First randomized, controlled trial of pharmacotherapy in PCD patients now in place

Primary ciliary dyskinesia (PCD) is a rare, genetic respiratory tract disorder leading to progressive pulmonary dysfunction. It exhibits many problems typical for orphan diseases: delayed diagnosis, limited evidence-based knowledge etc. The European Union is funding BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia) to introduce uniform guidelines for PCD treatment and diagnosis across Europe. The latest notable accomplishment of the consortium is the initiation of the first randomized controlled trial in this disease.

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. At present, all treatment is off-label, with no orphan drug available. BESTCILIA aims to perform the first randomized controlled trial (RCT) on pharmacotherapy in PCD in order to develop evidence-based treatment practices for the disease.

A potential hope for maintenance prophylactic therapy for PCD is azithromycin (AZN): an antibiotic with a host of beneficial anti-infection properties. The trial will evaluate its efficacy and potential adverse effects in patients, with respect to such outcome measures as the pulmonary exacerbation rate and PCD-specific quality of life.

Following a year of meticulous preparations BESTCILIA partners involved in this research have made it possible to commence the trial in 5 countries: Denmark, Germany, the Netherlands, Switzerland and the UK. Patient recruitment has been set in motion; particular success was noted in Denmark, with as many as 15 patients randomized and already treated with azithromycin. First screening visits are also planned in Germany and the Netherlands, where also PCD centers not included in Bestcilia, have shown interest in participation. The goal is to include 125 patients, which is a relatively large cohort for such a rare disease.

These notable achievements of the BESTCILIA researchers were recently presented and further progression was discussed at an international PCD conference in Cracow, Poland, which was organized by one of Bestcilia partners, the International Institute of Molecular and Cell Biology in Warsaw.

Source: International Institute of Molecular and Cell Biology