Clinical Trials for Porphyria

There’s currently no cure for porphyria, and only a few therapy options are available to treat the symptoms of this group of rare inherited blood disorders. None of them address the cause of the underlying disease.

Participating in clinical trials is a way to help researchers develop new and better therapies.

What are clinical trials?

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

Both people with the disease and healthy volunteers, known as controls, may be enrolled in clinical trials. The trials are controlled to ensure they are carried out as intended, and all participants are monitored so that any issue or potential risk is identified as soon as possible. All clinical trials are regulated by law and require governmental approval before they can begin.

Is it an experiment?

Yes. Scientists who design the trial aim to gather enough scientific evidence — evidence that is clinically meaningful and reproducible — to support an application to a regulatory body for approval of what is being tested. In the U.S., all applications are submitted to the Food and Drug Administration, commonly known as the FDA, for approval.

It is important to remember that a new treatment that researchers are testing may have serious side effects that cannot be foreseen.

What are the different phases of clinical trials?

New medications typically undergo three trial “phases.” In the first phase, a relativity 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 medication 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 aims to show scientifically that the medicine 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 in clinical trials?

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

What are the potential benefits?

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

• 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

Questions to ask

If you are considering registering in a porphyria trial, you should feel free to ask any questions or broach any issues concerning the trial at any time. Make a list of your questions or concerns, so you are sure to address all of them.

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 (child’s) care?

Porphyria clinical trials

Advances in the understanding of the molecular bases and pathogenesis — how a disease begins or develops — of porphyrias have paved the way for the development of new therapeutic strategies.

As such, a number of porphyria clinical trials are taking place at universities and medical centers globally. Each study summary provides a list of where it’s being run, and whether the trial is recruiting. To participate in a study, it’s often necessary to contact the study coordinator of the participating institution.

You may find a list of current porphyria studies on the website of the U.S. National Library of Medicine.

The American Porphyria Foundation also can help keep you apprised of current research needs and opportunities.

Last updated: June 23, 2020

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Porphyria 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.