Clinical Trials for XLH

Clinical Trials for XLH

There currently is no cure for X-linked hypophosphatemia (XLH) and not many options for treating the disease’s symptoms. That’s why clinical trials are so important as scientists work to develop new and better therapies.

What are clinical trials?

Clinical trials are at the heart of all medical advances. The goal of clinical trials is to determine whether a device, procedure, or pharmaceutical therapy  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.

Both people with the disease and healthy volunteers may enroll in clinical trials. The trials are controlled to ensure they are carried out as intended. Researchers monitor all participants so they can identify any issues or potential risks as soon as possible. All clinical trials are regulated by law and require governmental approval before beginning.

Is it an experiment?

A clinical trial is an experiment. Scientists who design the trial seek to gather enough scientific evidence — evidence 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 (FDA) for approval. The FDA’s counterpart in Europe is the European Medicines Agency.

It is important to know that a new treatment 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 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 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 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 in clinical trials?

Clinical studies have standards, called eligibility criteria, outlining who can participate. These are based on characteristics such as age, sex, 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 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.

Questions to ask

If you are considering registering in an XLH 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 (or my child’s) care?

XLH clinical trials

Conventional XLH treatment for some 50 years had been oral phosphate supplements and active vitamin D, and also orthopedic surgery to correct bone deformities.

Crysvita (burosumab) is a recently approved therapy that targets the XLH’s primary pathology. However, it cannot reverse structural problems such as malformed teeth and bones. In addition, there is a lack of knowledge about the effects of long-term treatment.

As such, dozens of XLH clinical trials are underway at universities and medical centers globally. Several of them include burosumab.

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

The XLH Network also can help keep you apprised of current research needs and opportunities.


Last updated: June 26, 2020


XLH News Today 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 providers 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.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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