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.

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



Kirin Trial

A clinical trial is being conducted at several research centers to determine if an investigational agent from Kyowa Hakko Kirin Pharma, Inc. improves the health of adult patients by alleviating the complications associated with XLH.

Eligible participants will be provided study treatment at no charge and may receive compensation for their involvement.  To be eligible for this study you must:

Be at least 18 years of age;

Have been diagnosed with XLH; and

Agree not to change diet or exercise routine for the duration of the study.

Phase I is a double-blind, randomized, placebo-controlled, single-dose, dose-escalation study of KRN23 in X-linked Hypophosphatemia. This first phase is intended to assess the safety and tolerability of KRN23 after a single intravenous or subcutaneous administration in XLH patients.

Phase II is a non-randomized, open-label study intended to assess the safety and efficacy of repeated doses of KRN23 administered subcutaneously in adult subjects with X-Linked Hypophosphatemia (XLH).

Contact any of the participating study centers below for further information.



United States, California

University of California, San Francisco Medical Center


San Francisco, California, United States, 94143

Contact: Stephanie Lamp                 415-476-9657     

Principal Investigator: Anthony A Portale, MD  



United States, Connecticut

Yale University School of Medicine


New Haven, Connecticut, United States, 06520

Contact: Elizabeth Olear, MS, MA                 203-785-3759     

Contact: Rebecca Sullivan, MS, RD                 203-737-1656     

Principal Investigator: Thomas O. Carpenter, M.D.  



United States, Indiana

Clinical Research Center, Indiana University School of Medicine


Indianapolis, Indiana, United States, 46202-5250

Contact: Connie Sullivan, RN, CCRC                 317-944-8431     

Principal Investigator: Munro Peacock, MB  



United States, North Carolina

Duke Clinical Research Unit


Durham, North Carolina, United States, 27710

Contact: Margaret Stewart, RN                 919-668-0186     

Principal Investigator: Thomas J. Weber, MD



United States, Texas

University of Texas Health Science Center at Houston


Houston, Texas, United States, 77030

Contact: Mary D. Ruppe, MD                 713-500-6901     

Principal Investigator: Mary D. Ruppe, MD  



Canada, Quebec

Shriners Hospital for Children - Canada


1529 Cedar, Montréal, Quebec, Canada, H3G 1A6

Contact: Michaela Durigova, PhD                 514-282-7158     

Principal Investigator: Francis H. Glorieux, OC, MD, PhD



You can also find information about this clinical trial by going to and searching for "KRN23". Before deciding to participate in a research study, you may want to go to and read "Understanding Clinical Trials". As always it is a good idea to confer with your doctor and/or health care professionals before entering a trial.


Last modified Apr 2, 2014

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