Rare disease patients often face an uphill battle in finding effective treatment. These conditions may be “rare” individually, but collectively they affect hundreds of millions of people – an estimated 300 million individuals worldwide live with a rare disease. Yet for most of these patients, an accurate diagnosis can take years and effective therapies are hard to come by. In fact, about 95% of rare diseases lack an FDA-approved treatment, and getting a correct diagnosis can commonly take 3–15 years. This lack of established options leaves many patients feeling isolated and desperate for answers. Clinical trials offer a beacon of hope in this challenging landscape. They provide rare disease patients a chance to access potential new treatments and help advance scientific understanding of their condition. In this article, we’ll explore the challenges rare disease patients face, how clinical trials can address those challenges, the unique benefits trials offer (such as early access to treatments and personalized care), the hurdles to accessing trials, and how to find and join a trial. By understanding these aspects, you’ll see why rare disease patients often have the most to gain from participating in clinical research.
Ready to explore clinical trials for your rare disease?
Find studies near you and see if you qualify — your participation could open the door to new treatment possibilities.
The Challenges Rare Disease Patients Face
Living with a rare disease brings many unique difficulties.
A long journey to diagnosis
For many people, the first big challenge is simply finding out what’s wrong. Rare diseases often start with symptoms that look like more common conditions. This can lead to years of doctor visits, referrals, and even misdiagnoses before the right answer is found. This long and stressful process is often called the “diagnostic odyssey” – and it can take several years, sometimes more than a decade. During this time, the disease may get worse without proper treatment, leaving patients and families anxious and uncertain about the future.
Few or no approved treatments
Another major challenge is that most rare diseases have no FDA-approved treatments available. Pharmaceutical companies have often been hesitant to develop drugs for such small patient populations because research is expensive and the market is limited. As a result, many rare disease patients are left with few, if any, treatment options. They may need to rely on off-label medications (drugs approved for other conditions) or supportive care to manage symptoms. This can be frustrating and heartbreaking – knowing that a possible treatment could exist but not being able to access it.
Limited medical knowledge and support
Because rare diseases are uncommon, many healthcare providers simply don’t have experience with them. Even well-intentioned doctors may not know how best to diagnose or manage these conditions. This often leads patients to go through “trial-and-error” treatments that may not help. Many patients end up becoming experts in their own condition, searching for information and specialists who truly understand their needs. On top of this, rare disease care often involves higher medical costs, travel to see specialists, and the emotional strain of feeling isolated – since it can be hard to connect with others facing the same illness.
All these challenges highlight why clinical trials are so important for rare disease patients. When standard healthcare offers little or no solutions, taking part in research can be a proactive way forward. Clinical trials not only give patients access to new, experimental treatments, but also connect them with expert teams who deeply understand their condition. In the next sections, we’ll explore why rare disease patients often benefit the most from joining clinical trials.
The Role of Clinical Trials in Rare Diseases
Clinical trials are research studies that test new medical treatments – such as drugs or therapies – in volunteers under close medical supervision. For people with rare diseases, these trials are often more than just research. They can be a lifeline.
Because only about 5–10% of rare diseases have an approved treatment, a clinical trial is often the only way a patient can try a potential therapy. Instead of waiting years (or sometimes decades) to see if a new drug will be approved, patients in trials may be able to access promising treatments much earlier.
Another important benefit is that every patient who joins a trial contributes to scientific knowledge. Rare diseases are often poorly understood, and even basic information about how they progress may be limited. By joining a trial, patients help researchers learn how the disease behaves and how new treatments might work. This knowledge doesn’t just help the participants – it can improve diagnosis, care, and future treatments for the whole rare disease community. In this way, patients become active partners in pushing research forward.
Clinical trials also provide hope where there might otherwise be none. For families facing a rare illness with no existing treatment, knowing that researchers are actively testing a potential therapy brings a sense of possibility. Trials also speed up the process of getting new drugs approved, since they provide the evidence regulators need to make those decisions. Policies such as the Orphan Drug Act were created specifically to encourage the development of treatments for rare diseases. Thanks to these efforts, hundreds of new therapies have been approved in recent decades. Still, with over 7,000 rare diseases identified, only a small percentage currently have treatments. That’s why patient participation in clinical trials is so critical – it helps keep progress moving.
In short, clinical trials play a crucial role in rare diseases. They turn lab research into real treatment opportunities and give patients access to medicines that would otherwise remain out of reach. Next, we’ll look at the unique benefits rare disease patients can experience when they take part in clinical trials.
Unique Benefits of Clinical Trials for Rare Disease Patients
Unlike patients with more common illnesses (who may already have several treatment options), people with rare diseases often stand to gain the most from participating in clinical trials. Here are some of the unique advantages trials can provide:
Early Access to Potential Treatments
For many rare disease patients, a clinical trial is a chance to try a new treatment years before it becomes publicly available. Trials often give participants access to experimental drugs or therapies that can’t be obtained anywhere else. This early access can be life-changing.
