Clinical Trials for Fabry Disease

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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There is currently no cure for Fabry disease, a rare genetic condition characterized by the buildup of a molecule called globotriaosylceramide (Gb3 or Gl-3) within cells.

Researchers are working to find potential new treatments for the disease. One way that people with Fabry disease can help in this crucial work is by participating in clinical trials.

What are clinical trials?

Clinical trials are one of the most important steps in the approval process for new medications. They allow researchers to test a new medication, device, or other intervention in volunteers. The aim is to determine whether the treatment is safe, how well it works, and whether it is better than treatments that are already available. During a clinical trial, its researchers record any side effects that volunteers experience.

Regulatory agencies for public health, like the U.S. Food and Drug Administration (FDA), have to approve each clinical trial before it can begin, looking at points that include its design, measures used, and stated goal. Before testing moves to people, researchers have to show that a potential treatment was found to be generally safe and effective in an animal disease model, or other types of laboratory experiments.

What are the advantages of participating in trials?

Participating in a clinical trial has several potential benefits. You generally don’t have to pay for your medical treatment, or the medications that you are given during the trial. You also get access to potentially helpful treatments before they might be commercially available.

You also may receive some compensation for the time away from work, or for travel and lodging costs associated with participating.

What are the disadvantages of participation?

The biggest potential disadvantage of taking part in a clinical trial is that you are being given a medication or using a device that is not in wide or long term use in people. Every treatment can carry side effects, and they are not fully known in new and potential treatments. Researchers study side effects and drug properties carefully in the laboratory long before it moves to a clinical trial, but some side effects may not be predictable or known. In rare cases, these side effects can be serious and may require you to drop out of the trial.

Another potential downside is that not everyone participating in a trial may be given the experimental treatment. In a double-blind clinical trial, the researchers and physicians caring for patients randomly assign them to either the investigative treatment or a placebo. In this case, neither you nor they will know what you were using until the trial is complete. Researchers design this type of study to eliminate any bias that such knowledge may cause, and to more effectively judge how well the treatment does compared to its nonuse in a similar group of patients. People in open-label clinical trials, in contrast, are all treated with the investigative medicine or device. These studies are not blinded.

Am I eligible to be part of a clinical trial?

If you are interested in taking part in a clinical trial, talk with the doctor or healthcare team managing your treatment. Your doctor can help you find if clinical trials are taking place near you, whether you are eligible to participate in a given trial, and whether that trial is suited to you and your needs — whether the treatment being tested is likely to be effective in your case. You may need to undergo certain tests to confirm eligibility. Your doctor may be able to help you with these tests.

Here’s a current list of Fabry disease clinical trials recruiting or preparing to enroll people; these lists are available on the National Institutes of Health (NIH) Library website.


Last updated: June 5, 2020


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.