On the road to new treatments for rare diseases, clinical trials pave the way. By working together with patients, doctors and researchers can learn more about diseases and improve outcomes.
Marc Rothenberg, M.D., Ph.D.
Principal Investigator, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
Why are clinical trials important for rare disease research?
Marc Rothenberg: Clinical trials are important because they provide evidence that a particular approach to a disease’s treatment — or cure — is effective. In rare diseases, clinical care is often based on clinical experience rather than evidence-based medicine due to the small number of patients. Clinical trials elevate the evidence for making medical decisions, sometimes supporting or disproving a treatment approach and identifying differences in responses.
Ellyn Kodroff
President, Campaign Urging Research for Eosinophilic Disease (CURED)
Why is it important for patients with rare diseases to join clinical trials?
Ellyn Kodroff: Without clinical trials, treatments would be limited or non-existent for rare diseases. Participating in trials helps researchers gather the data needed to understand the disease better and develop effective treatments or cures.
By joining clinical trials, it will also ensure your experiences and needs are considered. The patient’s voice is so important. Patients in clinical trials often receive specialized attention from medical experts and access to advanced diagnostics, which can improve their overall care.
What are the challenges of clinical trials for rare diseases?
MR: The main challenge is finding enough patients. Also, most diseases are influenced by environmental factors, which are different in every patient. So, a major challenge is identifying enough patients and making sure that patient diversity is taken into consideration whenever possible.
Finally, rare diseases may take a long time to diagnose, and patients are often in advanced stages, providing challenges related to the irreversibility of the disease process and concerns about the danger of including a placebo arm. Additionally, including pediatrics is important, but this can be hindered by the frequent need to do early-stage studies in adults — and their more advanced diseases may make them harder to study and successfully treat.
How can clinical trials impact patients’ lives?
EK: Patients gain access to experimental treatments that might not be available elsewhere, most likely improving their condition or quality of life. Clinical trials usually include advanced monitoring and testing, which can help patients and their doctors better understand the progression and management of their specific condition. There may also be an opportunity to meet with other patients in the trial to feel less alone.
How can patients find and join clinical trials?
EK: ClinicalTrials.gov is a global database listing thousands of clinical trials across diseases, including rare conditions. Patients can search by disease, location, or treatment type.
Organizations like the National Organization for Rare Disorders (NORD), CURED, or disease-specific groups often share trial information and connect patients to researchers. We also work with pharmaceutical companies to help recruit for trials. Most of the specialists are working with clinical trials and should be able to direct patients to trials they would benefit from.
We encourage patients to ask questions and raise concerns with the researchers conducting the trials. By contacting these resources, patients can find opportunities to contribute to research while potentially benefiting from cutting-edge therapies.
