Clinical Trials

The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation and protocol, and discuss the pros and cons of their participation with trusted advisers, including their health care providers and family members. The NIH website ( offers some good questions to consider while deciding whether to enroll in a clinical trial.

Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)

Click here for more information at

Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)

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Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)

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Study of Joint Replacement in Individuals with X-Linked Hypophosphatemia

Online questionnaire for men and women aged 18 or older with X-linked hypophosphatemia (XLH) who have had a hip or knee replacement. The purpose of this questionnaire is to learn more about joint replacements in patients with XLH. With the information gathered, we will be able to educate clinicians about joint replacements in patients with XLH.

Compensation is offered for eligible participants by way of a Starbucks gift card.

Study HIC#: 6316

Principal Investigator:

Dr. Carolyn M. Macica

Contact Information:

Ultragenyx Online Survey

Ultragenyx Pharmaceutical, Inc. is sponsoring a research study to better understand how XLH impacts the lives of affected children and adults.  The study consists of an online survey that asks questions about your experience with XLH, including how it was diagnosed, what symptoms and complications you (or your child) have experienced, how the disease has been managed and how these events affect your daily life.  Anyone interested in participating should click here to learn more about the study.

Study of KRN23, a Humanized Anti-FGF23 Monoclonal Antibody, in Pediatric Subjects With X-linked Hypophosphatemia (XLH)

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Shriners Hospital for Children - A study to learn about XLH and HPP during adult life.

Click here for additional information.

NIH Research Study

NIH Research Study: Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-mediated Hypophosphatemia

Principal Investigator: Dr. Rachel Gafni, MD

Sponsoring Institute: Craniofacial and Skeletal Diseases Branch, NIDCR, National Institutes of Health

Link at

The purpose of this study is to see how treatment with a drug called cinacalcet affects people with low blood phosphorus (hypophosphatemia) caused by hypophosphatemic rickets or tumor-induced osteomalacia.  Studies have suggested that cinacalcet may decrease phosphorus loss by the kidneys in these disorders.  If the cinacalcet works, the blood level of phosphorus may be higher.  This could result in patients needing less phosphorus medication.  It may also help the bones become stronger.  

This study will help us figure out the best dose of cinacalcet and how many times a day it should be taken.   Individuals who qualify for the study will take cinacalcet in addition to vitamin D and phosphorus.   All study visits will be at the NIH Clinical Center in Bethesda, Maryland.  There will be up to 3 inpatient visits and several outpatient clinic and lab visits. Once cinacalcet therapy is started, there will be 3 - 5 visits with a physician every 3 weeks over a 4- to 7-month period.  During the NIH visits, participants will undergo several assessments, which may include a dental evaluation, blood tests, urine tests, x-rays, and questionnaires.  Patients will be paid for participation in this study.  You may be eligible if you are between 18 and 70 years of age and have been diagnosed with low blood phosphorus.  For more information, please contact the NIH Patient Recruitment and Public Liaison hotline at 1-800-411-1222 or


Use of Nasal Calcitonin to Supress FGF23 in X-linked Hypophosphatemia

Yale is currently seeking participants for a new study researching the "Use of Nasal Calcitonin to Supress FGF23 in X-linked Hypophosphatemia".   Please see the flyer below for details.  In case this is hard to read the contacts are:

Link at

Rebecca Sullivan  (203)-737-1656


© 2011, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers to a mailing list and/or members of a forum for The XLH Network Inc. A listing of XLH research is available. Please read our full disclaimer

Last modified Jul 28, 2016

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