There are 6,000 known rare diseases affecting more than 300 million persons worldwide. Over the past decade, those rare conditions – most often with a genetic basis and life-threatening outcomes – have become a matter of public health concern. In an effort to motivate and encourage progress in finding therapies and programs to support patients and patient organizations, families and caregivers, EURORDIS created Rare Disease Day® to raise awareness among the general public, lawmakers, healthcare professionals, pharmaceuticals and the scientific community.
Rare Disease Day Facts
Rare Diseases Europe (EURORDIS) created the event in 2008. At first, it was observed in 18 countries and featured different events and awards. The United States joined in 2009. It has since become a global affair, with 105 countries participating in over 300 events.
The purpose of this dedicated day is to shine a light on the challenges that come with a rare disease, with the hope that affected people will ultimately obtain equitable access to diagnoses, care and treatment.
Rare Disease Day 2020
Rare Disease Day is annually held on the last day of February, a rare month in itself because of its unusual number of days. Leap years are even more special. Rare Disease Day 2020 will be held on the 29th of February under the theme “Reframe Rare for Rare Disease Day.” Rare Is Many. Rare Is Strong. Rare Is Proud.
Understanding Some of the Challenges of Rare Diseases
Due to the rare nature of their illness, patients and their families suffer a heavy financial and social burden. There is no mainstream access to trained caregivers and unequal opportunities to receive treatment (when it exists) because of geographical heterogeneity.
From a medical standpoint, the lack of experts, absence of scientific knowledge and insufficient information often result in misdiagnosis. Epidemiological data is scarce, and symptoms of a rare condition may be interpreted as characteristics of another, better explored and researched illness.
One of the most comprehensive sources of data may be Orphanet, which codifies, maintains and updates a rare disease database (with over 6,100 documented diseases to date), gathering knowledge from a community of 26,000 experts.
A knowledge vault is crucial for making progress in diagnosing rare diseases, bearing hope that it will incite more clinical studies and clinical trials.
Clinical Trials in the Rare Disease Space
Despite efforts to accelerate time-to-market for rare disease therapies, pharmaceuticals show reluctance to dedicate costly resources to this space, and with good reason. There are too many uncertain variables and obstacles to justify the investment without a certain assurance of ROI. Some avenues lawmakers and regulatory bodies have to explore are facilitating international collaboration, proposing funding “without—borders” and harmonizing approval processes. Unfortunately, there is still a lot of work to do.
General obstacles to clinical trials for rare disorder drugs include:
- Dispersed patients complicate recruitment and logistics
- Accessibility to study sites may be costly to patients if not covered
- Validated biomarkers and surrogate end-points are lacking
- Cause, pathophysiology, and course of the disease are unknown
- Resources and funding are insufficient
- Clinical expertise is far too limited
Global hindrances include:
- Lack of harmonized disease classification system that impedes the enrichment of epidemiological knowledge
- Differences in regulatory approval processes that make submission requirements and timelines difficult to manage
- Protocol reviews by several authorities and ethic committees, creating delays
- Logistics of drug procurement are contingent on production in sites across several countries or international trade constraints
- Health insurance systems and requirements for clinical trials vary from country to country
- Communication across different time zones and language barriers create delays and possible misinterpretation of clinical data and misunderstanding of legal obligations
These are but a few of the challenges inherent to rare diseases, for patients and for research and development actors.
International communities and regulatory bodies are hard at work to smooth out bureaucratic and legislative obstacles. Many organizations are also on the ground year-round to secure sponsors and funding so those hundreds of thousands of people suffering from a rare disease can have a chance to a better life.
Until then, Treximo strongly encourages its employees, partners, clients, and everyone to take part in Rare disease Day 2020. Take a leap of faith and show your stripes!