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Updated: Dec 8, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

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Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

Suzanne Crowley1, Inês Azevedo2,3, Mieke Boon4

  • 1Paediatric Dept for Lung and Allergic diseases, Oslo University Hospital, Oslo, Norway.

ERJ Open Research
|September 23, 2020
PubMed

Insights

Primary ciliary dyskinesia (PCD) treatment lacks evidence. A European clinical trial network and n-of-1 trials are proposed to improve medication access and research for this rare bronchiectasis-causing disease.

Area of Science:

  • Rare diseases research
  • Clinical trial methodology
  • Respiratory medicine

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder.
  • PCD causes chronic respiratory issues, including bronchiectasis.
  • There is a significant lack of evidence-based treatment options for PCD.

Discussion:

  • The @beatpcd initiative highlights critical unmet needs in PCD care.
  • Establishing a European clinical trial network is crucial for collaborative research.
  • N-of-1 trials offer a personalized approach to evaluate existing medications for rare diseases.

Key Insights:

  • A unified European network can accelerate PCD clinical research.
  • N-of-1 trials can provide individualized treatment efficacy data.
  • Addressing the evidence gap is essential for improving patient outcomes in PCD.

Outlook:

  • The proposed network and trial designs aim to foster innovation in PCD treatment.
  • Increased collaboration can lead to standardized care protocols.
  • Future research should focus on expanding therapeutic options and improving quality of life for PCD patients.

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