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Clinical Trials for Rare Diseases

Rare disease patients are needed as participants in clinical trials.

The idea of clinical trials is much in the news these days as medical researchers work hard to identify new treatments and vaccines for COVID-19. A clinical trial is a formal research study that, among other things, tests new therapies to see how well they work and if they are safe to use in humans. It’s an essential step in the Food and Drug Administration’s (FDA) process for approving new therapies.

For those who live with rare diseases, though, clinical drug trials have a more direct impact on their day-to-day lives. Many rare disease patients have few or no options when it comes to effective treatment of their symptoms. Even when medications with confirmed effectiveness are prescribed, they often are used without FDA approval (a practice known as off-label use), which sometimes makes it difficult to get insurance to cover the cost.

Getting new medications to market requires extensive testing in order to attain FDA approval. These studies need to have a sizable number of participants in order to show accurate results. That’s not a problem for common diseases like heart disease and cancer. But with so few people with diseases like myositis, myasthenia gravis, or pemphigus, it can be difficult to get enough qualified participants to show clear results.

That’s why many of the patient organizations that we work with encourage their members to consider taking part in a clinical trial if at all possible. This can be a big decision, one that you should discuss with family members and your doctor to be sure they are comfortable with your participation and the role they may need to play in the process. But it’s a great way feel like you are contributing to a cure.

Clinical trials are not limited to testing medications, but here we focus on clinical trials testing safety and effectiveness of new drugs. We’ve outlined answers to some common questions that can help you understand the general process of participation in such trials. Specific questions about a particular trial can be answered by the study coordinator of that trial.

How does a clinical trial work? Each clinical trial follows a strict set of rules outlining who can participate, what processes will be done, how participants are protected against risks, how long the trial is expected to last, and more. This protocol is designed to clearly answer specific research questions about the treatment. These protocols are outlined for all medications being tested in the US on the NIH website ClinicalTrials.gov. Here you can search for a trial based on disease, drug, location, or other criteria. Each trial also has contact information for additional information.

What is informed consent? All research participants have the right to know exactly what they are getting into. Informed consent is the process of providing you with essential information about the study before you decide to take part. Members of the research team will provide written and verbal explanation of the details of the study, including its purpose, how long it’s expected to last, tests or procedures that will be done as part of the research, and who to contact for further information. All known risks and potential benefits are also explained and included in the document. Before you decide to sign this document (which means you agree to participate) you should ask questions and be sure you understand everything included in it. It’s important to note that taking part in a clinical trial is voluntary, and you can leave the study at any time. 

Why do some patients not receive the treatment? Clinical trial protocols often involve comparing outcomes of patients who receive the new drug or treatment with those who are given a placebo (a non-active substitute). Most times neither the researcher nor the participant knows whether the drug or a placebo is being given. Participants are usually randomly assigned to the treatment or the placebo group. In this way, researchers can clearly see that the medication was responsible for the effect and not some other cause, such as participants getting better on their own.

What are “phases” of clinical trials? New medications and other treatments take place using a step-by-step process that begins in the laboratory (preclinical phases) then moves on to testing in humans. Each of these phases seeks answers to different questions.

These are the questions posed during each of the phases:

  • Phase 1 – Different doses of the drug are tested for the first time in a small group of healthy people—usually less than 100.
    • What are the side effects?
    • Is this drug safe to continue testing?
  • Phase 2 – The drug is tested in a larger group of people who have the disease—ideally a few hundred (but usually fewer in rare diseases).
    • What are the side effects in this population?
    • Does the drug work as treatment for this specific disease?
  • Phase 3 – The drug is tested in a much larger group of people who have the disease—ideally several hundred to several thousand.
    • What are the side effects?
    • How well does the drug work to treat the disease?
    • How much of the drug should people take?
    • How does the drug compare to currently available treatments?
  • Phase 4 – This phase happens after the drug is approved by the FDA and is being used by patients.
    • What are the long-term effects of the drug?
    • What is the best way to use this drug as treatment?
    • Are there other risks to using this drug?
    • Are there other benefits not previously identified?

How safe are these experiments? While all medical interventions carry some amount of risk, those who participate in clinical trials are not “guinea pigs.” The FDA requires researchers to include in their protocols certain measures to ensure the study is ethical, that the rights and welfare of participants are protected, and that the risks are reasonable when compared to potential benefits. And all research organizations require any protocol that involves human subjects to be reviewed, monitored, and approved by an independent Institutional Review Board (IRB) of scientists and ethicists.

You can learn more about clinical trials at the National Institutes of Health (NIH) website.

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