The intrinsic nature of rare diseases puts the patient front and center of research, awareness, and clinical development.

With Rare Disease Day upon us, we ask how can pharma companies and patients collaborate more effectively to bring new treatments to market?

There’s nothing “rare” about the occurrence of rare diseases. Around 350 million people worldwide, including one in 10 Americans, suffer from any one of 7,000 known conditions. What’s rare is the availability of effective treatments. Despite a recent “explosion” in rare/orphan drug approvals, only one in 20 of these conditions has a therapy on the market. And because rare diseases are typically debilitating and life-threatening, it’s a landscape that is rife with urgent, unmet clinical needs.


The unique challenges of rare diseases

Therapeutic development in rare diseases faces two key hurdles. One, patient populations are small (less than 200,000 in the US, by definition), so it’s a challenge to find patients, conduct clinical trials, and develop financially viable therapies. And two, the understanding of rare diseases among the scientific and clinical communities is often a work in progress.

"The natural history of a rare disease may not be well known, so if you are designing a therapeutic intervention but you don’t really have data that shows how the disease progresses, it may be difficult to convince regulators that you actually have accomplished that," says Claudia Dall’Osso, Senior Business Insights Analyst, DRG.

These unique characteristics thrust patients to the forefront of efforts to raise awareness, conduct research and ultimately steer the development of novel treatments. The galvanizers and orchestrators of these patient communities are nonprofit patient advocacy groups. Not only do they represent the interests and the voices of rare disease sufferers, they provide a crucial bridge between patients and the scientific and clinical communities. (The National Organization for Rare Disorders (NORD) lists 1,823 advocacy groups on its website).


Raising awareness – and funds

The huge potential for patient advocacy groups to exert influence and create positive change for patients is perhaps best illustrated using a bucket of ice. Anyone who ventured onto Facebook in the summer of 2014 will have seen the cultural phenomenon of the ALS Ice Bucket Challenge, and those who didn’t will have heard about it in the news. Think about what the ALS Association (ALSA) achieved in terms of disease awareness alone: 17 million active participants in support of a disease with just 20,000 sufferers in the US – with many millions more talking about it! Crucially, of the $115M raised in the US, ALSA was able to donate $77M to research, which has already spawned the discovery of an important gene variant, and helped accelerate the US approval of Radicava, the first new ALS drug in 22 years.

Funding research is important. The Cystic Fibrosis Foundation (CFF) plays a crucial role in getting treatments to market for CF suffers through its “venture philanthropy” model. Back in 2000, the group donated the first $40M of a $77M total investment to Aurora Biosciences (now Vertex Pharmaceuticals) to drive the discovery of compounds that might correct the core genetic defect in CF patients. This eventually resulted in the 2012 launch of Kalydeco, the first drug to address the underlying causes of CF. To date, the foundation has donated $425M to the pharma companies, including Pfizer, Genzyme, Editas, and Corbus, to accelerate the discovery of CF therapies.

Linking pharma with rare disease patients

Another key role of advocacy groups is to connect pharma with patients by identifying populations and helping clinical trial recruitment. One way they do this is by compiling patient registries. A fine example is CFF, which also produces an extensive annual report on the CF population, including the meds they take and the types of insurance they have. NORD is attempting to compile patient registries for a number of rare diseases, including many that lack the representation of a well-developed advocacy group.

The involvement of advocacy groups is crucial because they hold the trust of patients. And social media has really become the voice of rare disease patient communities, providing a valuable window into the experiences of sufferers, the burdens of care, and the ways patients document their treatment journeys. As of 2017, 66% of U.S. rare disease patients use social media for health information and resources (Cybercitizen Health® U.S. 2017, Manhattan Research).

"Social media is a great tool for understanding the patient population as a whole," says Steve Reeves, Director, Social Business Insights, DRG. "Advocacy groups are using platforms like Facebook to build communities and generate trust, creating that back-and-forth communication with the patient. It’s critical, therefore, for pharma to cultivate relationships with advocacy groups in order to gain these valuable patient perspectives."

Another challenge with rare diseases is the time it can take to reach a correct diagnosis. Physicians understandably lack experience with the majority of rare diseases, especially those for which the symptoms replicate those of more common ailments, and it is not uncommon for patients to undergo an initial misdiagnosis. In addition, many rare diseases require a sophisticated genetic test, which can further delay diagnosis. Advocacy groups play a critical role in disseminating disease and treatment information to both the patient and the clinician, and often it is the patient that will take this information to the physician.

The rules of engagement

When pharma and patient advocacy groups collaborate, it’s important to establish the rules of engagement up front to avoid conflicts of interest and to maintain an ethical relationship. The goal of the advocacy group is to support the patient population. Pharma companies also want to offer patient support but are obviously focused on getting a specific drug approved, so it is important that advocacy groups maintain independence and are clear a path to work with multiple developers competing in the same space. Industry organizations PhRMA and BIO have each produced a set of guiding principles on working with advocacy groups to aid their member companies.

From a pharma perspective, having a well-established patient advocacy group as a potential partner may be a key selling point in the decision to develop a treatment for a rare disease, especially one that is not well categorized in terms of the underlying pathology that’s driving it. This might be particularly important for a small, biotech developer without a great deal of disposable capital.

"An active patient advocacy group can help raise, or steer, money towards research focused on understanding the natural progression of the disease, freeing up pharma to focus on the bigger picture of developing a clinical program and advancing candidates through pre-clinical testing," says David Holman, Senior Director, DRG.

Accelerating drug approval

Advocacy groups can also help accelerate the drug approval process. Because there are so many rare diseases, the FDA lacks the resources to develop accurate guidelines for the appropriate assessment of treatments within different indications. Parent Project Muscular Dystrophy became the first advocacy group to address this issue in the Duchenne muscular dystrophy category. In the space of just 6 months, it assembled a broad coalition of more than 80 stakeholders, including physician and disease experts, to determine the appropriate risk-benefit ratio for this disease population, and develop and present robust guidelines to the FDA.

The above examples illustrate the influence that a well-developed and active patient advocacy group can have in the clinical development process, and the positive impact this can have on patients’ lives. Because there are so few rare disease patients, they play a crucial role in rare disease research and clinical development. And it’s the advocacy groups that link these patients with the pharma industry and really help drive the new therapies to market. Such collaborations will be critical to addressing the vast unmet needs of patients in the rare diseases space.

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