Rare Disease Care Challenges Digital Health Can Address

Rare diseases are “those affecting a very low number of individuals.”¹ According to the National Organization for Rare Disorders, a rare disease is a condition affecting fewer than 200,000 Americans.² In the US, 30 million people have one of 10,000+ rare diseases, and worldwide it is estimated that 400 million people suffer from a rare disease.³

Individuals living with a rare disease face numerous challenges, including limited awareness of their condition, prolonged delays in diagnosis, insufficient access to care, a dearth of therapies, and emotional distress. Given these significant unmet needs, pharmaceutical firms are increasingly prioritizing the development of new drugs for rare diseases. Additionally, the US government is incentivizing rare disease drug development through financial and regulatory support. However, patients with rare disease face significant challenges and often lack the support they need.

This is where digital health technology can make a meaningful difference. Innovations like telehealth, wearables, sensors, digital therapeutics, AI-driven diagnostics, data analytics, and cutting-edge software solutions are transforming healthcare. For pharma, these tools not only enhance patient care but also can improve efficiency, streamline clinical trials, and accelerate drug development.

Digital health has the potential to revolutionize nearly every aspect of rare diseases, from drug development and clinical trials to patient care and patient, family, and provider support. By leveraging these technologies, pharma can improve rare disease drug development and patient care.

At PharmStars, the digital health accelerator for pharma-focused startups, we work closely with our pharma members to identify where innovations are needed across various therapeutic areas. In our discussions with pharma, their top rare disease priorities became clear:

● Identifying and diagnosing individuals with rare disease
● Designing and executing rare disease clinical trials
● Enhancing rare disease care
● Improving women’s health equity in rare disease

In this article, we review each of these areas of focus in more detail.

1. Challenges Related to Rare Disease Diagnosis and Patient Identification

Rare diseases present unique diagnostic challenges for both the patient and the provider due to their complexity and obscurity. Furthermore, symptoms of rare diseases often overlap with common conditions, leading to misdiagnosis and delayed treatment.

Identifying individuals with rare diseases for participation in clinical trials and treatment is also incredibly challenging. Small populations and geographical dispersion complicate the task.

72% of rare diseases are genetic,⁴ but genetic data are hard to obtain because of the widespread geographic distribution of small numbers of patients. Furthermore, limited genetic data makes discerning rare disease patterns and symptoms difficult, which in turn delays patient diagnoses.

Genetic heterogeneity — where different genetic mutations can lead to the same condition — adds to the complexity of many rare diseases and also makes developing accurate, efficient diagnostic tests difficult.

On average, it takes more than 6 years³ to achieve an accurate rare disease diagnosis. Patients with rare disease may face an average of $517,000 in unnecessary costs per patient.³ 40%+ of patients endure multiple misdiagnoses,⁵ and 75% of misdiagnosed patients receive ineffective treatments.⁵ Delays in diagnosis and treatment of rare disease can lead to significant emotional and financial strain for patients and their families — often creating a cascade of challenges.

2. Challenges in Rare Disease Clinical Trials

Pharma is increasingly focusing on addressing the unmet needs of patients with rare diseases through the development of novel therapies. However, rare disease clinical trials can be extremely complicated. The challenges in developing and testing new therapies for rare disease include:

● Site Identification and Patient Recruitment: Finding suitable trial sites and enrolling enough patients with rare diseases, given the limited patient population.
● Data Collection: Developing reliable, efficient data collection methods when multiple trial sites in different locations are needed.
● Patient Support: Providing education, counseling, and logistical assistance to patients and their families during clinical trials.
● Ethical Considerations: Balancing patient safety and scientific rigor in small, vulnerable populations.

3. Challenges of Rare Disease Patient Care

Patients suffering from rare diseases and their families often encounter significant hurdles in accessing timely, effective care. Care challenges include:

● Lack of Awareness: Given how infrequently physicians generally encounter rare diseases, healthcare providers often have limited knowledge about them.
● Care Coordination: Rare diseases often require care from specialists, but coordinating care among providers can be difficult, leading to delays in treatment.
● Chronic Nature: Since many rare diseases are chronic, long-term patient engagement and follow-up are crucial.

4. Challenges in Women’s Health Equity in Rare Disease

In rare disease, access to healthcare is essential but far from universal. Women with rare diseases often experience more healthcare disparities.

There are many challenges related to women’s health equity in rare disease. Women are underrepresented in clinical trials. Despite their inclusion being required by law since 1993, they are often not adequately represented in rare disease trials. Lack of inclusion in clinical trials has limited progress in developing effective treatments for women. Women also can experience the effects of rare diseases differently than men, and importantly, these conditions can impact pregnancy and fertility. Compounding these challenges, healthcare providers often lack knowledge about the differences between men and women with rare disease.

Additionally, women are often caregiving for family members and can face a “double burden” of managing their own health while caring for others.

Conclusion: Digital Innovations Can Address Pharma’s Pressing Rare Disease Needs

Pharma and the US government are prioritizing the development of therapies for rare disease. To overcome the unique challenges of rare disease, pharma companies are turning to digital innovations. Digital health startups are playing a crucial role, offering innovative solutions to improve rare disease identification, accelerate diagnosis, optimize clinical trial design and execution, enhance patient care, and advance women’s health equity.

However, there can sometimes exist a disconnect between pharma and startups in working together. That’s where PharmStars comes in — helping to bridge the “pharma startup gap,” by connecting innovative digital health startups and pharma firms. Leveraging the digital innovations of startups, the pharmaceutical industry can make more rapid progress in rare disease drug development, clinical trials, patient care, and stakeholder support to ultimately improve the outcomes and experiences of patients with rare disease.
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Sources

1. Danese, E. & Lippi, G. Rare diseases: the paradox of an emerging challenge. Ann. Transl. Med. 6, 329 (2018).
2. List of Rare Diseases. National Organization for Rare Disorders https://rarediseases.org/rare-diseases/.
3. RARE Disease Facts. Global Genes https://globalgenes.org/rare-disease-facts/ (2018).
4. life with a rare disease. Rare Diseases International https://www.rarediseasesinternational.org/living-with-a-rare-disease/ (2021).
5. Vandeborne, L., van Overbeeke, E., Dooms, M., De Beleyr, B. & Huys, I. Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J. Rare Dis. 14, 99 (2019).

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