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

Abstract

Primary ciliary dyskinesia, a rare disease causing bronchiectasis, lacks a sound evidence base for treatment. @beatpcd proposes 1) forming a PCD European clinical trial network to address this situation and 2) conducting n-of-1 trials to access medication. https://bit.ly/3j5blfM Cite this article as: Crowley S, Azevedo I, Boon M et al. Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia.

Current and Future Treatments in Primary Ciliary Dyskinesia

“…These important studies provide a more detailed characterization of the disease course and will guide patient diagnosis and treatment, as well as help identify eligible patients for RCTs [ 26 , 27 , 28 ]. Such international platforms, together with improved diagnoses in adult patients and engagement with patient support groups, are key in developing and testing current and novel treatment approaches in PCD [ 25 , 29 , 30 ]. To this end, a clinical trials network was established within ERN-LUNG (CTN-PCD), including 22 clinical trial sites in 12 countries in Europe and the United Kingdom and over 1200 adult and 1400 pediatric individuals with PCD so far.…”

“…Although the study nearly reached the target sample size, it was underpowered as the variability in outcome measures was larger than anticipated. Unfortunately, based on the negative findings on the primary outcome measure, several insurance companies have concluded that hypertonic saline is not effective in PCD and do not reimburse this medication [ 29 ]. Further, PCD HR-QOL did not exist at the time.…”

Rare disease patients’ needs: an up-to-date analysis and future directions

“…Various legislative measures were implemented to improve the availability of medicines for rare diseases such as centralized procedure for marketing authorization in the European Union (EU), designation of orphan status for medicines, early access programs, accelerated assessment, incentives for the companies to develop medicines for rare diseases (Regulation EC 2000). Despite these measures, many researchers warn for delayed and unequal access of patients with rare diseases to diagnose, treatment and medical care (Kamusheva et al 2013;Szegedi et al 2018;Bourdoncle et al 2019;Iriart et al 2019;Stepien et al 2019;Vieira et al 2019;Zamora et al 2019;Crowley et al 2020;Czech et al 2020;Denis et al 2010;Koçkaya et al 2021). The restricted access to medicines is mainly a result of the differences in the national reimbursement and pricing policies, type of healthcare and health insurance system, patient co-payment, reimbursement timelines and evidence requirements within the EU (Zwart-van Rijkom et al 2002;Annemans et al 2017;Medic et al 2017).…”