Expediting innovation in the rare disease domain

Rare diseases affect a fraction of the population – 450 million+ people globally. However, its effects can be equally severe and life-threatening as other prevalent diseases. For Rare Disease Day, Tarun Kumar Bansal discusses why we need to expedite innovation in the rare disease domain.

Every time a patient with a rare condition walks into a hospital, doctors face the probable challenge of starting from scratch. Meanwhile, the patient goes through an array of experiences until their condition is diagnosed and the treatment begins.

Challenges in rare disease diagnosis and therapy

The field of medicine is riddled with challenges pertaining to diagnosis and finding treatment therapies for rare diseases. As per WHO, 5000-8000 rare diseases exist across the globe, it signifies the urgent need for expediting innovations in the rare disease domain.

With only <10% of the affected people having treatment for their rare condition, the question remains - what impedes the process of developing a treatment for such diseases? Here are the challenges that the medical community faces, most of which relate to the lack of research data, high cost of developing treatments or orphan drugs and greater chances of failure. 

• Small sample size in trials: Finding eligible patients for clinical trials of orphan medicines is a big challenge. The domain is marred with poorly-developed study endpoints and insufficient patient data. This leaves the medical community struggling to measure how the drug impacts the patient’s disease progression.
• Diagnosis challenge: Poor and incomplete understanding of the pathophysiology of the disease affects the accurate diagnosis of a rare condition. A patient with a rare disorder visits several specialists, and an accurate diagnosis can even take five years. Furthermore, there is a lack of data that can be used to improve the medical community’s ability to spot and diagnose such rare disorders.
• Collecting data on orphan drugs: Collecting data related to rare diseases and orphan drugs already existing in the market is a time and cost-intensive process. Organizations spend a fortune on building internal teams for collecting this relevant information. Therefore, both these factors impede the research and development teams’ process of fostering innovations in the rare disease domain.

The brighter side – innovations in rare disease  

• Novel therapy approval: Despite challenges, there has been considerable progress in developing treatment and diagnosis in the rare disease sector. In 2019, the Food and Drug Administration’s Center for Drug Evaluation and Research (CDER) approved several novel therapies for patients suffering from rare disorders such as cystic fibrosis, erythropoietic protoporphyria and neuromyelitis. Nearly 44% of the drug approvals by the CDER in 2019 were related to orphan drugs.

Moreover, after the passage of the Orphan Drug Act 1983, the FDA has approved nearly 500 orphan drugs, with 233 of them being approved between the year 2005 and 2015 alone. This is in stark contrast to ten orphan drugs approved in the 1970s, before the act was passed.

• Increased patent filing: Patent data is a valuable source to measure the extent of innovations in any sector for researchers to innovate. Therefore, aggressive patent filings have been witnessed in rare disease domain for conditions such as Angelman Syndrome, choroideremia, Addison’s disease and spinal muscular atrophy. The upsurge in the innovation index related to rare diseases also indicates a spike in innovations.
• Innovation in diagnosis: Rare disease diagnosis has also seen improvements in terms of innovation. Genetic testing has played a big role in enhancing the diagnosis process. For instance, the UK government’s 100K Genomes Project has achieved its goal of sequencing the genomes of 100,000 people in 2019. This data can help researchers and strategists learn more about such conditions for the betterment of the rare disease community.

For instance, 300+ patents have been filed for Angelman Syndrome and 200 patents for Choroideremia in the last five years, with 100 patents for Spinal muscular atrophy (SMA) filed in the last two years.

Here are a few facts and figures based on our patent research:

Some of the major companies working in the rare disease sector are: Bristol Myers, Pfizer, Novartis, Amgen, Abbvie and Takeda. Meanwhile, major academic institutions that are working in the rare disease sector include: University of South Florida, INSERM, John Hopkins University, University of South California, etc. Also, when we consider the major geographies working in the rare disease sector, we find that USA, Europe, Canada, China and Korea hold key positions; with USA and Europe contributing more than 50% of the patents filed in the rare disease sector.

Similarly, patent landscape analysis has been instrumental in identifying the major techniques for diagnosis such as: hybridisation, ubiquitination, cytometry and sequencing. The analysis also classifies major classes of compounds used to prepare drugs for the treatment of rare diseases, such as: Imidazoles, Azepines, Indoles, Pyrroles, Quinolines and Pyridines.

Currently, pharmaceutical firms are readily directing their R&D departments to research on orphan drugs to find out new possibilities and even get details of current solutions to develop fast. The move is highly motivated by the growth rate of the rare disease drugs market – it is growing faster than the market for traditional drugs.

In an effort to expedite the rare disease innovations, Sagacious IP is hoping to help innovators and strategists acquire new ideas and develop therapies/diagnoses quicker through a database that provides a patent set.

Since all innovations are patented first, innovators and strategists can gain access to relevant information related to developments in the rare diseases sector and get new ideas through this database. The information can then be filtered to help researchers develop further technologies based on existing ones, and more importantly - avoid patent litigations!

Time is utterly valuable in the medical domain, especially in the rare disease sector which requires more innovations to prevent loss of lives. Researchers and strategists spend a significant amount of time and money on researching and finding cures for rare diseases. Collecting refined and focused information can be a time-consuming and costly task so quick innovations in the rare disease domain can improve a patient’s quality of life.

Therefore, overcoming barriers such as a lack of readily available information in the rare disease sector can significantly expedite the pace of innovation by fostering new treatment therapies, which would ultimately result in the betterment of the rare disease community.

About the author

Tarun Kumar Bansal is president of Sagacious IP. A biologist by education and an entrepreneur by passion, he has 15+ years of experience in multiple business arenas including intellectual property, research & technology evaluation, and IP commercialisation.