measure, survey, and compare different aspects of PCD manifestation and treatment, collect data on incidence, clinical presentation, and disease course, and to provide data for epidemiological research and to identify special patient groups suitable for multicenter trials.

WernerCDr. Claudius Werner, lead author of the study from the University Hospital Münster in Germany, notes that there are numerous uncertainties related to PCD diagnosis and treatment, observing: “We believe this new online tool will advance our understanding of this rare disorder, help us recruit candidates for research studies and ultimately improve care for PCD patients.We will continue to build on the data in the registry by recruiting more referral centres to support this work, recruiting more patients and cleaning the data ready for analysis and a full comprehensive report of all items collected. We also plan to establish regional registry administrators to further disseminate knowledge about the registry and to facilitate access to the registry for patients from countries currently outside the current consortium.”

The team worked closely with leading clinicians across the world and collaborated with several patient organizations. The registry was launched in January 2014, using Internet technology to ensure easy online via Data from more than 200 patients have been collected so far. Patients are recruited by their healthcare professional once written consent has been obtained. The database is composed of a basic data form, including demographic and diagnostic information, and visit forms designed to monitor the disease course, and data will continue to be collected and used for benchmarking projects to help improve PCD diagnosis and management for an estimated 20 years. The registry will also serve as a platform to recruit patients for clinical trials to help develop new treatments.

CopelandFFiona Copeland, a member of the European Lung Foundation patient network and chair of the PCD Family Support Group, says, “We are very pleased that there is now a registry for PCD patients.” Ms. Copeland, who left a successful career in banking following diagnosis of both her sons with PCD, also notes, “We are hopeful it will help clinicians better understand the condition so that research can be targeted to improve the diagnostic tests and treatments for the benefit of patients.”

In a paper published earlier this year in the journal Cilia and titled “Diagnosis and management of primary ciliary dyskinesia” (Cilia 2015, 4:2 doi:10.1186/s13630-014-0011-8), Dr. Werner with colleagues Jörg Große-Onnebrink and Heymut Omran note that diagnosing PCD requires a combined approach utilizing characteristic phenotypes and complementary methods for detection of defects of ciliary function and ultrastructure, measurement of nasal nitric oxide, and genetic testing.

They observe that currently, biallelic mutations in 31 different genes have been linked to PCD, allowing a genetic diagnosis in approximately 60% of cases, and that management includes surveillance of pulmonary function, imaging, and microbiology of upper and lower airways, in addition to daily airway clearance and prompt antibiotic treatment of infections. The investigators also emphasize that early referral to specialized centers using a multidisciplinary approach is likely to improve outcomes, but that, currently, evidence-based knowledge on PCD care — let alone management guidelines — is missing. Research and clinical investigators, supported by European and North American patient support groups, have joined forces under the name of BESTCILIA, a European Commission-funded consortium dedicated to improve PCD care and knowledge. Core network programs include the establishment of the international PCD registry, the generation of PCD quality of life questionnaires, and the first randomized controlled trial in PCD. The main goal of BESTCILIA is to characterize the clinical course and improve the diagnosis and treatment of PCD patients, and the organization points to marked discrepancies among European countries in the availability of PCD diagnostic services. It intends to generate standard operation procedures (SOPs) and introduce standardized diagnostic testing in countries where they are not now available.

bestciliaBESTCILIA has been designed in close consultation with patient organizations, notably the Dutch, German, Swiss, Polish and American patient support groups, assuring that the patient perspective is considered in all aspects of the project. More information is available at

The Patient Registry for Primary Ciliary Dyskinesia is also registered with with identifier number NCT02419365, sponsored by University Hospital Münster, under the official title: “Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease.”

The European Lung Foundation
The European Respiratory Journal

University Hospital Münster


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