When no approved treatments exist, receiving an investigational medicine might slow the progression of the disease or improve symptoms at a time when no other option is available. Families often describe this as an opportunity to restore hope – even if a cure isn’t guaranteed, the chance of stabilizing the condition or gaining improvement is invaluable. And if the treatment proves effective, patients in the trial will have already had the benefit long before it’s on the market.
Personalized Care and Close Monitoring
Joining a clinical trial often comes with specialized medical attention that can exceed standard care. Trial teams are usually experts in the rare disease being studied, so participants are treated by doctors and nurses who truly understand their condition.
Patients in trials receive very close monitoring – with frequent check-ups, detailed health tracking, and regular communication with the study staff. This means any side effects or new symptoms are identified and addressed quickly. Many participants feel they are in safe hands and appreciate how thorough the follow-up care is, often much more than what they experience in routine doctor visits. Because trials follow strict protocols, patients also benefit from structured, reliable care and strong support from a dedicated medical team.
Expanded Access and Compassionate Use
Sometimes a patient cannot join a clinical trial – either because they don’t meet the eligibility criteria or because there are no open studies for their condition. In these cases, Expanded Access Programs (sometimes called “compassionate use”) may still offer a way to receive the investigational treatment.
With permission from regulators and the company developing the drug, a doctor can sometimes obtain the experimental therapy for a patient outside of the formal trial. These programs can be a lifeline for people with serious or life-threatening rare conditions, making sure they are not left behind simply because they don’t qualify for a study.
Expanded access often comes at no cost to the patient, and in some cases, the experience also helps researchers gather more real-world information about the treatment’s safety and effectiveness. While not every drug company offers this option, it is becoming increasingly common in rare diseases. Patients should always ask their doctors if expanded access might be available.
The bottom line: Clinical trials – and related programs like expanded access – open doors to treatments that rare disease patients would not otherwise have. For many, these opportunities bring not only medical benefits but also renewed hope for the future.
Challenges in Trial Access for Rare Diseases
If clinical trials can be so valuable, you might wonder: why isn’t every rare disease patient part of one? The reality is that joining a clinical trial can be difficult. Rare disease patients often face practical and systemic barriers that make enrollment challenging.
Limited Trial Availability and Strict Criteria
Because rare diseases affect relatively few people, there may only be a handful of clinical trials – or sometimes none at all – for a specific condition. Even when a trial does exist, it usually has strict rules about who can join, such as age limits, disease stage, or other health requirements.
With such a small patient pool to begin with, these rules can exclude many people who want to participate. For example, someone may be turned away because their disease is too advanced, or because they have another health issue that doesn’t fit the trial’s criteria. Trials also have a limited number of slots, and they can fill quickly. As a result, many willing patients end up on waiting lists or simply have no trial available at the right time.
Geographic and Logistical Barriers
Rare disease trials are often held at large hospitals or research centers, which may be far from where patients live. Traveling long distances for regular appointments is one of the biggest challenges. It can mean hours of driving, repeated flights, time off work, and arranging childcare – all while managing a serious health condition.
The costs of travel, lodging, and lost income can also add up quickly. While some trials help cover expenses, not all do. For patients living in another country, issues like visas, insurance, or healthcare coverage can create additional obstacles. Physical limitations, such as mobility challenges, can also make frequent trips exhausting. Unfortunately, where a patient lives often determines whether they can take part in a trial – even though it shouldn’t.
Information and Awareness Gaps
Another major hurdle is simply finding out what trials exist. Many patients and families don’t hear about clinical trial options at the time of diagnosis. Doctors who are not specialists may not be aware of current studies or research networks.
In some cases, misdiagnosis delays access – if a patient is treated for the wrong condition for years, they may miss the chance to join a trial for their actual disease. Even when information is available, the process can feel overwhelming. Scientific language, complicated consent forms, and uncertainty about how to enroll can discourage participation. Cultural or language barriers may add to the difficulty of communicating with research teams.
All of these challenges contribute to under-enrollment in trials. This means that even though rare disease patients have the most to gain, many never get the opportunity simply due to lack of knowledge, resources, or support.
Signs of Progress
The good news is that awareness is improving. Patient advocacy groups, research organizations, and medical centers are stepping in to bridge the gaps. They are creating registries, sharing trial information online, and providing support with travel and logistics. These efforts are making it easier for rare disease patients to learn about and access trials – and giving more families a chance to participate in research that could change their future.
