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Accelerating Time to Treatment in Rare Disease

Chris Moore, president, Veeva Europe

Rare diseases aren’t actually rare. Every year, people’s lives are turned upside down by a diagnosis of one of 10,000 identified rare conditions, which together affect one in 10 people.1 Because a majority are genetic and appear early, half of these patients are children, and many are not expected to reach their fifth birthday.2

For patients waiting for treatment, the stakes for new medicines are high. Yet less than 5% of rare diseases have at least one approved treatment.3 Even when effective therapies and drugs exist, reaching the right patients who need them is difficult. Survey data show a long and emotional journey for those awaiting a diagnosis. It can take up to five years for adults, and nearly half will receive a misdiagnosis.4

Rare diseases challenge the standard ways of operating. They require the industry to better identify target patient populations for trials and keep them engaged throughout the study across geographies or time zones. Once a medicine is approved, it is critical to seamlessly transition from trial 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 significant progress in how medicines for rare diseases are developed and brought to market. From delivering improved site support during trials to enabling greater connectivity between medical and commercial teams, organizations are breaking down silos and cutting the time to treatment. Combined with richer healthcare data and effective medical education for physicians on symptoms and treatment options, these advances will help rare disease patients in need.

Over 50% of orphan drug trials are stopped or fail to publish results after completion.5 Often, studies can’t meet recruitment requirements, or results lead to inconclusive outcomes. At the start of a trial, sites invest a significant amount of time to keep a few participants engaged.

Alleviating the burden of accessing and managing multiple systems and complex processes can improve their efforts. For years, sites have voiced concerns about the numerous siloed tools they must navigate to keep a trial moving. As one site leader explains, navigating unintuitive technology takes time away from study execution and can make them feel like they’re asking a lot 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 caring for our patients.” Simplifying the experience of using technology and reducing the administrative burden can better meet the needs of sites and patients.

The impact could include greater patient retention during rare disease studies, an improvement that can increase 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, says, “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.”

Data unlocks efficient commercial execution

Data is core to understanding exactly where the biggest patient needs are before a launch. 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, says, “It’s crucial to take a patient perspective. This means using real-time data to understand the patient journey and identifying the two or three most influential key opinion leaders (KOLs) per country to best communicate the product across markets.”

A complexity is that rare diseases often include multiple specialties. Medical science liaison (MSL) teams need to understand complex science quickly before meetings with experts — while also managing 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 said. Access to scientific resources and activity data in one place can drive higher-quality discussions.

“Pre-call planning is crucial for MSLs before and after launch. The more data they can find, including on past interactions, the better,” Eeckhout added.

Each rare disease is unique, and there could be a lengthy gap before a patient shows potential symptoms. At this point, HCPs will want timely access to information and experts. Smoother handovers between field medical and sales ensure HCPs can get answers to rare disease questions quickly and connect to MSLs if necessary.

ADVANZ, for example, has implemented a pre-launch module in its CRM so that market access, medical, and commercial teams can exchange information effectively while remaining compliant.

“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,” Eeckhout noted.

Don’t just defy the odds, beat them

Organizations willing to embark on a lengthy, risky trial-to-treatment pathway can deliver scientific breakthroughs to deliver hope to rare disease patients and their families. Through better support for sites, companies can free up research staff 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. Prioritizing these approaches can help reduce the time to treatment. Every rare disease patient faces a complex and uncertain journey.

As one biotech leader says, “Their diagnosis is with them every day. Often, they can’t pronounce the condition and don’t know anyone else who has it.”

Life sciences will continue to do its part to help these people defy the odds—and eventually beat them.

About the Author

Chris Moore, president, Veeva Europe.


  1. NIH, Genetic and Rare Disease Information Center, 2024
  2. Source: Global Genes, ‘Rare Disease Facts
  3. European Commission, The Building Blocks to Make Rare Disease Treatment More Common, 2022
  4. Source: National Library of Medicine, Orphanet Journal of Rare Diseases, ‘The diagnostic odyssey: insights from parents of children living with an undiagnosed condition’, 2022
  5. Source: National Library of Medicine, PLOS Medicine, ‘Noncompletion and nonpublication of trials studying rare diseases: A cross-sectional analysis’, 2019