The Challenge and Burden of Rare Diseases
Rare diseases present complex challenges for both diagnosis and treatment. Prevalence and severity vary enormously across patients. Genetic sequencing has brought an extraordinary understanding of what causes diseases. However, in both symptoms and treatments, there are few commonalities among patients.
On average, it takes 4.8 years from symptoms onset for patients to get an accurate diagnosis. Despite the decrease in cost for genetic mapping (from $95k in 2001 to $1k in 2020) and computer-assisted symptoms analysis, which have greatly aided in discovery and diagnosis, there has been relatively limited success in treatment.
The impact on patients and caregivers is lifelong. Navigating diagnosis, gaining access to specialists, and determining treatment options, including eligibility for clinical trials, make up an almost insurmountable burden of care which primarily lands on parents and families. While the direct costs of care are a primary consideration, the indirect costs (e.g. lost productivity) and non-medical costs (e.g. in-home caregiving, social & educational accommodation, etc.) add to the burden. See graphic below.
Government incentives, both in North America and Europe, have been implemented to accelerate discovery time and reduce the cost of rare disease treatment. This has led to a steady increase in treatment approvals. For example, the US FDA approved an average of 1 treatment per year in the decade before the 1983 Orphan Drug Act, while now approves ~50 treatments per year, with >600 approved from 1983. The US effort remains sustained, with ~600 new treatments under development. A similar path is followed by the European Medicines Agency (EMA).
Approved therapies in North America and Europe span multiple modalities: small molecules (66%), antibody (14%), cell and gene (~2%), and many others such as protein replacement therapies, enzymes, cytokines, blood, hormones/growth factors and vaccines (collectively 18%). Small molecules remain the most prevalent because they can target many tissues, can be easily administered with controlled dosing, are stable, and can be produced at reasonable costs. However, other therapeutic modalities are growing in share.
These emerging therapies and modalities require new treatment pathways, delivery systems, and reimbursement models. Most importantly, they necessitate detailed and thoughtful patient journey mapping to determine the most efficient tools, technologies, and processes to address all aspects of living with rare diseases with improved prognoses.
There are 3,000 disease-associated protein-coding genes whose activity can be modified by pharmaceuticals: less than 700 are targeted by currently approved drugs worldwide. Much of the treatment discovery work is ahead of us.
By putting the Spotlight on patients, Luminous can work with you to envision the rare disease patient journey and commercialize new therapies.