Just how patient-centric is R&D? The desperate need for accessible rare disease data

| by Tamsyn Frost

There is much talk today about patient-centricity in the clinical trials, from discussions about how to ease the burden for patients, to how to empower and engage patients. But to my mind a central aspect of patient centricity that is poorly addressed is how patients and advocacy groups get better access to medical research, or even pharmaceutical companies, or how a small advocacy group would go about building a registry.

There is very little clear, understandable information in the public domain that would help rare disease patients or their carers in their search for studies or support. Many carers are struggling at home with a critically ill child with a rare disease and no one to provide them with information or support.

In my search, I came across a guide on the Patient Engagement Management Suite site that offered some good examples, with case studies and recommendations for how pharmaceutical companies and patient groups should interact. But while it was interesting, I struggled to find relevant information with any clear actions that would be useful for a lay person. The language used was complex and sophisticated, which is great for scientists and those working in the industry, but not particularly useful for carers and patients desperately seeking help.

The reality is when the industry is designing patient information sheets or instructions, they must consider the reader age of the market they are trying to reach, and in the UK and the U.S., that’s around the age of nine. That is the lay understanding that the industry needs to cater to, which can be hard for someone who understands the subject deeply. Once someone takes the time to explain to a parent or carer what they need to know about their child’s illness and what support is available, those people are extremely proactive in expanding their knowledge and advocating for their child, but they need the support from someone with knowledge about the condition or similar conditions, who is able to educate them in a way they can easily understand, to get them started.

Certainly, there is significant support through large rare disease organisations, such as NORD and EURODIS, but often these are unknown to anyone not in the industry. The information they are generating needs to filter down to those tiny groups of patients with ultra-rare, even the rare non-life-threatening diseases (which are often completely overlooked by industry and healthcare systems).

How, then, can the industry go about changing the way information is shared so it reaches those in greatest need? The fact is, now we have big data. Collectively as an industry – companies, regulators, and so on – we must start pulling all this information together and ensure it is centrally organised with a large database that covers potential symptoms and genetic links. That information must be properly regulated and managed by the regulators or healthcare systems within each country, and there must be international collaboration to ensure those ultra-rare diseases, which may only affect 10 (or fewer) people worldwide, are accounted for.

With large, easily accessible, well-managed disease databases, carers and patients can get the support they need from their local doctor, who otherwise will likely have had no exposure to a rare disease. Certainly, I have seen instances where doctors have carried out additional research and made connections that can be life-changing for that patient. However, without that central resource, many don’t get the help they need and their carers continue to struggle to gain the support and insight that might help them to, at the very least, get answers and potentially even get treatments that would alleviate their child’s symptoms.

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