- Aarohi Achwal, Sr. Associate II, Content Management, Sales Enablement Team, dentsu

- Rupali Bajaj, Research Analyst, Sales Enablement Team, dentsu

- Nilesh Patil, Senior Research Analyst II, Sales Enablement Team, dentsu

- Kent Groves, PhD, Chief Strategy Officer, dentsu health

Being diagnosed with a disease (acute or chronic) can throw off a person’s best-laid plans. Although early prognosis and intervention can enable an HCP to chart out the best treatment journey, in the case of rare or orphan diseases, it’s a different story altogether. Therapeutic recommendations, treatment, and co-morbidities vary with patient profile, concomitant disease profiles, diet, and environment, which make individual diagnoses particularly difficult.

Collectively, there are over 7,000 rare diseases  that affect more than 30 million Americans. Unlike so many of the more common conditions, it can take anywhere from one to five (and in some instances, 10 to 15) years for a rare disease to be properly diagnosed. Diagnosis may then create its own challenge when treatment options are known only to a handful of specialists.

The enactment of the Orphan Drug Act (ODA) in 1983 came as a glimmer of hope for individuals suffering from rare disease. The ODA entitles any drug with an Orphan Drug Designation to certain incentives such as tax credits for qualified clinical trials, exemption from user fees, and seven years of market exclusivity after approval. Since its enactment, more than 650 orphan drugs have been approved, and between 2001 and 2010, ~1,527 designations were granted.  

The costs associated with rare disease treatment, however, cannot be ignored, as it may make medical treatment seem out of reach for patients who are particularly bound by geographical challenges and/or financial issues. In 2019, the total cost for rare diseases (direct medical costs, non-medical costs, and indirect costs) was ~ $966 billion in the US, alone. While rare diseases pose a significant economic burden in the US, every country is doing their best to understand rare diseases and help patients get the best treatment available.

In the US, the FDA works with patients, patient advocates, product developers, and researchers for the development of drugs, biologics, and devices for rare diseases. Its Orphan Products Grants Program awards grants to clinical investigators to support the development of safe medical products. The UK government published the UK Rare Diseases Framework in 2021 with the aim of improving the lives of people living with rare diseases across the country. It’s supported by funding for ground-breaking research, including investments of nearly £790 million into biomedical research centers and £12 million into rare disease research platforms.

Japan, with the aim of connecting patients of rare diseases and their families with society at large, has been participating in Rare Disease Day (RDD) events since 2010. Australia, on the other hand, has a national strategic action plan for rare disease awareness and treatment. Their Medicare Benefits Schedule helps pay for patient care, and their Life-Saving Drugs Program funds 16 different life-saving high-cost medicines, that aren’t listed on the Pharmaceutical Benefits Scheme (PBS), for 10 rare conditions.

Historically, investments into orphan drugs has not been deemed financially sustainable, but things have changed. Commercial interest in rare-disease treatment has increased owing to technical advancements and laws that incentivize drug development. Guidelines for orphan pharmaceuticals have already been created by nations like the US, Japan, and Australia, and in countries throughout the EU, where many pharmaceutical manufacturers are investing and developing new drugs. By 2026, the global revenue generated from the sale of prescription orphan drugs is expected to reach $273 billion.

Concurrently, HCP education has improved, society has become more aware of rare diseases, and treatment options have expanded. Significant innovations continue to be made in the field of rare diseases and patients are now more willing than ever to participate in clinical trials—a major step in developing targeted drugs.

One example of progress in innovation is in the area of gene therapies, such as whole-genome sequencing, which increases the odds of finding a diagnosis for a rare disease. As genetic mutations are a major reason behind such diseases, research in personalized medicine has taken precedence. A great instance of this was in September 2022, when the FDA approved Skysona, a personalized gene therapy for cerebral adrenoleukodystrophy (CALD), a rare and often fatal disease that affects young boys.

We’ve come far, but we’ve also just begun.

Despite many obstacles in the way of rare disease diagnosis and access to treatment, there have been remarkable developments in the healthcare landscape that have helped bridge the gap. Additionally, with revised legal frameworks, better informed healthcare professionals, and scientific institutions advocating for change, we hope that patients with rare diseases will have a more promising future.