ABSTRACT
The Orphan Drug Act of 1983 paved the way for the development of drugs that treat rare diseases, defined in the United States as those affecting fewer than 200,000 patients. Orphan drugs can cost hundreds of thousands of dollars annually, but insurers have traditionally covered these therapies because the small populations involved did not typically lead to significant cost exposure. Payer sensitivity to the cost of orphan drugs is rising, however, with the accelerated rate of new launches of these agents amid intensified economic pressure. Payers are showing increasing levels of concern and scrutiny about coverage of orphan drugs. A new payer survey conducted between February 2008 and March 2009 provides insights on how payers are managing orphan drugs and the way it is likely to evolve in the future. Survey findings show that the patient share of orphan drug costs is rising and is expected to continue to rise, barring sweeping changes in public health policy. This shift in benefit design could affect patient access to orphan agents and, therefore, drug utilization. Manufacturers will have to invest in research to understand payer impact on the uptake of their orphan drugs in development. They will also benefit from being prepared to develop strategies to ensure patient access to and affordability of their orphan agents.
ABSTRACT
OBJECTIVE: Familial cold auto-inflammatory syndrome (FCAS), a subtype of cryopyrin-associated periodic syndromes (CAPS), is a rare, inherited disease that is virtually unknown to healthcare professionals. The aim of this patient survey was to characterize the symptomatology and evaluate the debilitating effects of FCAS on patients' daily lives. RESEARCH DESIGN AND METHODS: Patients included in a disease database consisting of 167 FCAS and Muckle-Wells syndrome (MWS) patients were provided an opportunity to voluntarily participate in a cross-sectional market-based survey. Upon assessment of eligibility, individual in-depth phone interviews were conducted by an independent research agency to characterize disease symptomatology, diagnosis, and disease impact on daily activities. RESULTS: Thirty patients with prior diagnosis of FCAS participated. The most common and recurring symptoms reported were rash, joint pain, chills, and fever. The majority of survey participants (90%) reported that they presented with symptoms as newborns or in early childhood - symptoms which became burdensome by school age, with patients reporting recurring symptoms and debilitating disease flares precipitated by environmental exposure to cooling temperatures. To cope with their underlying disease and to try to avoid symptomatic flares, patients reported limiting their work, school, family, and social activities. Seventy-eight percent of survey participants described an impact of the disease on their work, including absenteeism and impaired job advancement; frequently they quit their job as a consequence of their disease. Over 95% of survey participants reported that FCAS prevented participation in outdoor activities, while 83% indicated an impact on social activities, including relationships with friends and family. Limitations of this survey include the absence of a validated quality-of-life instrument, lack of correlation with patient medical records, and potential recall and responder bias. The number of participants appears small, but reflects 18% of the known FCAS population in the USA. CONCLUSIONS: FCAS causes lifelong debilitating effects that restrict patients' daily lives. Poor recognition of this rare disease among healthcare professionals leads to delayed diagnosis and inappropriate or ineffective treatment. Healthcare providers need to be made aware of this serious debilitating disease to enable accurate and timely diagnosis and more compassionate management of this lifelong condition.
