Any disease with an occurrence of less than 0.05% is categorized as a rare disease. While the percentage appears to be trivial, the number of people affected is significant. It is estimated that one out of 15 people could be affected by a rare (“orphan”) disease – equivalent to 400 million people worldwide. There are around 8,000 rare diseases, most of which have a genetic basis and are serious, chronic illnesses that could be life-threatening.1,2
With the adoption of regulations that promote the development of orphan medicinal products, the medical industry has seen an increase in focus from leading global pharmaceutical players, resulting in the successful development of new, cutting-edge technologies. As of 2022, research and development has resulted in an array of approved technologies across diagnostics and therapeutics that offer respite for individuals with rare diseases.
However, the rare disease problem can truly be tackled when the solution reaches the needy, and there are several challenges to be addressed apart from accessibility to medicinal products. These include patient and caregiver education, thorough healthcare professional (HCP) involvement in every phase of the disease, establishing rare disease specialists – both physicians and diagnostic technicians – and having subject matter experts (SMEs) or key opinion leaders (KOLs) regularly address the community with their insights and best practices.
By working collaboratively with some of the leading pharma companies, we identified challenges and specific unmet needs that could be addressed with our unique blend of technology-driven medical communication capabilities. Our applications have enabled the pharma leaders to increase awareness of Polycythemia vera (PV), Duchenne muscular dystrophy (DMD), Spinal Muscular Atrophy (SMA), Familial chylomicronemia syndrome (FCS), hereditary ATTR amyloidosis (hATTR), epithelioid sarcoma and many other rare diseases. In the process, we learned that each organization had a unique challenge that needed to be brainstormed and addressed uniquely.
We have developed an end-to-end learning management system for one of our clients that hosts learning courses, tracks user progress, and provides separate admin and user dashboards. These dashboards present the learning journey, offer analytics, host resources, and multimedia to support learning, and keep the users informed on relevant events to participate in for greater exposure.
Our instructional designers have built courses for novices as well as for HCPs, who can learn the topic based on their medical background. These are supported by an assessment tool that admins use to frame assessments by adding questions in the desired format. The questions can be a mix of multiple-choice questions, select multiple answers, select a single answer, true/false, match the following, and fill in the blanks.
MedTrix Healthcare has also programmed a unique Patient Case Player tool that hosts various patient cases, offering an engaging and interactive case journey with relevant images and diagnostic outcomes to simulate the patient journey. HCPs are prompted to make decisions at critical junctures through the patient case and learn with the help of supporting documents.
We have also leveraged technology to allow for improvised learning from the latest clinical research papers. Our signature product, the iRead, makes efficient use of HCPs’ valuable time by ensuring that they focus on the important sections of the paper and is supported with animated videos and voiceovers for an engaging experience.
MedTrix Healthcare was also the first to offer web-based Augmented Reality apps and chatbots that made learning about rare diseases and associated therapeutic products more exciting and easier to access for HCPs, patients, and caregivers.
We have supported our solutions with KOL videos for direct clinical learning as well as digital flashcards that help reinforce memory over a brief exercise. These can be quickly accessed over the web or a phone application. We are currently developing a slide deck with interactive 3D models of the brain and nasal cavity as well as other communication materials to elucidate the various administration modes of medications to the central nervous system (CNS) bypassing the blood-brain barrier (BBB).
From our experience in working with specialists like Novartis, PTC, and Epizyme, we have realized that there is a lot more that can be done to further the educational and HCP-engagement initiatives led by the pharmaceutical firms invested in rare diseases.
We remain committed to the industry efforts to help prioritize the treatment of rare diseases in international public health. Reach us at firstname.lastname@example.org to learn more.