The FDA classifies more than 6,000 diseases as rare, which means that they affect less than 200,000 people in the United States. Only 5% of these diseases currently have FDA-approved treatments.
This lack of treatment options is devastating for the hundreds of millions of people worldwide who suffer from a rare disease, especially since many of these diseases are degenerative and life-threatening. To find better treatments for rare diseases, we must rethink how we run clinical trials.
Technology plays an important role in this transformation, but not the only one. Research sites and sponsors also need to try new methods for recruiting patients, form partnerships with one another, and adopt the FDA’s accelerated approval pathways where possible.
The Challenges of Rare Disease Clinical Trials
The first challenge of rare disease trials is the most obvious: it’s hard to find patients. Around 3.5%-6% of people have a disease classified as “rare.” An even smaller percentage will have the specific disease that a clinical trial is attempting to study.
For example, cystic fibrosis, a rare disease, affects around 70,000 people worldwide at any given time. Breast cancer affects around 2.3 million people worldwide. So it is roughly 30 times easier to find a candidate for a breast cancer clinical trial than for a cystic fibrosis trial.
Rare disease trials often need to recruit patients from around the world to meet their enrollment goals. But having sites in multiple countries participating means the trial must receive approval from multiple complex regulatory bodies. It also means sponsors must collect and monitor documents and data from many different sites, which involves complex privacy and data regulations and can slow down trials.
Because rare disease clinical trials serve a smaller portion of the population than oncology or infectious disease trials, they also suffer from less funding. On top of these perennial challenges, many rare disease trials had to stop because of the Covid-19 pandemic and were therefore behind when they started up again.
Can Technology Help With These Challenges?
Technology can help rare disease trials increase recruitment rates, improve communication, speed up their workflows, and make the most of the funding they have. Patient recruitment software to identify eligible patients, as well as telemedicine and eConsent to manage remote patient visits, are wonderful options for rare disease studies.
But new technology alone won’t get treatments for rare diseases to market faster. Rare disease researchers need to embrace technology, but they also need to engage in greater collaboration and explore the use of accelerated approval tracks and surrogate endpoints.
Increasing Recruitment for Rare Disease Studies
The majority of clinical trials struggle to find enough patients: in fact, 80% of clinical trials don’t complete the enrollment phase on time. Since rare disease trials have fewer potential participants than the average trial, recruitment can prove even more difficult for them.
Rare disease trials can benefit greatly from patient recruitment software, software that uses AI to match patients with trials that fit their diagnosis or genetic profile. Patients willingly submitting their genetic information to databases is especially helpful for rare disease trials because a majority of rare diseases are genetic.
Research sites can also increase patient recruitment by expanding the areas they serve. Many patients who live hours away from trial sites have logistical and financial concerns about participating in clinical trials. Though the treatments themselves don’t cost patients, transportation and missing work do.
If patients can use telehealth calls or mobile apps to participate in some trial visits from home, they may be more likely to sign up for trials. Participants can also benefit from going to trial visits at local pharmacies and doctors’ offices instead of exclusively at distant academic medical centers. Flexibility is key–patients should be able to use tech if it helps them and see research staff in person when that is what they need.
95% of research sites now offer telemedicine visits, while 91% use or plan to use electronic informed consent documents. These tools can benefit patients who can’t take off work for appointments, don’t have access to a car, or have vision- or mobility-related disabilities caused by a rare disease.
Sharing Data Among Rare Disease Groups
Because rare disease trials often have limited funding and a small pool of participants to draw from, researchers must collaborate instead of compete. In the U.S., the National Institutes of Health has created the Rare Diseases Clinical Research Network to encourage researchers to share data about how diseases progress and the best options for treatment.
For these collaborative networks to function, researchers need technology that lets them share approved data. Approved data includes data that patients have given permission to share or study data that contains no PHI.
For example, rare disease researchers could store their documents and data in a secure database and then give other researchers access only to specific, designated documents within that database. From these documents, the researchers could gain the approved data they need to advance rare disease research.
Using Surrogate Endpoints and Accelerated Approval
A recent study found that using accelerated approval programs with surrogate endpoints could reduce the cost of rare disease clinical trials from roughly $90 million to $28-40 million per trial. This would allow sponsors to test 25-36 drugs for every $1 billion they spend, instead of only 11.
An accelerated approval path refers to any regulatory program that helps treatments get approved faster. Surrogate endpoints are data that shows a treatment may combat a disease, even if researchers aren’t yet sure about the ultimate patient outcome.
Oncology and HIV research both demonstrate that using surrogate endpoints can help more treatments get to market. 26 new cancer drugs have received FDA approval based on tumor load or progression-free survival, and 29 HIV drugs have been approved based on CD4 count or viral load.
Because rare diseases are often degenerative or terminal, finding new treatments quickly is essential. And since 72% of rare diseases have genetic causes, it’s easy to find biomarkers to use as surrogate endpoints in accelerated trials. However, this will only work if regulatory bodies like the FDA and European Medicines Agency accept rare disease trials into accelerated approval programs.
Technology can assist sponsors in setting up trials and activating clinical trial sites quickly. But tech will only play a small role within the larger movement toward accelerated approval.
The Future of Rare Disease Clinical Trials
Technology can help rare disease clinical trials by making it easier for sites to find patients, share data, and run accelerated approval studies.
But technology alone won’t overcome the challenges of rare disease clinical trials. If we want to push more treatments for rare diseases to market, sites and sponsors must make trials easier for participants, work together across international borders, and participate in accelerated approval programs. We need to embrace a variety of strategies to serve the millions of people waiting for life-changing rare disease treatments.
Photo: Warchi, Getty Images
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