Duchenne muscular dystrophy (DMD) affects fewer than one in 6,000 newborn males every year.1 This rare genetic disorder is characterized by a progressive muscle breakdown, starting with those closest to the body’s core and moving to affect the extremities.2 Historically, the life expectancy of DMD carriers barely stretched beyond the teen years. New drug therapies, however, have extended that life span well into a patient’s 40s or 50s by slowing muscular degeneration and improving cardiac and lung function. For the small group of people affected by this disease, that development brings hope and the potential to improve their quality of life immensely.
DMD drug therapy is just one example of the advances being made in the fight against rare diseases. Since Congress passed the Orphan Drug Act of 1983 in the United States, momentum has picked up rapidly. In particular, in the past decade, some large pharmaceutical companies have refocused their portfolios to include therapies catered to treating these conditions, and others have focused on creating more solutions within their established rare disease portfolios. The past few years have also seen a discernible spike in mergers and acquisitions in this area. In 2021 alone, three deals of more than $10 billion were announced or completed.
These advancements are largely thanks to breakthroughs in technology—in particular, growing sophistication in the use of data analytics and artificial intelligence. Such advances have improved diagnostics, boosted research and development, and enabled patient identification and the tracking of disease progression. As a result, the rare disease industry is now on the brink of maturity and prepared for a period of sustained growth.
However, several important hurdles remain. Notably, the inherently small sample size of patients who suffer from rare diseases is a shift from the broader patient segments for which treatments were historically created. Developing treatments for this population requires a greater degree of personalization. Companies that can address these scaling challenges and land on the cutting edge of new medicines and technologies could be part of an attractive market. In fact, the market for rare disease therapies is expected to grow 11 percent per year,3 with about $131 billion in revenue expected in 2026.4 For patients who have not had access to or even the option of receiving a solution for their condition, new therapies offer a great amount of hope and relief.
A unique, breakthrough market
Novel cell and gene therapies add a new class of transformative therapies to the clinical aperture and often come with a curative promise for patients. Despite the complexity of this industry—and in some cases, because of it—the market can be an attractive investment for pharmaceutical companies.
First, many rare diseases are characterized by a high, unmet need with limited or no approved therapies available. Of the few rare diseases that do have therapies available, two-thirds have only one or two products.5 This gap in the market may offer companies a chance to break into the space, but the thousands of diseases without existing treatments offer an even greater opportunity to address patient needs. Second, the etiology of many rare diseases can be addressed by novel cell and gene therapy technologies and the potentially curative innovation they can support. Today, many of the FDA-approved cell and gene therapies are approved for rare diseases. Third, rare disease therapies perform better in progressing through clinical developments. Between 2006 and 2015, the chance of a rare disease drug moving from Phase I to approval was about 2.6 times higher than the overall approval rate for drug compounds (about 10 percent).6 Last, rare disease drugs benefit from dedicated incentives from regulators, governments, and reimbursement authorities across markets, such as orphan status, orphan-drug exclusivity, and rare disease frameworks. These incentives help sponsor the development and commercialization of drugs for smaller patient populations, which might not be economically attractive otherwise.
The next wave of patient-centric innovation
New technological advances, catalyzed by the COVID-19 pandemic, have required companies to rethink their approach to launching rare-disease treatments, particularly in how they leverage digital and analytics capabilities to create patient-centric solutions. Companies have learned how to use these new tools to make advances in research and development, patient segmentation, healthcare provider (HCP) engagement, and disease evolution tracking. As outlined in a previous article,7 developing a patient-centric approach is critical to successfully launch a new rare disease therapy. Advances in digital technologies have rapidly evolved over recent years and broadened the aperture of how pharmaceutical companies can build patient-centric approaches.
The sections below showcase how technology has transformed how rare disease companies engage their ecosystem and how leaders have leveraged new tools to innovate further.
