A new hope

Accelerating treatment pathways for rare disease patients

Every year, thousands of people face a diagnosis of one of the six to eight thousand identified rare disease conditions.

The majority of rare diseases are genetic, and over half of patients suffering from them are children. Today, less than five percent of rare diseases have even a single approved treatment, and accessing the right medical treatments can be a significant challenge for many.

Diagnosis for adults with a rare disease can take up to five years, and half will receive misdiagnoses along the way. The need for increased awareness, research and expedited treatment pathways in rare diseases remains critical.

Rare diseases challenge traditional ways of doing business. They require the industry to identify target patient populations for trials and then keep them engaged during the course of the study, even across geographies.

Once a medicine is approved, it is crucial to seamlessly transition from trials to treatment given the smaller patient cohort, as the physicians who conduct the trials often become prescribers.

The good news is that the industry is making great progress in how medicines for rare diseases are developed and brought to market.

From delivering better site support during clinical studies to greater connectivity between medical and commercial teams, companies are breaking down historic silos and cutting the time to treatment.

Along with richer healthcare data and effective medical education for physicians on symptoms and treatment options, these advances will help those undergoing complex patient journeys.

To speed up the time to treatment in rare diseases, it’s vital to address the challenges associated with diagnosis and access to care.

Many rare diseases remain difficult to diagnose, leading to delays in starting the right treatment.

Overcoming diagnostic hurdles faced by patients with rare diseases includes raising awareness among healthcare professionals about the signs and symptoms of rare conditions, promoting the use of advanced diagnostic technologies such as genetic testing and molecular imaging, and streamlining the referral process for patients suspected of having a rare disease.

Efforts can also be made to improve access to specialised healthcare services and expertise, particularly in underserved regions where diagnostic and treatment facilities may be limited.

Digital platforms can play a pivotal role in connecting patients with rare diseases to specialists to overcome geographical barriers and facilitate timely diagnosis and intervention.

Over half of orphan drug trials are eventually discontinued or fail to publish results after completion. When a trial gets off the ground, sites have to invest significant time in keeping a small number of participants engaged.

Removing excessive system and process complexity can help to improve these efforts.
For years, sites have voiced their concerns about the multiple disconnected tools they have to navigate just to keep a study going.

As one site leader explains, navigating unintuitive technology absorbs time from trial activities, and can make leaders feel like they’re asking too much from patients: “The technology shouldn’t be the trial itself, it should support the trial. It’s taking time away from what we want to do, which is taking care of our patients.”

Simplifying the technology experience and reducing the admin burden will better meet sites’ and patients’ needs.

This could result in better participant retention during rare disease trials and give more patients access to life-enhancing new treatments. Reflecting on her own experiences as a rare disease patient, Helen Shaw, co-founder of the virtual site VCTC, observed: “I see how hard it is to take part in a clinical trial. But patients do want that opportunity to be offered something that they wouldn’t get in their standard care, whether additional MRIs or new medicines.”

Ahead of a launch, we need data to understand where the greatest patient needs are.  Advanz Pharma is a global biopharma company focused on specialty, hospital and rare disease medicines.

Andy Eeckhout, head of CRM and digital solutions for global commercial excellence, explained: “It’s crucial to take a patient perspective.

“This means using real-time data to understand the patient journey and identify the two or three most influential key opinion leaders (KOLs) per country, so we can best communicate the product across markets.”

An added complexity is that rare diseases often involve multiple specialties. Medical science liaison (MSL) teams have to get up to speed quickly on complex science before meetings with relevant experts – while also being responsible for other more mainstream disease areas.

“Our customer-facing teams need to be agile communicators and effectively switch to a more patient-oriented, in-depth scientific discussion than with generics,” Eeckhout added.

Access to scientific resources and activity data in one place leads to higher-quality conversations. “Pre-call planning is crucial for MSLs before and after launch. The more data they can find, including on past interactions, the better,” he concluded.

Depending on the disease, there could be a significant amount of time before a patient presents with potential symptoms, at which point HCPs will want timely access to experts and resources.

Smoother handovers between field medical and sales ensure HCPs can find answers quickly and connect to MSLs if needed. Advanz, for example, has launched a pre-launch module in its CRM so that market access, medical and commercial teams can share information compliantly and effectively.

Andy notes: “Physicians need a direct line to the industry so they know who to contact when they have questions. Medical and commercial teams need to talk to each other and remain agile across customer conversations.”

Highly personalised content for HCPs is also key when targeting diseases with small patient populations.

To be effective, marketing teams need clarity on the most impactful content to recommend for field visits across markets.

For example, Recordati Rare Disease uses data analytics on its global repository of promotional and medical engagement tools, so it can support content use across a portfolio of 17 rare disease medicines of focus (and a growing global footprint).

As its head of marketing and customer engagement, Gordon Daniels, noted: “How we engage with HCPs is critical.

“We need to know what percentage of our content is being developed and relevant to support different HCPs, whose patients rely on them for their rare disease diagnosis and management,” he elaborated.

Every rare disease patient faces a daunting journey. As one biotech leader points out: “Their diagnosis is with them every day. Often, they can’t pronounce the condition, and don’t know anyone else who has it.”

Scientific breakthroughs that could bring hope to these patients come from organisations willing to embark on a long and risky trial-to-treatment pathway.

Companies are reducing the time to treatment through better support for sites, freeing them up to focus on patient recruitment and retention during trials.

Once a drug is approved, connected technology and deep data can facilitate collaboration between functions that have not historically worked together so they can identify, engage, and provide medical education to relevant HCPs and KOLs.

The life sciences industry is making great strides to help rare disease patients defy the odds – and eventually beat them. 

Chris Moore is President at Veeva Europe. Go to veeva.com