The Role of Orphan Drugs in Treating Rare Diseases

Janifha Evangeline, Assistant Editor, India Pharma Outlook | Sunday, 05 November 2023

 Janifha Evangeline, Assistant Editor, India Pharma Outlook
Orphan drugs play a critical role in treating rare diseases, which are often referred to as "orphan diseases." These drugs are developed to address medical conditions that affect a relatively small number of individuals, typically fewer than 200,000 people in the United States or a similarly low prevalence in other countries. The appeal of developing orphan drugs is obvious. Businesses that develop treatments for uncommon illnesses encounter little to no competition from generic competitors and branded products. The classification of an orphan drug also provides reduced-cost late-stage development and expedited regulatory assessment. The development and availability of orphan drugs are essential for several reasons:

Addressing unmet medical needs:

Rare diseases often have no approved treatments, leaving patients with limited or no options to manage their conditions. Orphan drugs can provide hope and improve the quality of life for individuals with these diseases. The development of orphan drugs requires substantial research and innovation. This not only leads to the creation of new therapies for rare diseases but also advances scientific understanding and may have broader applications in medicine. “Only a small number of pharmaceutical companies are actually spending money on developing new medications for uncommon diseases. To be able to finance new endeavors in the future, pharma makers must amortise their operational costs, research investments, and reasonable earnings,” says Dr. Bruno Jolain, Chief Medical Director, Roche India. Incentivizing drug development: To encourage the development of orphan drugs, many governments, including the United States and the European Union, offer financial incentives and regulatory benefits to pharmaceutical companies. These incentives can include tax credits, research grants, extended market exclusivity, and streamlined regulatory pathways. Orphan drug development often involves collaboration between pharmaceutical companies, patient advocacy groups, and healthcare providers. This collaborative effort helps raise awareness of rare diseases, provides support to affected individuals and their families, and fosters a sense of community. Alexion Pharmaceutical’s Soliris was originally intended to treat the potentially fatal blood condition paroxysmal nocturnal hemoglobinuria. “The Indian Ministry of Commerce and Industry’s Pharmaceutical Export Promotion Council hosts seminars, awareness campaigns, and other events to raise awareness of quality compliance, orphan drugs, and ethical Good Manufacturing Practices (GMP) compliance and introduces opportunities for orphan drugs at regular intervals” says Ruchi Sogarwal, Head, Public Affairs and Patient Advocacy for Takeda in India.

Personalized medicine:

Orphan drugs are frequently designed to target specific genetic or molecular abnormalities that cause rare diseases. This approach aligns with the principles of personalized medicine, tailoring treatments to the individual patient's unique characteristics.
Developing orphan drugs can be financially rewarding for pharmaceutical companies, even though they target a small patient population. It can lead to a dedicated and lucrative market segment for these companies, contributing to their overall business sustainability. Bristol-Myers Squibb’s Yervoy has made a big impact since its approval. Although Yervoy and Roche's ($RHBBY) Zelboraf Phase I trial for melanoma patients was halted due to patient indicators of liver toxicity, the medication showed potential when used in conjunction with a Sanofi ($SNY) white cell booster. After a year of treatment, that combination maintained almost two-thirds of melanoma patients alive, compared to only half of those who got Yervoy alone.

Improved quality of life & increasing potential for drug development:

Advances in genetics, genomics, and personalized medicine are increasing the potential for orphan drug development. Tailoring treatments to specific genetic mutations or disease subtypes is becoming more feasible, offering hope for even more effective therapies for rare diseases. Orphan drugs can significantly improve the quality of life for individuals with rare diseases. They may alleviate symptoms, slow the progression of the disease, or even provide a cure in some cases. Without these treatments, many rare disease patients would have limited or no treatment options. Biogen Idec offers Avonex Pen, which is the first intramuscular autoinjector approved for MS and one it hoped would reduce injection anxiety and pain.

Patient-Centered Approach & Improved diagnostics:

Orphan drug development often follows a patient-centered approach, with approach, with close collaboration between patients, advocacy groups, and drug developers. This approach helps ensure that the specific needs and preferences of rare disease patients are taken into account during drug development. The development of orphan drugs often goes hand in hand with advancements in diagnostic tools, allowing for earlier and more accurate disease identification, which can improve patient outcomes. Treating rare diseases is a matter of ethical importance, as it addresses the suffering of individuals who might otherwise have no hope for relief or a cure. “As the market is, by definition, a small one, a company developing a treatment may find it hard to cover their costs, unless they charge a very high price for the drug, which in itself puts a huge burden on patients and insurers, and renders the treatment practically unavailable for many who need it,” says Dr Ron Jortner, Trustee of the Cambridge Rare Disease Network. Despite these benefits, orphan drug development can also face challenges, such as high development costs, limited patient populations, and pricing concerns. Striking a balance between incentivizing orphan drug development and ensuring accessibility to these medications remains an ongoing discussion in the healthcare industry and among policymakers. In summary, orphan drugs play a crucial role in addressing the unique challenges of treating rare diseases. They are essential for improving the lives of individuals affected by these conditions and represent a model of successful collaboration between the pharmaceutical industry, regulatory authorities, and patient advocacy groups. Despite the inherent challenges in developing and pricing orphan drugs, their importance in the field of rare disease therapeutics cannot be overstated.

© 2024 India Pharma Outlook. All Rights Reserved.