Navigating Clinical Trials: A Guide for Rare Disease Patients
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A condition is defined as a rare disease if it affects fewer than 200,000 individuals. Approximately 7,000 conditions meet this definition. In 2016, the United States Food and Drug Administration awarded $23 million dollars towards a four year period that supported research for 21 different rare diseases. However, most rare diseases lack disease-modifying therapies or effective medications for several reasons, which include:
Poor funding for research and drug development
Incomplete understanding of disease pathophysiology
Small sample sizes leading to poor power to draw conclusions
Insufficient resources (including limited collaboration amongst scientific investigators)
These barriers prevent adequate clinical trials from occurring. In a small study population, these limitations become monumental challenges for rare disease patients, who face an additional issue of placebo-controlled trials where patients are reluctant to be enrolled due to the risk of receiving the placebo rather than the intervention.
Digital advocacy made possible by our technological ecosystem has boosted online efforts internationally to improve funding for orphan drug development, connect rare disease patients to researchers studying their condition, and raise awareness about ongoing clinical trials. The National Organization for Rare Diseases (NORD) is a leader in digital advocacy and through the Rare Action Network (RAN)®, offers a network for patients to connect with other patients, caregivers, and stakeholders in industry to help raise awareness, influence federal policy, and address national issues.
Here at Rare Genomics Institute, we have patient advocates who are committed to coordinating physicians, researchers, and scientific labs specific to a patient’s rare disease. Our multidisciplinary expert team includes advisors sourced from top universities and other organizations who work together to provide pro-bono consulting on individual patient cases when sequencing data is available. We have helped over 825 families and coordinated genetic sequencing for over 380 patients. However, our task is only possible if the researchers, funding, and clinical trials already exist for the patient’s rare disease.
According to the U.S. National Library of Medicine, there are 420,000 registered clinical trials spanning globally, and this number continues to grow rapidly (Chen, 2024). The www.ClinicalTrials.gov platform offers extensive details on clinical studies, including protocols, criteria for participant eligibility, and study outcomes, serving as an essential resource for individuals with rare diseases. This website is where rare disease patients should start when searching for trials to participate in. In 2015, there were 1,531 ongoing clinical trials for rare diseases, of which 802 trials had completed phase 3 or 4 at www.ClinicalTrials.gov (Dechartres, 2016).
Navigating clinical trials as a rare disease patient can be challenging, but patients can begin by consulting resources like ClinicalTrials.gov, which provides a comprehensive list of trials. Engaging with a genetic counselor or rare disease specialist can also help patients understand eligibility criteria and interpret trial requirements. Additionally, leveraging social media platforms and patient support communities can provide updates on new trials and connect patients with others in similar situations. Above all, building a support team of healthcare professionals and patient advocates can streamline the search, increase understanding of trial opportunities, and make the path to enrollment more manageable.
Websites to find clinical trials include:
Clinical Trials.gov (www.ClinicalTrials.gov)
The Research Match (https://www.researchmatch.org/?rm=CRAWebsite)
Know Rare’s Study Finder is another resource where rare disease patients can fill out a short survey and be matched to a clinical study for a potential treatment of their rare disease or condition (https://app.knowrare.com/signup).
During a clinical trial, there is no guarantee that the medication being tested will be effective. However, if a rare disease patient does experience benefits, they may be able to continue the drug free of cost for an extended period of time, until it is approved by the FDA for us.
References
Chen J, Hu Y, Wang Y, Lu Y, Cao X, Lin M, Xu H, Wu J, Xiao C, Sun J, Glass L. Trialbench: Multi-modal artificial intelligence-ready clinical trial datasets. arXiv preprint arXiv:2407.00631. 2024 Jun 30.
Dechartres A, Riveros C, Harroch M, Faber T, Ravaud P. Characteristics and public availability of results of clinical trials on rare diseases registered at clinicaltrials. gov. JAMA internal medicine. 2016 Apr 1;176(4):556-8.