Rare Disease Day will take place on February 29th this year and is a global opportunity to raise awareness for the individuals and families facing challenges associated with rare diseases. Approximately 25 to 30 million Americans, or 1 in 10 individuals, are impacted by a rare disease. A disease is considered “rare” when it impacts less than 200,000 individuals. Together, the 10,000 known rare diseases existing in the US create severe quality of life burdens and an economic burden of over $1 trillion. The majority of these conditions have no FDA-approved treatments, leaving patients with limited options for disease management. The medications used to treat rare diseases are known as orphan drugs and are difficult to develop, often exposing patients to extremely high costs. Delayed diagnosis, a frequent occurrence for those struggling with a rare disease, leads to additional out-of-pocket expenses for patients.  

Treatments for rare diseases and conditions are often “orphaned” or discontinued due to limited financial incentive. The FDA incentivizes the development of treatments for rare diseases through the Orphan Drug Act. The programhttps://www.fda.gov/patients/rare-diseases-fda provides tax credits, 7-year market exclusivity, and waived Prescription Drug User Fees to drug developers. However, substantial obstacles exist with orphan drug development and access: 

Complexities in Clinical Trials: The limited patient pool for orphan drug trials makes it challenging to recruit a sufficiently diverse and representative sample. Moreover, the scarcity of participants can elongate the trial duration, hindering the timely development and approval of orphan drugs. The complexity of rare diseases, coupled with the rarity of expert clinicians and researchers in these fields, further complicates the design and execution of clinical trials. A significant portion of rare conditions impact children, creating additional barriers to clinical trial designs. 

Orphan Drug Costs for Patients: The exorbitant costs associated with orphan drugs have become a challenge for patients facing rare and often life-threatening conditions. Despite the invaluable benefits these medications can offer to individuals with rare diseases, the financial burden placed on patients is staggering. Orphan drugs often come with limited market competition, enabling pharmaceutical companies to set prices at unprecedented levels. Aside from treatment costs, absenteeism and forced retirement are also key factors in rare disease’s financial burden. The excessive cost of orphan drugs and treatment underscores the need for a more sustainable approach to ensure that those in need of these specialized medications can access them without compromising their financial stability or sacrificing other essential aspects of their well-being. 

Lack of Coverage for Orphan Drugs: Securing adequate payor coverage for orphan drugs and rare disease treatment is often a barrier to accessible care. The prohibitive costs associated with the development and production of these specialized medications place a strain on healthcare payors. Additionally, the scarcity of treatment options for rare diseases can leave patients with few alternatives, intensifying the need for coverage. The intricate nature of the diseases themselves complicates drug efficacy data and further influences payor decisions. Balancing the need for affordability and accessibility with the economic realities of developing orphan drugs presents a dilemma that requires collaborative efforts among pharmaceutical companies, healthcare providers, and payors.  

Patients with rare diseases must have access to these life-changing treatments without undue financial burdens. Though the conditions impacting these patients are considered rare, they greatly impact the national economy and families of those with rare diseases. Developing orphan drugs is vital to improving patient’s quality of life and managing these chronic, rare diseases. Continued research for rare disease cures and treatments is needed for the thousands of conditions with no available treatment options. Quality of life and access to orphan treatments should be considered during the development of these life-saving drugs.  

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At PFG MedComm, we continuously explore innovative approaches and can help you navigate the complexities of the healthcare payor landscape. Click here to download PFG MedComm’s Ultimate Guide to Market Access.  

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