Owen Marks
Head of Rare Diseases, Pfizer UK
The Government recently launched a call for evidence to inform its major conditions strategy and pointed to cardiovascular disease as one of the key major conditions that it will aim to make improvements in.1
In the UK, over a million people are currently living with heart failure2 – where the heart is unable to pump blood around the body properly and gradually becomes too weak or stiff to function properly.3
Rare causes of heart failure
While heart failure tends to be caused by conditions such as coronary heart disease, high blood pressure and disease in the heart valves, it’s important we look at tackling some of the rarer causes of heart failure such as lung disease, heart rhythm disorders and cardiomyopathies.3
I want to focus in on one of those areas, cardiomyopathy, which is a disease of the heart muscle. ‘Cardio’ means heart, ‘myo’ means muscle and ‘pathy’ means disease.4 It isn’t a single condition but a group of conditions that affect the structure of the heart and reduce its ability to pump blood around the body and can ultimately lead to heart failure.4
In the UK, over a million people are
currently living with heart failure.
Addressing gaps in rare and ultra-rare conditions
The current challenge is that like many rare diseases, cardiomyopathies can often take a long time to detect, diagnose and treat5 – it’s another example of the rare disease gap, which exists for people living with rare conditions. Even once diagnosed, there is often a lack of reimbursed treatment options as rare disease treatments can fall through the gaps of NICE’s current appraisal routes, which tend to only cater for ultra-rare conditions or more common conditions.6
It’s important that we remain hopeful on the progress that can be made for people living with cardiomyopathies and rare diseases more generally. The first rare disease action plan for England was published in 2022 and set out a vision for delivering improvements in diagnosis, awareness, treatment and care.7
At Pfizer, we will continue to advocate for progress. We will continue to push ahead with our science expertise, to expedite the time taken to develop these medicines and to push for reform of how these medicines are assessed so that, ultimately, they reach the patients who need them.
This article has been developed and funded by Pfizer UK.
PP-UNP-GBR-6418 | September 2023
[1] Department of Health and Social Care (DHSC). Major conditions strategy: call for evidence – GOV.UK (www.gov.uk) Last accessed: August 2023
[2] British Heart Foundation (BHF) Facts and figures – Information for journalists – BHF Last accessed: August 2023
[3] NHS. Heart failure – NHS (www.nhs.uk) Last accessed: August 2023
[4] Cardiomyopathy UK. What is Cardiomyopathy? What is cardiomyopathy? | Cardiomyopathy UK Last accessed: August 2023
[5] Cardiomyopathy UK. Public Change Agenda. Public Change Agenda_FINAL.pdf (cardiomyopathy.org) Last accessed: August 2023
[6] Trim J, Nair M & Large S. HTA238 Uncovering the Hidden Rare Disease Gap Within NICE Appraisals. Value in Health 2002;25:12(Suppl): S343. HTA238 Uncovering the Hidden Rare Disease Gap Within NICE Appraisals – Value in Health (valueinhealthjournal.com) Last accessed: August 2023
[7] Department for Health and Social Care. Rare Disease Action Plan. England Rare Diseases Action Plan 2023: main report – GOV.UK (www.gov.uk) Last accessed: August 2023
