In the UK, more people will be affected by a rare disease than the entirety of the Welsh population. To mark Rare Disease Day, which takes place today, the Global Health team discuss the potential for innovation to both support and coordinate patient care - and also to address the treatment gap for rare diseases.
Rare Disease Day is a global movement to promote equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. A rare disease affects fewer than 1 in 2,000 people, but collectively they are common. There may be as many as 7,000 rare diseases and in the UK, around 3.5 million people will be affected by one in their lifetime. Not only are there unique challenges to developing treatments for rare diseases, but patients also struggle to access new treatments. Getting a diagnosis in the first place can be a long, protracted journey, which can be both physically taxing and mentally draining for the individual.
Right now, there is momentum to address persistent challenges in the identification and treatment of rare diseases. England's first Rare Diseases Action Plan was published today and sets out actions to help patients get a diagnosis sooner, improve the coordination of care and support access to new treatments.
Earlier this month, we attended the Westminster Health Forum Conference on priorities for rare disease research, diagnosis and care in the UK. Below, we reflect on some innovation priorities that could help to move us closer to realising the aims of the framework.
Support a pipeline of novel cell and gene therapies
A transformative new category of treatments, cell and gene therapies (CGTs) have the potential to treat or even cure rare diseases that currently lack effective treatments (which is a staggering 9 out of 10). They involve extracting, altering and re-injecting cells or genetic material from the patient to provide highly personalised therapy. Gene therapies have already prevented vision loss and helped to train patients’ immune systems to fight cancer.
Despite the potential benefit CGTs offer to patients and society, innovators typically face a suite of challenges when developing and testing them. From research and development challenges, to navigating logistical and manufacturing difficulties to enabling patient access. One example is that transporting CGTs to and from patients is difficult due to their short shelf-life, which led to supply chain disruption during Covid-19 travel restrictions. 1 Find out more about the industry challenges here.
Build the evidence base surrounding remote patient monitoring
It’s no longer uncommon for patients to receive care beyond the walls of the physician’s office. Remote patient monitoring (RPM) allows healthcare providers to monitor and analyse patients’ conditions remotely. RPM - a market expected to grow to US $8741 million by 2026 - is already being used within the NHS and has helped to reduce pressure on outpatient services during the pandemic. 2 Experts have stated that the priority now is to build the evidence base surrounding RPM for rare disease patients, to understand its potential to coordinate care between providers and specialists.
Personalised health records could join the dots
Every quarter, the average rare disease patient visits at least three different clinics. 3 It’s also common for patients to travel far and wide to attend appointments to find that the information they disclose isn’t shared effectively between healthcare providers.
- McKinsey & Company (2021) A call to action: Opportunities and challenges for CGTs in Europe.
- https://www.nhsx.nhs.uk/key-tools-and-info/data-saves-lives/improving-individual-care-and-patient-safety/virtual-wards-relieving-pressure-on-the-nhs-while-caring-for-patients-at-home/
- The Rare Reality (Genetic Alliance)
Personalised health records could bring value to patients and healthcare providers alike, by enabling real-time information-sharing across the healthcare pathway. As scientific knowledge behind many rare diseases is lacking, healthcare professionals may benefit from records that describe the features of a patient’s rare disease and key complications to be aware of. Rapid rollout of electronic health records for patients accessing reproductive health services at University Hospitals Plymouth NHS Trust was shown to benefit both patients and healthcare professionals during the pandemic. If you are working on an innovation to treat a rare disease or support patient care, get in touch! Challenge Works is keen to hear from innovators currently working within rare diseases and in the CGT industry, to understand innovation barriers within the industry and to developing rare disease treatments. Get in touch by emailing the team at: info@challengeworks.org.
