Patients with rare diseases face a great challenge to get properly diagnosed, on average waiting 6 years from when symptoms develop. Even with proper diagnosis, currently only about 350 of the 7,000 rare and orphan diseases (those conditions affecting less than 200,000 people nationwide) have treatments.
A decisive step in the development of a therapy is the clinical trial. A clinical trial is where experimental treatments are tested on a small group of patients. However, these diseases affect so few people that many clinical trials are stopped due to inability to identify and recruit patients. If a clinical trial can’t be run, then development of a treatment can’t continue, creating a potentially life-threatening health crisis for those affected by the disease.