How to Find and Join Clinical Trials
If you or someone you love has a rare disease and you’re interested in clinical trials, there are several ways to explore your options. Here are some practical steps to help you get started:
Use Online Trial Databases
You can begin your search on websites that list ongoing clinical studies. Large registries allow you to search by condition, location, or treatment type. Some platforms are especially patient-friendly and make it easy to filter by your rare disease, see what the trial is testing, who can participate, and how to contact the study team. These tools can help you create a shortlist of trials that may be a good match.
Connect with Rare Disease Organizations
Patient advocacy groups and rare disease foundations are excellent sources of information. Many of them keep track of current trials and research for specific conditions. They may run newsletters, forums, or patient registries that alert members about new opportunities. Beyond information, these groups often provide practical help such as advice on travel, caregiving support, or even financial assistance. They can also connect you with other patients who have gone through the process, which can be encouraging when you’re making decisions.
Talk to Your Doctor or Specialist
Your healthcare team is a key resource. Specialists in your rare disease may already know about ongoing or upcoming trials. If they don’t, they can often refer you to research hospitals or rare disease centers that do. Start by asking, “Are there any clinical trials I should know about?” Doctors can also explain the potential risks and benefits, and check whether a trial is medically safe for you. Once you identify a trial, your doctor can help coordinate with the research team, for example by sharing your medical records or arranging required tests.
Contact the Trial Team Directly
When you find a trial that looks promising, reach out to the study coordinator or investigator listed in the details. They can answer your questions, confirm if you might be eligible, and walk you through the next steps. Before enrolling, make sure you understand what the trial involves: how long it lasts, what treatments or tests are required, and what kind of travel or time commitment it will take. It’s a good idea to discuss these details with your family and your doctor.
Know That Participation Is Voluntary
Joining a clinical trial is always your choice. If you decide to move forward, you’ll go through an informed consent process, where the research team explains everything about the study and you have a chance to ask questions. You can withdraw at any time if you no longer feel comfortable.
Volunteering for research is a big decision, and it helps to know exactly what to expect. Our guide breaks down the process step by step, so you feel confident and prepared.
Finding the right clinical trial may take effort, but you don’t have to do it alone. By using online tools, connecting with advocacy groups, and talking with your healthcare providers, you can identify opportunities that fit your needs. Every step you take toward exploring trials is a step toward potential new treatments – not just for you, but for others living with the same rare disease.
Summary
Rare disease patients face extraordinary challenges – from delayed diagnoses to the lack of approved treatments – but clinical trials offer a path forward. These studies provide hope by giving patients access to experimental therapies, often years before they become available to the public. For many, trials can be life-changing, offering early access to cutting-edge treatments and specialized care from expert medical teams.
Beyond personal benefits, participation also helps the entire rare disease community. Every patient who joins a trial contributes to scientific knowledge, helping researchers better understand the condition and paving the way for future breakthroughs.
Of course, enrolling in a trial can come with challenges, such as finding a suitable study, traveling to a trial site, or meeting eligibility requirements. But with the right resources and support, these barriers can be overcome – and the potential benefits make the effort worthwhile.
In many ways, rare disease patients benefit most from clinical trials because these studies offer something priceless: a chance at treatment where none existed before, and a sense of empowerment in the face of uncertainty.
If you or a loved one is living with a rare disease, consider exploring clinical trial options as part of your care plan. Talk to your doctor about what might be available, and use trusted platforms to discover studies that fit your condition. Remember, every advancement in rare disease treatment has been made possible by patients who volunteered for research – your participation could be the key to the next breakthrough.
FAQs
Are clinical trials safe for patients?
Yes. Patient safety is the top priority in any clinical trial. Before a study begins, it must be reviewed and approved by an ethics board to ensure risks are minimized. During the trial, participants are closely monitored by medical professionals. While no trial is completely risk-free, you’ll be fully informed of potential risks and can withdraw at any time.
Do I have to pay to join a clinical trial, or will I be compensated?
You don’t have to pay to join a legitimate trial. The study drug and required medical tests are provided at no cost. Many trials also cover travel, lodging, or meals, and some offer small stipends to thank participants. The goal is to make sure you’re not financially burdened while volunteering.
What if I can’t find a trial for my rare disease, or I’m not eligible?
If no trial is open or you don’t meet the criteria, talk to your doctor about alternatives. Sometimes patients can access investigational treatments through “expanded access” or compassionate use programs. You can also join patient registries or advocacy groups, which often share news of upcoming studies. And remember, new trials launch regularly, so opportunities may open in the future.
Will I get the actual study drug, or a placebo?
It depends on the trial design. Some studies are placebo-controlled, meaning not every participant receives the investigational drug. However, in serious rare diseases, researchers often avoid long-term placebo use. Trials may use designs where all participants eventually receive the treatment, or offer extensions after the study ends. Regardless, you’ll always be monitored closely, and your care needs will be met throughout the trial.