What are the challenges associated with discovering drugs for rare diseases?
Drug discovery for monogenic rare diseases has been greatly aided by development of genetically modified model organisms; however, drug discovery for rare diseases that are not of monogenic origin tends to be challenged by a lack of appropriate preclinical models.
A lack of natural history studies to understand appropriate clinical endpoints, guide development, and secure approval also remains a challenge associated with discovering treatments for rare diseases. Developing certain endpoints can help establish the clinical value proposition of a therapy, such as reduction in healthcare-related costs/utilization, improvement in patient/family quality of life (QOL), and change in patient- or physician- reported outcomes. Challenges in outcome measurements are due to the paucity of data intrinsic to rare diseases.
Describe the role marketing plays in identifying drugs in this niche market.
Marketing plays a critical role in early development, particularly to understand potential commercial barriers a rare disease drug may face when seeking reimbursement in today’s increasingly outcomes-focused healthcare environment. Early detection of these barriers can produce a commercially-relevant clinical trial program. The creation of a robust target product profile based on a long-term view of the market is also essential during the early phase and can help to create significant value as the therapy progresses.
What is a “disease-first” education approach? How does this type of strategy better engage physicians and patients?
Patients with rare diseases – and the physicians who treat them – lack consistent information to guide treatment decisions. Typically, key healthcare stakeholders have a sparse and inconsistent knowledge base about a given rare disease. Even key opinion leaders (KOLs) with significant experience treating a rare disease may find themselves with limited knowledge. For example, a leading KOL may deal exclusively with pediatric patients but lack awareness of the long-term impact of the illness in adult patients.
“Disease-first” education is a discovery strategy that reaches broader audiences to identify patients with rare diseases. This approach builds awareness of a rare disease for physicians, patients, and their support networks by providing resources describing common symptoms, all in an effort to reduce diagnosis time and connect patients across the globe. This strategy leverages analytics and assesses insights in real time based on consumption patterns and response rates to continually refine the digital strategy and reach niche patient populations that suffer from rare diseases. You should never begin an interaction with a patient or physician with disease education and background before initiating a product discussion to ensure they have adequate context.
What are other best practices for working in the rare disease market?
You need to immerse yourself in the patient and physician experience to properly guide drug development and commercialization. Each disease has myriad symptoms that can present differently in patients.
For example, with Prader Willi Syndrome, a disease of extreme and constant hunger, patients will routinely place themselves in extremely dangerous situations to access food. Even being driven to a trial site must be carefully planned, as patients have been known to throw themselves from a moving vehicle to find and procure food from passing establishments. In this instance, properly safeguarding patients during transport to trial sites is an important consideration in the trial design. As a best practice, be smart and empathetic to the needs of patients and physicians when designing and recruiting for clinical trials.
How has the approach to patient discovery and education changed in the past 10 years?
There are best practices that rare disease marketers and drug developers have pioneered over the past decade, one of which is investing in early-market development to increase the likelihood of launch success. Understanding the unique needs of patient and physician communities is one aspect of market development.
About the author
Samuel Falsetti, PhD, Partner, Director of Clinical Strategy has more than a decade of drug development and commercialization experience in the pharmaceutical, academic, and biotech worlds. Prior to joining Cambridge BioMarketing (CB) he worked at the Publicis Groupe, where he led scientific strategy on multiple antiviral products as well as groundbreaking investigational oncology therapies. While in academic drug discovery, Sam was part of a research team that developed and successfully licensed three oncology agents, including a first-in-class targeted oncology therapy currently in phase I clinical trials. Sam has helped develop the scientific and clinical strategies and narratives for at least a dozen rare diseases and orphan products. His expertise is complemented by the clinical department of PhDs and MDs that he and CB have cultivated. In addition to his work at CB, Sam is a member of a data monitoring committee for the NCI Community Clinical Oncology Program and has served as president of a chapter of the American Medical Writers Association.
Filed Under: Drug Discovery