1. Harnessing the power of analytics to engage when and where it matters most for HCPs and patients
Compared with other disease areas, the rare disease space is often characterized by close connections within the community of patients, caregivers, and patient associations. Each member of the rare disease community plays a central role because of the often low awareness of these conditions and the high degree of disease complexity and comorbidities. Companies can play an integral role in the community and improve patient outcomes by better understanding pain points along the entire patient journey and continuously innovating to uncover and address unmet needs. To do this successfully, companies need to work closely with HCPs to build a better understanding of the disease and the therapies available.
Companies are making great strides using digital and analytics to improve their engagement models with both HCPs and rare disease patients. Companies are now able to efficiently navigate extensive data sets to precisely engage relevant HCPs within a narrow disease area focus and accurately tailor content, channels, and timing. Engaging HCPs when it matters most and ensuring end-to-end personalized experiences that are tailored to the niche needs of both prescribers and payers facilitates greater and more-effective HCP engagement. With the right information at the right time, HCPs can greatly improve the standard of care for their patients.
For example, one rare-disease-focused pharmaceutical company used its HCP segmentation and call plan design to carry out a highly successful launch, with above-average uptake. The company built a data-driven predictive physician engagement model, drawing on insights and data from several years of physician engagement and subspecialty-specific clinical practice patterns. Using machine learning, the company developed a dynamic call plan that flexibly defined when and how often to engage each physician for optimal field resource deployment. At the same time, this approach reprioritized the engagement for more than 30 percent of HCPs. As a result, HCPs were being engaged when it was most relevant for them (around the timing of seeing a predicted patient) and in a manner that was genuinely relevant to their needs.
2. Leveraging data and AI for patient group identification and advancing disease diagnosis
In addition to being well connected to patient groups, companies also need to identify a fully representative set of the whole disease population. By leveraging advanced analytics, machine learning, and other tools, companies can develop a greater understanding of unmet medical needs. Education about the disease and the treatment journey can then be focused on specific regions or healthcare systems with the highest needs. And engagement models can include specialized peer-to-peer education sessions or well-structured testing programs, such as family testing, to identify potential disease markers.
It can take several years for patients to be diagnosed with a rare disease, and in that time, symptoms often worsen significantly. Recent advances in analytics, coupled with greater accessibility of large data sets, give pharmaceutical companies an opportunity to identify and spotlight patient groups more quickly.
For example, one global pharmaceutical company with a sizable rare disease operation deployed digital and analytics to improve its patient-finding approach for one of its rare-disease treatments. Using multiple core data sets of potential patients, the company built a predictive model to estimate the likelihood of any given individual having the targeted rare disease. The company then used this model to identify a large population of undiagnosed patients and the physicians who were disproportionately likely to oversee patients with the disease. This more precise engagement of physicians enabled an increase of more than 40 percent in the number of patients who could benefit from earlier and better access to diagnosis and care in the five years following treatment launch.
3. Innovating and expanding patient access
Companies that take advantage of early-access programs can bolster the existence and quality of their distribution channels, create better opportunities to close funding gaps, and build partnerships with third-party institutions.
Real-world evidence (RWE) has been used extensively across the value chain to understand how rare diseases can present, manifest, and be treated. To date, most value created throughout the disease ecosystem—better treatments for patients, better economics for pharmaceutical companies, and more transparency for payers and public stakeholders—has been after approval, and the full potential of RWE in the research and development phase has not yet been realized. A wealth of new data and analytics approaches using RWE can now be applied during R&D phases, and regulators are increasingly willing to adopt these approaches. For example, companies can use this data to monitor medicines, assess emerging health threats, and inform regulatory decision making. Many companies have invested in analytics pilots in R&D, but most have not yet built at-scale capabilities.
For example, a global pharmaceutical company in late-stage development of a new therapy recently targeted a pathway implicated in pathogenesis of a rare disease with no approved treatments. Due to small patient numbers, conventional techniques failed to establish causal relationships between the disease and life-threatening outcomes. To support the launch of this new therapy, the company aimed to better characterize the disease burden and clinical outcomes by bringing new and more-convincing evidence to regulators, payers, and physicians. The company applied data engineering and clinical definitions to a large data set of electronic medical records (EMR) to identify patients with the condition. Based on the work with the data set, the company used novel machine learning to assess causal relationships between the rare disease and life-threatening outcomes and mortality. It was then able to expand the patient cohort addressed by clinical studies and received regulatory approval for the product launch.
