Rare or orphan diseases are those diseases that are relatively infrequent in occurrence. In the United States, for example, a rare or orphan disease is defined as “a disease or condition affecting less than 200,000 persons in the United States.” In reality, however, the large majority of rare diseases, of which there are over 7,000, are far less prevalent.
Worldwide rare diseases affect between 6% and 8% of the population (or 420 million to 560 million people), thus imposing a significant global burden. Of this total, approximately 6 million patients affected by rare diseases are in Mexico, 13 million in Brazil, and 3 million in Argentina.
Many orphan diseases are life threatening and progressive in nature. For those reasons, incentivizing the development of treatments for rare diseases, while financially problematic, is essential to preventing or slowing down the progression of mental or physical disabilities and improving patients’ quality of life. Moreover, given that certain groups of patients may respond differently to therapies, research and testing must include a diverse population, including different ages, races, ethnic groups, and genders.
The prevalence and adversity of rare diseases and the challenges associated with developing clinical trials has gained significant attention in the global healthcare industry. Stakeholders have realized the necessity and importance of urgently addressing the widening concerns posed by rare diseases, including the need for discovering treatment options and methods of early detection.
Due to the sheer nature of rare diseases, the exposure of clinicians to patients diagnosed with such diseases is limited. This lack of exposure impedes clinical studies, thereby slowing or even preventing the accumulation of scientific knowledge regarding the natural disease course, treatment outcomes and prognosis in patients with rare diseases. An excellent method for detecting patterns on an aggregate level, thereby increasing both early detection and the application of successful treatment options on an individual basis, is the development of a comprehensive rare disease registry.
CORDS RARE DISEASE REGISTRY
The Coordination of Rare Diseases at Sanford (CoRDS) is a centralized international patient registry for all rare diseases.The CoRDS registry was established in 2010 to serve as a central resource for data on rare diseases with the aim of accelerating research into those diseases.
The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases.
The CoRDS registry is free for patients to enroll and for researchers to access. CoRDS works with patient advocacy groups, individuals, and researchers to coordinate the advancement of research into the 7,000 rare diseases.
CoRDS is headquartered in the Sanford Children’s Health Research Center at Sanford Research in Sioux Falls, SD and supervised by David Pearce, PhD.
How CoRDS works
The CoRDS registry specifically houses basic contact and clinical information on any individual who chooses to enroll that has been diagnosed with a rare disease, a disease of unknown prevalence, or is still waiting for a diagnosis. Researchers with appropriate Institutional Review Board (IRB) approval may apply to access that de-identified data set in order to determine if any individuals in the registry are eligible for their research study.
Any individual diagnosed with a rare disease, an uncommon disease with unknown prevalence, or any individual who is undiagnosed can enroll in CoRDS. Organizations that support individuals affected by rare diseases can collaborate by sharing information with their membership about the registry and the opportunity to enroll. Participants who want to enroll, can complete the CoRDS Screening Form. After submitting the form, they will receive a unique username and password which they can use to log in and enroll by the secure platform.
Researchers with IRB approval can apply for access to CoRDS. After the researcher’s application has been reviewed by the CoRDS Advisory Board, they may log in to CoRDS and view de-identified data that might be helpful to the research they are conducting. If they are interested in contacting a participant, they may notify CoRDS personnel who will contact the participant on the researcher’s behalf. Participants will be notified of opportunities to participate in clinical trials and other research.
CoRDS Registry in Latin America
Currently, the CoRDS registry represents nearly 5,000 participants in 59 countries. The vast majority of these participants either speak English or are from English-speaking countries. The Americas Health Foundation (AHF), is partnering with Sanford Research to expand patient participation in the CoRDS registry to include rare disease and undiagnosed patients throughout Latin America.
AHF will translate the CoRDS registry platform into Spanish and Portuguese to facilitate the enrollment process for patients throughout Latin America. Additionally, AHF will conduct outreach and education among rare diseases organizations, medical societies, patient advocacy groups and other key stakeholders in Latin America to increase awareness regarding the opportunity for rare disease and undiagnosed patients in Latin America to participate in the the CoRDS registry and potential to connect with researchers conducting clinical trials or research studies on their disease.
The Amercias Health Foundation has received an initial seed grant of $45,000 from Sanford Rearch toward expanding the CoRDS rare disease registry to Latin America. AHF and Sanford Research are seeking partners from the pharmaceutical and biotechnology sectors as well as from private foundations who have an interest in working in rare diseases. It is our hope that potential funders share our vision of introducing the Latin American rare disease community to the benefits of participation in CoRDS. The expansion of CoRDS within Latin America, with the help of AHF, will open up new partnerships with patient advocacy organizations and allow individuals living with rare diseases the opportunity to participate in a rare disease registry and access the registry services.
Merkel Cell Carcinoma
Merkel cell carcinoma (MCC) is a rare yet highly aggressive form of skin cancer which, in approximately 80% of cases, is caused by the Merkel cell polyomavirus (MCV). While the dangers of other skin cancers like malignant melanoma are ingrained in most physicians’ minds, MCC remains an unfamiliar and neglected disease. Although MCC is 40 times rarer than melanoma (an estimated 0.24 cases per 100,000 persons in the U.S.), it kills about one in three patients compared with one in nine for melanoma. Moreover, the annual incidence of MCC is rising more quickly than that of melanoma, at 8% annually, and one-third of patients die within 3 years of diagnosis. Despite these sobering figures, a timely diagnosis followed by excision and radiotherapy can be curative in early disease. As a result, efforts to increase physician education and awareness of MCC, particularly among family physicians, is of the utmost importance for early diagnosis and successful treatment.
In November 2017, the Americas Health Foundation (AHF) convened a meeting of six Latin American experts to review MCC in the Region, including oncologists, dermato-oncologists and pathologists, to validate available data on the burden of illness and develop recommendations for increasing the early diagnosis, treatment, quality of life and optimal management of MCC in the Region. The resulting article, “Burden of Disease, Early Diagnosis and Treatment of Merkel Cell Carcinoma in Latin America,” is currently under review for publication.
Click here to learn more about the CORDS registry.