The last day of February is 2021 Rare Disease Day- used to call for action for people living with a rare disease to have equal opportunities to realize their full participation in family, work and social life.
The World Health Organization estimates roughly 300 million people globally are affected by an orphan disease and there are as many as 7,000 rare diseases. Clinical research has responded over several decades to diagnose and provide treatment or prevention- but most rare diseases are still without treatment.
The term “orphan” disease was coined at a time when drug companies were not interested in adopting rare diseases to develop treatment. Congress responded by passing into law the Orphan Drug Act of 1983 to facilitate treatment development for those with rare disease who had yet to benefit from modern advancements in clinical research. The law would define and further incentivize research efforts for those with rare diseases and “by 1990, the FDA had designated 370 products for orphan status, and of these 49 were approved for orphan indications.” This would be a first step toward inclusivity for those living with rare disease.
There have been many milestones for equity since 1983, but there is more work to be done on behalf of rare disease patients. Challenges in clinical research for rare disease stem from the small patient populations of the individual disease and the logistics of recruiting and engaging diverse, international participants. Conventional research formats are less appealing to a patient or caregiver, where site visits to a limited number of designated and equipped facilities are a barrier to participation. Developing study logistics with these patients’ experience in mind is a practical step toward inclusivity and can improve access to (and enrollment in) rare disease studies.
Clinical trials are improving patient experience by decentralizing and deploying patient-centered approaches for orphan drug development. When local travel is already burdensome, navigating an international move is not feasible for patients or families affected by rare disease. Concierge services for individualized travel removes immediate participation barriers and provides responsive, knowledgeable patient travel support specialist to manage and trouble-shoot the unexpected. Studies can utilize services like direct-to-patient delivery when travel is not possible. At-home delivery reduces travel burden while keeping patients on schedule, providing an additional avenue to access potentially life-saving treatments.
We have recently supported orphan drug studies, providing comprehensive patient logistics services for small, international patient populations. In one study, a small population of patients with Scleroderma or CREST Syndrome who were photosensitive, were provided:
air and ground travel concierge service,
lodging and relocation support,
expense cards and reimbursement,
investigational product (IP) or direct-to-patient delivery,
VISA and passport assistance,
and translation/interpreter services to support their study participation.
Patients and their caregivers had 24/7 access to one-on-one logistics support during the study. For most, participation would have been extremely difficult, if not impossible, without varied specialized support services.
Sponsors, CROs and sites now have more options to better address the needs of rare disease patients.
Resources
Rare Disease Day 2021: What is Rare Disease Day?: https://www.rarediseaseday.org/article/what-is-rare-disease-day
The Story Behind the Orphan Drug Act: https://www.fda.gov/industry/orphan-products-development-events/story-behind-orphan-drug-act
GARD Genetic and Rare Diseases Information Center- FAQs: https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
The Association of Clinical Research Professionals “Common Problems in Clinical Trials for Rare Disease”: https://acrpnet.org/2020/05/11/common-problems-in-clinical-trials-for-rare-diseases/