Significance of Clinical Trials for Pompe Disease

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by Mary Chapman |

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Clinical trials can help researchers develop new treatments for disorders such as Pompe disease, which currently has no cure and few options for treating symptoms. Through these trials, scientists gather evidence to support the potential regulatory approval of new and better therapies that may improve the quality of life for patients.

What are clinical trials?

Clinical trials are at the heart of medical advances. The goal is to determine whether a device, procedure, or drug is safe and effective. These studies also may test new ways of using existing treatments, assess other aspects of care, or simply record the progression of a disease over time — an observational study that can provide important data for researchers and clinicians.

Patients and healthy volunteers may enroll in clinical trials. The trials are controlled to ensure they are carried out as intended, and are regulated by law and require governmental approval before beginning. Researchers monitor all participants so that any issues or potential risks can be identified as soon as possible.

What is the aim of clinical trials?

A clinical trial is an experiment. Scientists who design the trial seek to gather enough scientific evidence — data that is clinically meaningful and reproducible — to support an application to a regulatory body for approval of what they are testing. In the U.S., scientists must submit all applications to the U.S. Food and Drug Administration for approval. The agency’s counterpart in Europe is the European Medicines Agency.

What are the different phases?

New treatments typically undergo three trial phases. In the first phase, a relatively small number of participants are drawn from the general population to test the proposed treatment for safety, tolerability, and other properties. Phase 2 involves testing the therapy in the intended patient population. Tests here are for safety and early evidence of effectiveness, and generally include a small number of patients. A Phase 3 trial is designed to show scientifically that the medicine, procedure, or device is of benefit for its target population. This phase usually requires a statistically valid and representative patient group, to minimize scientific bias.

Who can enroll?

Clinical studies have standards, called eligibility criteria, outlining who can participate. These are based on characteristics such as age, sex, the disease type and stage, the patient’s previous treatment history, and the presence of other medical conditions.

What are the potential benefits of enrolling?

By enrolling yourself or your child in a clinical trial, you may:

  • gain access to new treatments before they are widely available
  • receive regular and careful medical attention from a research team that includes physicians and other health professionals
  • help others by contributing to knowledge about new treatments or procedures

What are some questions to ask?

If you are considering enrolling in a Pompe disease clinical trial, you should feel free to ask any questions or broach any issues about the trial at any time. Make a list of your questions or concerns to ensure you get answers to them all. Remember that any new treatment being testing may have serious unforeseen side effects.

Some general questions you might want to ask include:

  • What is the purpose of the study?
  • Who will fund the study?
  • How long will the study last?
  • Who will inform me of the study results?
  • What are the possible benefits and risks?
  • What kinds of therapies, procedures, or tests will I (or my child) undergo?
  • Who will be in charge of my (or my child’s) care?

How do I enroll in a clinical trial?

Currently, Pompe disease clinical trials are underway at universities and medical centers globally to assess potential new therapies. They are listed online at, a database of privately and publicly funded trials around the world.

Each study summary provides a list of clinic locations, and whether the trial is still recruiting. To participate in a study, contact the clinical trial coordinator of the participating institution.


Last updated: Aug. 18, 2020


Pompe 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.