Rhenu Buller, an expert on disruptive technologies at business consultancy Frost & Sullivan’s Asia Pacific office, outlines the technological innovations currently driving the drug development pipelines of rare disease companies.


Recent advancements in the development of novel platforms for precise targeting of small molecules, gene therapy, stem cell therapy, gene modification, and gene rectification technologies offer new prospects for therapies and cures for rare and genetic diseases

The pharmaceutical industry is in the process of transforming its business model, with a growing focus on biologics and rare diseases. Companies are focusing on core areas internally and engaging more in partnerships and collaborations to expand the pipelines of such therapies. There are more than 7,000 identified rare diseases, but as each of these affects a relatively small population, only a limited number of companies have the resources and expertise to conduct drug discovery and development for orphan drugs. However, new technologies and platforms are providing avenues for acceleration in their development.


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North America is estimated to remain the largest regional market for rare and genetic disease therapies over the next five years, followed by Europe. In Asia-Pacific, markets such as Japan and Australia have access and reimbursement programmes, but in many other markets, reimbursement is limited and patients need to seek funding through their own means. There continues to be lobbying efforts from manufacturers, treaters, parents (as many rare diseases impact children) and patient groups in Asia Pacific for the development of stronger healthcare policies to support rare diseases as well as initiatives to enable the diagnosis of such conditions. Some notable challenges in the Asia Pacific region are limited government assistance and commitment; increasing awareness among consumers, patients and social groups; a lack of diagnosis and care facilities for patients affected by rare diseases; the low prevalence of non-profit organizations focused on rare diseases; the lack of funding on research on rare diseases; and regulatory gaps and the absence of relevant legislation.


Technologies Driving Discovery to Treat Rare and Genetic Diseases

Recent advancements in the development of novel platforms for precise targeting of small molecules, gene therapy, stem cell therapy, gene modification, and gene rectification technologies offer new prospects for therapies and cures for rare and genetic diseases. More than 80 percent of rare diseases are genetic in origin, so gene and cell therapies are being proposed to treat them. One of the most significant innovations is related to the discovery of the potential of RNA (Ribonucleic acid), which was underestimated for a long time for therapeutic drug development. Although stem cell therapies are still in an early stage of development, a number of cell therapy products have already been commercialised. Gene editing technologies can be utilized in the identification of novel targets for a whole host of therapeutic areas through genomic screens. In addition, these technologies can aid in the validation of already selected targets. Highly complex genomic studies can be conducted using these technologies to assess point mutations, overexpression and multiple other characteristics. They can also be considered as direct treatment options, especially if the disease that is being targeted can be reversed or altered by genetic manipulation at the DNA level.


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The global rare and genetic disease therapies market was worth about USD 102.6 billion in 2017 and is expected to reach USD 168.3 billion by 2022 at a Compound Annual Growth Rate (CAGR) of 8.6 percent from 2017 to 2023. Small molecule technologies are at this point the mainstay of the market, with close to 40 percent of the market share. The advent of new technologies coming from the technology synergy among RNA bioinformatics and structural tools, RNA-specific chemical and biological assays, material sciences, and traditional medicinal chemistry are responsible for the highest growth rates exhibited in RNA-based therapies, while the utilisation of gene editing techniques is currently expanding rapidly across human therapeutics. 


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Companies Aiming to Make a Difference in the Rare Diseases Space

Pharmaceutical companies focusing on orphan drugs are looking at new approaches to rare diseases focused on patient-oriented outcomes, robust study designs, plausible clinical translation and decision priorities, and effective stakeholder-engagement strategies to strengthen the case for market access. Using hybrid study designs and stakeholder engagement that encompasses both evidence generation and subsequent therapy implementation, combined with open innovation programs, cutting-edge technology integration within proprietary platforms and collaborative research, pharmaceutical companies are starting to launch spin-off companies to advance the rare disease cause in parallel with adjacent technology innovations.


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Next-generation small molecules, gene therapy, stem cell therapy, and gene editing for DNA repair are promising approaches for the treatment of rare and genetic diseases. As advancements in technology progress, it is imperative that healthcare structures and regulatory and funding mechanisms in Asia Pacific are aligned with improving access for such diseases in the region.


About the Author

Rhenu Bhuller, Partner, Frost & Sullivan

With more than fifteen years of research and consulting experience, Rhenu has worked with both global and regional companies in preparing for the future in terms of market strategy, industry convergence opportunities and business model innovation. One of her key areas of focus is technology, the impact this is having on various industries and business models as companies are impacted by these megatrends and developments globally and need to transform to stay relevant for the future. She works with Frost & Sullivan’s analysts on the impact of market trends and disruptive technologies such as gene therapy, robotics and automation, big data analytics, AI and blockchain on are impacting business models and the future of healthcare delivery. The above article has been adopted from D819-TV: Novel Therapies for Rare and Genetic Diseases. For more information visit www.frost.com