4. Expanding patient and caregiver support through digital technologies
Rare disease patients and their caregivers typically require education and social support after diagnosis. Subject to local regulatory conditions, support can be provided by specialist nursing services and bolstered by help lines. Pharmaceutical companies can also provide or fund support services—either directly or through a third-party provider—and can learn how patients experience their treatments in real time.
Digital health platforms can be an effective avenue to support patients and caregivers throughout the patient journey. Starting with diagnostic and disease education, innovative solutions such as AI-enabled symptom checkers are emerging. An increasing number of solutions are also appearing in digital therapeutics and treatment support, including remote monitoring and app-powered support for treatment adherence. One treatment for a chronic rare disease, for example, leverages a mobile app for symptom tracking and personalized dosing recommendations, allowing patients to share their data with their healthcare provider for an optimized treatment algorithm.
Additionally, players such as pharmacies and patient advocacy groups are strengthening their online presence, further improving patient reach and convenience. For instance, one pharmaceutical company developed a mobile app that allows hemophilia patients to monitor and track their disease in connection with their healthcare providers. The provider defines personalized patient settings to curate a custom treatment regimen, including dosing, infusion schedules, and follow-up visits. Patients can use the app to track their symptoms and help plan lifestyle activities based on current and estimated disease markers, meaningfully improving therapy adherence. In turn, providers can further refine the patient’s care plan. Through an individualized treatment plan and constant support, patients can manage their disease and reach treatment goals.
Overcoming rare disease obstacles
As companies focus on the market for rare disease therapies, they must overcome several challenges. First and foremost, addressing the scale of unmet needs is a daunting prospect, as is finding and diagnosing patients. Given that these diseases are characterized by comparatively low levels of awareness and knowledge, many patients remain undiagnosed for years. When they are diagnosed, the small sample size of these populations makes it difficult for life sciences companies to test and deliver their drugs across a wide range of patients and for health systems to learn how to properly treat these populations.
In the United Kingdom, for example, one pharmaceutical company partnered with patient advocacy groups and a clinical research organization to understand the needs of patients with Huntington’s disease and delivered the results to care centers within the National Health Service (NHS) to help providers understand what “good care” looks like for someone with this condition. Properly serving patients with other atypical diagnoses would require that same level of attention and research.
Another challenge is that treatment regimens for rare diseases typically impose high burdens on patients, such as requiring them to make appointments for frequent infusions and travel to faraway treatment sites. On top of everything else, the diseases themselves often present with significant comorbidities. But life sciences companies still have a significant opportunity to have a dramatic positive impact on patients’ lives by creating patient-centric experiences and life-changing therapies.
Creating lasting change
The next wave of innovation and growth is expected to change care and access for many patients with high, unmet needs. To bring innovative therapies to patients with rare diseases, companies need to evolve their capabilities into a patient-centric model, closely working with stakeholders across the treatment continuum while embracing the power of digital and analytics to identify eligible patients and tailor offerings and services to their needs.
Leading-edge innovators in the rare disease industry are increasingly embarking on digital transformations to identify product-specific opportunities and build a differentiated experience for patients and providers. A successful digital transformation requires players to develop powerful use cases and define a clear road map to implement new technologies, capabilities, and strategies. One potential use case could be using advanced analytics to identify the greatest unmet needs and the patients who are experiencing them. Another could be the launch of a digital app to help patients, providers, and caregivers manage a disease more effectively.
Digital and analytics transformations in rare diseases can help companies identify undiagnosed patients, create best-in-class patient experiences, and educate healthcare providers where appropriate. These transformations are a critical next step in developing cutting-edge strategies for rare disease patients and specialists. Innovative companies are poised to deliver holistic impact to patients when they combine a foundation of robust core technologies, a bespoke operating model, and international expansion capabilities, along with the right skill set and talent capabilities.
