In the field of medicine, orphan drugs have stood out as silent heroes, bringing hope to those facing rare and neglected diseases.
The term “orphan drugs” was first coined in the 1980s in the United States. The designation is given to drugs intended for the treatment of rare diseases, defined as those affecting 1 in 2,000 people. This category, initially neglected by the pharmaceutical industry due to its lack of profitability, found a light in the tunnel with the creation of legislation such as the Orphan Drug Act of 1983.
Orphan Drug Law, a paradigm shift
This legislation, by granting tax benefits, market exclusivity and financial assistance, not only encouraged the pharmaceutical industry to explore therapies for low prevalence diseases, but also catalyzed the formation of a global legal framework for orphan drugs. Since its implementation, it has proven to be a successful model, fostering innovation and allowing revolutionary drugs to reach those who would otherwise have no treatment options.
The Orphan Drug Act not only created a pathway to cures for rare diseases, it also transformed the landscape of medicine by bringing hope to communities that previously felt marginalized.
Successful orphan drugs
- Imatinib (Gleevec): Developed to treat chronic myeloid leukemia, Imatinib has been a true pioneer in the world of orphan drugs. Since its approval in 2001, it has significantly improved survival rates and quality of life for patients.
- Kalydeco (Ivacaftor): This revolutionary drug targets cystic fibrosis, a rare genetic disease. Approved in 2012, Kalydeco has proven to be a crucial breakthrough by addressing the underlying causes of the disease, not just the symptoms.
- Soliris (Eculizumab): Designed to treat rare immune system disorders, Soliris has proven to be a vital option for patients with syndromes such as atypical hemolytic uremic syndrome.
Impact of orphan drug discontinuation
Despite the triumphs, the neglect of orphan drug research and development remains a critical problem. Communities affected by rare diseases often face a lack of therapeutic options, underscoring the continued need for incentives and support for research in this field.
Orphan drugs are a success story in modern medicine, illustrating how dedication to addressing rare diseases can result in significant advances. However, it also highlights the importance of continuing to support research in this area to provide solutions for those who still lack options. Ultimately, these drugs are not just treatments; they are a symbol of hope for those battling rare diseases around the world.
World Orphan Drugs Congress
The World Orphan Drugs Congress is an annual event that brings together industry professionals, researchers, regulators and patient representatives to discuss and share knowledge on drug development and access to medicines for rare diseases.
Its importance lies in providing a unique platform where knowledge is exchanged, regulatory challenges are addressed, collaboration is fostered and solutions are explored to overcome barriers to accessing treatments for rare diseases. By bringing together diverse stakeholders, the World Orphan Drugs Congress plays a crucial role in driving research and development in this specialized field, offering hope and breakthroughs to communities facing rare and often overlooked diseases.
A promising future
The horizon for orphan drugs is looming with unprecedented optimism as we move into the future. The growing understanding of the genetic basis of rare diseases, combined with technological advances such as gene therapy and gene editing, opens up new possibilities.
Focused research into ultra-rare diseases and the personalization of treatments through more precise approaches are key aspects shaping the way forward. In addition, collaboration between the pharmaceutical industry, regulatory bodies and affected communities is reaching unprecedented levels, suggesting a continued commitment to addressing the needs of those facing these diseases.
With the drive for innovation and a renewed focus on equity in access to treatment, the future of orphan drugs represents not only a scientific breakthrough, but also a tangible promise to significantly improve the quality of life for those who have been historically medically underserved.
Since 2021, the OLIGOFASTX project stands out in Spain. In it a total of 7 Spanish biocompanies are developing and generating productive tissue for therapeutic oligonucleotides focused on providing solutions to 7 different rare diseases:
- Guillain-Barré syndrome
- Retinitis Pigmentosa
- Leber Congenital Amaurosis
- Cancer cachexia
- Alström Syndrome
- Fuchs’ corneal endothelial dystrophy
- Anaplastic thyroid cancer