PCD Research

Advocating for Equitable Care for People with Primary Ciliary Dyskinesia (PCD)

One of the specific purposes of PCD Research is to advocate for an effective care regime and therapies for individuals with PCD. Despite advancements in understanding PCD, significant disparities in healthcare outcomes and services persist globally compared to similar conditions such as cystic fibrosis (CF).

Why does this matter?

1. Worse Outcomes for Children with PCD than Cystic Fibrosis.

Children with PCD have been observed to have worse health outcomes than those with cystic fibrosis (CF). before starting disease modifying CFTR modulator treatments like Trikafta.

In 2020, the four centres in England that treat children with PCD published findings showing that even before disease-modifying therapies like Trikafta, outcomes for children with PCD were worse than for those with CF. Download and read their publication below.

Similar findings were recently published by an American group, that you can download and read below.

With the advent of CFTR modulators like Trikafta for CF, (these don’t work for people with PCD), the outcomes for people with CF and PCD are set to diverge significantly over the next decade, leaving people with PCD even further behind.

2. Adult outcomes of PCD

Long-term data on PCD outcomes are limited, but over 56 genes are known to cause PCD, leading to variable disease severity. Certain genotypes, such as CCDC39 and CCDC40 are associated with particularly poor outcomes.

Studies show people with PCD have lung disease that leads to decreased lung function (FEV1), which is associated with increased risk of premature death. In some studies lung function appeared to stabilise in middle age, but this could be because some people with more severe lung disease may have already passed away or received a lung transplant.

Regardless, lung function decline in PCD follows a similar course to CF.

Download and read the full study below.

Natural history studies for the different genes that cause PCD are need to understand outcomes in more detail.

3. Lack of Evidence Based Treatments

Current treatments for PCD (bronchodilators, airway clearance and antibiotics) remain largely unchanged since the late 1970s.

A recent study looked at three groups of children, those who were (1) diagnosed early (<1 year); (2) those who were diagnosed between 1-7 years and (3) those who were diagnosed late (8-14 years). They found that there was some benefit from being diagnosed earlier.

However, there was no significant difference in annual lung function decline between these groups once diagnosed. This highlights the urgent need for treatments that can slow or stop lung function decline in people with PCD.

Improving Services for People with Primary Ciliary Dyskinesia (PCD)

Despite evidence of the severity of PCD, services for PCD remain significantly under-resourced compared to care for people with CF. Feedback from patients and healthcare providers reveals critical gaps:

• Limited emergency services and delayed access to essential treatments such as home intravenous antibiotics.
• Lack of advanced medical devices, like fast and efficient nebulisers and airway clearance equipment.
• Inadequate psychological and nutritional support.
• Poor availability of genetic counselling and limited access to genetic testing.
• A shortage of coordinated multidisciplinary care teams for people with PCD.

What Needs to Change

To improve outcomes and equity for people with PCD, the following actions are essential:

Research Priorities:

• Conduct natural history studies to better understand long-term outcomes for people with PCD, particularly across different genotypes.
• Develop evidence-based treatments that prevent or slow down the formation of lung damage.

Enhanced Clinical Services:

• Provide people with PCD access to emergency specialist care.
• Provision of advanced medical devices to reduce the burden of daily treatment.
• Access to a standard of multidisciplinary team support equivalent to that received by people with CF..
• Ensure psychological and nutritional support is a core part of PCD management.
• Access to home intravenous antibiotics and necessary community support.

Policy Advocacy:

• Policy makers must prioritise people with PCD within national healthcare frameworks, recognising its severity and unmet needs.
• In the UK respiratory diseases are prioritised in the NHS Long Term Plan, and these actions are aligned with the plan.
• Read the PCD Research White Paper on management of PCD.

Call to Action: Advocate for Change

Every person with PCD deserves access to high-quality, proactive and personalised, evidence-based care to lead a life less hindered by their condition. In 2026 we will be launching ways you can get involved – sign up below so you are first to hear how you can help.