Thinking August 8th, 2023

Rare insights and empathic approaches

Venetia Calcott
By
Venetia Calcott Head of Human Factors

Rare diseases affect a small fraction of the population but have a significant impact on the lives of those directly and indirectly impacted.

Recent advancements in medical science, combined with growing public awareness, have significantly increased the opportunities and access to effective therapies for rare diseases, but the particular challenges for patients demand new approaches to achieve treatments that are inclusive, accessible, safe and effective.

Key challenges of rare diseases include:

  • The majority of rare diseases currently have no effective treatment
  • 99% of genetic conditions are classed as rare
  • On average, it takes over four years to receive an accurate diagnosis of a rare disease. (Collaboration: A Key To Unlock The Challenges Of Rare Diseases Research February 2021)

Enhancing patient quality of life

Rare disease medication research instils hope in patients and their families who often grapple with the uncertainty and challenges posed by their condition. Nothing is more humbling than listening to the stories of these patients who have spent so long trying to get a diagnosis only to find there is nothing specifically on the market for them. The enthusiasm we get when performing a study with a rare patient, their excitement to be involved in the process and appreciation for being heard, is overwhelming.

By investing in research, we enable the development of targeted therapies that can alleviate symptoms, slow disease progression, or even offer a cure. These advancements significantly improve the quality of life for patients, providing them with new treatment options and the chance to lead fulfilling lives.

Awareness

Many people have no connection to these conditions and know little about the daily struggles rare disease patients and their carers have to overcome. With the rise of video social media, the public are beginning to see the journey these patient groups are on and the importance of their medication.

More and more rare disease patient advocates are now sharing their stories and the difficulties that they face, not just in daily life but even accessing their medication. One great example is the progress in medication for spinal muscular atrophy (SMA). Spinraza was approved by the U.S. Food and Drug Administration (FDA) in 2016 and revolutionised the treatment of SMA. By targeting the underlying cause of SMA, Spinraza has shown remarkable results, improving motor function, reducing the need for ventilation, and significantly extending the lifespan of patients. However, Spinraza is injected into the spinal fluid through a lumbar puncture, or spinal tap. This requires patients to come in every 4 months and undergo an uncomfortable 2-hour procedure.

Wheelchair Rapunzel

In 2020, Evrysdi was approved, the first oral suspension medication available to SMA patients. This development ensures patients no longer have to travel and can independently medicate themselves from the comfort of their own homes. Influencers such as the ‘Wheelchair Rupunzel’ have documented their journey with SMA and brought insight to the general population on how important independence, control and options matter when administering medication. The continued development of SMA medication has given her the opportunity to travel, live independently and even successfully carry and give birth. There are numerous other stories highlighting how new medications have changed people’s lives.

Commercial benefits

Rare disease medications often serve niche patient populations, but the growing understanding and awareness of these conditions have led to an increase in diagnosis rates. Pharmaceutical companies investing in rare disease research have the potential to tap into expanding markets, driving commercial success while addressing unmet medical needs.

Recognising the unique challenges associated with rare diseases, regulatory agencies around the world have introduced incentives to encourage research and development. These incentives include extended market exclusivity, fast-track approvals, and reduced regulatory requirements, which not only facilitate the development of rare disease medications but also provide commercial advantages for pharmaceutical companies.

Companies engaged in rare disease medication research often garner a reputation for innovation, compassion, and patient-centricity. This fosters trust among patients, healthcare providers, and the wider community, strengthening the company’s brand.

The Ensera Design team are experienced with the design and human factors testing of a number of rare disease pharmaceutical products. Key elements to successful approach includes:

  • Research recruitment: People with rare diseases can be hard to find. We have developed creative approaches to recruiting research participants such as fostering links with charities and patient groups, yielding greater understanding of the condition as well as additional benefit.
  • Accessible design: Many rare disease patients cope with sensory and physical impairments requiring an empathic approach to the design of devices, packaging and instructions for use.
  • Empathic approach: As well as designing for user needs, we take a human-centred approach to the design of human factors research to gain accurate and rich insights which respect the broad needs of the people we are designing for.

Developing products in this space is hugely challenging but greatly rewarding. Our team achieves satisfaction seeing any medication get to market, but the projects relating to rare diseases will always bring back memories of patients who were grateful to see pharmaceutical companies investing in their disease and the amazing impact that just one medication can make. ‘Rare’ says it all. The pool of potential users may be relatively small but the reward is large and important.

Images from Evrysdi.

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