This February we celebrate the 16th annual Rare Disease Day, established in 2008, to raise awareness of the more than 7,000 identified rare diseases worldwide. Rare Disease Day is observed annually on the “rarest” day of the year, February 28th or 29th depending on leap years. Created by The European Organization for Rare Diseases (EURORDIS), this globally coordinated event brings together industry stakeholders to advocate for increased access to medical treatment for patients, caregivers, and their families.
Since its inception, this yearly observance has been crucial in building a multi-disease, global and diverse international rare disease community. EURORDIS partners with many organizations for this celebration, including their United States-based counterpart The National Organization for Rare Disorders (NORD).
Grappling with a rare disease diagnosis and navigating limited treatment options can be highly challenging. Due to the nature of these uncommon diseases, a high percentage of patients will experience a sense of isolation, fear, or uncertainty. Given that less than 10% of rare diseases currently have an available treatment approved by the United States Food and Drug Administration (FDA), advocating for the speedy development of novel drugs and therapies is a crucial step in improving the quality of life for those affected.
What is a Rare Disease?
As defined by EURODIS, a rare disease affects fewer than 1 in 2,000 people. They can exhibit a broad range of symptoms and degrees of severity within the disease state and among its patients. About 4% of the population are affected, with an estimated thirty million currently living with these conditions.
More than 70% of rare diseases are genetic in nature with nearly half of them impacting pediatric patients. In these instances, the disorder not only affects the diagnosed child but also casts a ripple effect on their families and caregivers. The genetic nature of these diseases introduces the possibility that more than one child within a family may be diagnosed with the same rare condition, further complicating the already challenging task of caring for a young loved one with special medical needs.
More than 500 rare cancers have been identified to date, constituting over 25% of all known cancer types. Since rates in children are generally low, every pediatric cancer is deemed rare. Similar to genetic diseases, comprehensive knowledge about diagnoses during childhood is often relatively low within the medical community.
Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, and research is extremely limited. Despite the substantial collective presence of rare disease patients, individuals with these disorders can find themselves marginalized within health systems and frequently denied access to diagnosis, treatment, and the advancements derived from research. The industry term “orphan diseases” is derived from these neglected conditions whose treatments are often not considered profitable enough due to the limited patient population.
Clinical Research Pain Points
The clinical trial process is foundational for transforming robust research into pivotal strides in healthcare innovation. Due to the challenges mentioned above, study recruitment and retention throughout completion continue to be major roadblocks in bringing new treatment options to market faster.
Nearly 80% of clinical trials fail to finish on schedule with 20% delayed over six months or more. While the reasons for these delays can vary, an estimated two-thirds of trial sites fail to meet initial patient enrollment target numbers. Additionally, 85% of studies cannot retain enough participants through trial completion Therefore, they are not able to collect the necessary data needed to validate the effectiveness of new treatment options.
One of the primary reasons patients drop out of clinical trials is the financial strain associated with participation. Patients may have to take time off work to attend clinical sites for treatment, incurring significant travel costs and resulting in loss of income. Even if these expenses are later reimbursed, many patients face challenges making the initial payments required to start the trial process. In an independent study by Clincierge, 62% of patients and 59% of caregivers reported that travel-related challenges and the subsequent financial implications of participation prevented them from participating in a trial.
There are also many logistical and emotional barriers when traveling to clinical sites, especially in trials requiring cross-border travel. Navigating international travel, particularly for extended periods, requires logistics expertise, a global network, ample time, and incredible perseverance. In addition, documentation (passports, visas, etc.) and health requirements (immunizations, timed COVID-19 testing, etc.) must be accounted for and arranged accordingly. When patients are left to handle these tasks all on their own, the experience can be extremely overwhelming and emotionally draining.
The Role of Patient Support Services
Given the various obstacles facing rare disease trial participants, pharmaceutical sponsors, and clinical research organizations (CROs) should invest in a patient concierge services provider to improve access to clinical trials. Much like a hotel concierge, a patient concierge manages all logistics related to study participation for patients and their caregivers. These services include, but are not limited to:
- Itinerary planning (flight and rail ticketing, hotel accommodations, ground transportation)
- Reimbursements for meals, incidentals, mileage, tolls, and parking
- Stipend payments for site visits
- Wage reimbursement, where applicable
- Interpretation and translation services
- Visa and passport assistance
- Long-term housing and relocation services
In addition to managing the logistics of participation, a patient concierge continuously provides personalized emotional support to rare disease study participants and their caregivers, allowing them to feel more comfortable and secure throughout the duration of a trial. This one-on-one level of support allows the patient to focus on their treatment and the caregiver to focus on assisting the patient, easing the path to trial completion for both.
When a pharmaceutical sponsor or CRO makes the strategic decision to integrate these services into their trial protocols, it demonstrates their prioritization of patients and caregivers, illustrating their commitment to enhancing the overall trial experience. This trial model, in turn, leads to more sucess with better data collection and more diverse treatment options.
Supporting the Rare Disease Community
For those receiving a rare disease diagnosis, joining advocacy groups, forums, and online communities can offer the support and additional resources needed to assist with the added burdens of the disease state. Online communities are often a wealth of information about innovative treatment options, potentially life-enhancing or lifesaving clinical trial opportunities, and an essential means of emotional support.
Rare disease advocacy group resources for families:
- Circle of Care Guidebook for Caregivers of Children with Rare Illnesses
- NORD Rare Kids Network
- Global Genes
- Genetic Alliance Advocacy Atlas
- NIH Genetic and Rare Diseases Information Center
To get involved in Rare Disease Day throughout the month visit rarediseaseday.org to find local activities.
