Clinical Trials and Sanfilippo Syndrome

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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Patients with rare diseases like Sanfilippo syndrome can help with research into treatments for the disease by participating in clinical trials.

They may also have access to new treatments being developed, which would otherwise not be available to them.

What are clinical trials?

Clinical trials are research studies performed on people to determine whether a medical, surgical, or behavioral intervention is safe and effective. They are the primary way that researchers decide whether an investigative treatments works, and is better than what may already be available.

Clinical trials also help to determine what side effects and interactions may accompany the use of an investigative treatment.

The U.S. Food and Drug Administration (FDA) has to approve the design of clinical trials before they can begin. In order for that to happen, researchers usually first test the potential medication or therapy in animals, particularly an animal model of the disease being studied.

If these preclinical tests are favorable, the FDA may approve a clinical trial in people.

What are some advantages of participating in clinical trials?

Patients may be able to try medications that are not yet otherwise available, and do so at no cost.

Clinical trials generally cover all medical costs of participation, including the treatment. Many also cover charges associated with taking part, like travel to and from a trial site.

What are some potential disadvantages?

Not all people in a clinical trial are treated with the medicine, device, or intervention being studied. Depending on trial’s design, researchers may randomly assign a group of enrolled patients to a placebo or to standard care for their disease instead of the investigative treatment. Researchers do this to determine, for example, whether the new treatment is better than standard of care or no care at all.

Both the patients and the researchers in the study are usually “blind” to the treatment groups, meaning that neither know who is getting the new treatment until the trial is complete.

The biggest downside for many patients is potential side effects of a treatment that is not yet approved and in wide use. Until an investigative treatment goes through repeat clinical trials, researchers cannot know with certainty what, if any, adverse effects it might have, beyond what animal and lab studies have shown. In some unusual cases, these side effects can be dangerous. They can also cause unexpected discomfort that may require a person withdraw from a study.

How can I find out if I’m eligible for a clinical trial?

Talk to the doctor treating your Sanfilippo syndrome. Your doctor can determine whether you are eligible to participate in a clinical trial, and can also counsel you as to whether a potential treatment is likely to be effective in your case.

Here is a current list of Sanfilippo syndrome clinical trials that are recruiting or preparing to recruit people; you can also check on the National Institute of Health (NIH) Library website.


Last updated: May 10, 2020


Sanfilippo Syndrome 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.