Treating Rare Diseases: The Challenge of Access

Although rare by definition, the collective impact of rare diseases is anything but insignificant. In the Asia-Pacific (APAC) region – home to over half of the world’s population – more than 258 million people are estimated to be living with a rare disease. This staggering figure becomes even more pronounced on a global scale. Yet, treatment options remain scarce, creating a pressing issue of healthcare equity. Addressing this challenge requires deeper understanding and urgent action.

Rare disease treatment is characterized by its numerous challenges, stemming from an overall lack of awareness across the healthcare landscape. This issue becomes a waterfall, trickling down and affecting crucial nodes of the healthcare value chain, such as regulations, existing healthcare infrastructure, and affordability, before it can even potentially reach patients. Hence, the cooperation of the public and private sectors with a firm basis in knowledge sharing and education is required to alleviate these multifaceted challenges brought from a lack of awareness.

The Root of Awareness

Rare diseases are defined by their generally low population impact, with many markets agreeing to a ratioed figure, such as one patient per every 2,000 in a population. The rarity of such diseases results in a lack of awareness among both the general public and the healthcare practitioner community. This awareness gap translates into a significant challenge in patients receiving an accurate diagnosis. Combined with the relatively few specialized medical personnel for such diseases, this can lead to misdiagnosis or delayed referrals, resulting in an average time to receive a final diagnosis of up to 5 years. By this time, some rare diseases can cause significant distress, such as Leber hereditary optic neuropathy (LHON), which can cause vision loss in a matter of months if left untreated.

Patients face a journey of medical uncertainty, fiscal difficulties, and personal challenges. These issues are often exacerbated by healthcare systems that struggle to accurately and promptly diagnose such rare conditions.

Point-to-Point Hurdles in Medication Access

Across markets, the rare disease medication issue also has to contend with more tangible and operational concerns stemming from the lack of awareness. From a regulatory standpoint, the lack of rare disease understanding can lead to regulations being under equipped to address medication access. This is doubly so for more challenging regulatory landscapes, such as across APAC’s complex and fragmented market environment, where general healthcare accessibility can already prove to be a hurdle due to a combination of socioeconomic and geopolitical factors. This can lead rare diseases and their medications to be an underserved area, while more widely common health concerns are prioritized.

A key driver of healthcare access is the underlying infrastructure powering the supply chain, ensuring the distribution of medication to patients. Similar to regulations, supply chain systems can vary vastly in complexity, particularly when across challenging geography and when specialised logistics, such as cold chain solutions, are needed to handle sensitive medication. These can culminate in much-needed investment into supply chain infrastructure. For example, in APAC markets, such as Thailand, DKSH has established a network of satellite distribution centers that can provide last-mile delivery of sensitive medications to underserved areas in a short period of time.

Regulatory complexities and supply chain infrastructure aside, the barrier to rare disease medication accessibility most often felt by patients is the affordability of treatments. The high cost of rare disease treatment options is critical, with some reaching over a million dollars for annual or one-time treatment. The issue of cost is more amplified in regions like APAC, where many markets have less robust public health insurance or social support systems, placing a financial strain on patients, even when access is just within reach.

This collection of barriers to accessing rare disease medications can be daunting from the outset. As a challenge of global concern, addressing it requires a unified approach that combines in-market and industry expertise, all in service of bringing medication to underserved patients.

The Power of Collaboration

The unique challenges of rare diseases are too great for any single entity to tackle alone. Bridging this gap through collaboration is paving the way forward, with public-private partnerships (PPPs) emerging as a core means for success. These partnerships bring together government agencies, pharmaceutical companies, academic institutions, and patient advocacy groups to share expertise, resources, and risk. For instance, in the APAC region, initiatives like the APEC Action Plan on Rare Diseases have provided a framework for member economies to accelerate efforts in this area, including the promotion of multisectoral collaborations. Regional alliances, such as the Asia Pacific Alliance for Rare Disease Organizations (APARDO), have done valuable work in collaborating with advocacy groups to raise awareness about these conditions. On an organizational level, there are also healthcare partners, such as DKSH, who work with firms, such as Kyowa Kirin, to bring rare disease medications to markets by utilizing in-market and regulatory expertise. Moreover, DKSH’s local teams have strong market knowledge, enabling them to offer clients and customers expert advice on local regulation.

This collaborative approach is crucial for streamlining the regulatory process for rare disease medications, also known as orphan drugs. Governments, including many in Asia, have introduced specific regulations and incentives to encourage the development of rare disease medication. These include Orphan Drug Designations (ODD) that provide much-needed support, such as tax credits for clinical research. Beyond these incentives, regulatory bodies are considering a greater reliance on evidence from expanded access programs. This allows for the use of data from a smaller patient pool, which is often the only available source of information for such rare conditions, thereby accelerating the review and approval process.

From a patient perspective, financial aid is of vital importance and an area where collaboration is key. The high cost of treatments for rare diseases necessitates innovative funding models beyond traditional public insurance. One effective model gaining traction in APAC is the establishment of dedicated funds, supported by a combination of public and private contributions. Singapore’s Rare Disease Fund (RDF) is a prime example, where community donations are matched by the government at a significant ratio. This model provides long-term financial support for patients, while encouraging a sense of shared responsibility across society. Similarly, patient access schemes and managed access programs are being implemented to ensure affordability and controlled access to therapies before full reimbursement is in place. These schemes can be tailored to individual patient needs and help bridge the gap between regulatory approval and widespread access.

Ultimately, the future of rare disease medication accessibility rests on a unified, multi-stakeholder ecosystem. By building on collaborative frameworks, optimizing regulatory pathways, and pioneering innovative funding mechanisms, the healthcare landscape can be transformed. Beyond raising awareness, there is an opportunity to create a robust, equitable, and sustainable system that ensures no patient is left behind, regardless of the rarity of their condition.