X-linked Hypophosphatemia Disease Monitoring Program
1 other identifier
observational
782
6 countries
38
Brief Summary
The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2018
Longer than P75 for all trials
38 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 16, 2018
CompletedFirst Submitted
Initial submission to the registry
August 24, 2018
CompletedFirst Posted
Study publicly available on registry
August 29, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2032
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 1, 2032
February 17, 2026
February 1, 2026
14.4 years
August 24, 2018
February 12, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Long-Term Safety of Burosumab
To assess the long-term safety of burosumab treatment in adult and pediatric patients with XLH, including overall renal health, the presence and/or progression of nephrocalcinosis and spinal stenosis, and pregnancy outcomes.
10 years
Long-Term Effectiveness of Burosumab
To evaluate the long-term effectiveness of burosumab treatment on key manifestations of XLH, including skeletal health, stiffness, mobility and physical functioning.
10 years
Clinical Course of XLH Disease
To illustrate the clinical, radiological, biochemical manifestations and progression of XLH over time in both untreated and treated patients with XLH.
10 years
Study Arms (2)
Prior Burosumab Clinical Trial Participants
Patients who participated in burosumab clinical trials and continue to receive burosumab via prescription from their physician.
Not from Prior Burosumab Clinical Trial
Patients may take other treatments for XLH and may start burosumab treatment at any time as prescribed by a physician.
Interventions
Access to any treatment is through authorized commercial use and not as a part of this DMP
Eligibility Criteria
Approximately 800 eligible adult and pediatric patients with XLH will be enrolled globally, with a minimum of 200 pediatric patients. Patients can enter the XLH-DMP regardless of how their XLH is being treated. Patients on Crysvita (burosumab) via prescription may begin taking Crysvita, per standard of care before or after enrolling in the XLH DMP.
You may qualify if:
- Willing and able to provide informed consent or, in the case of patients under the age of 18 years (or 16 years, depending on the region), provide assent (if required) and informed consent by a legally authorized representative after the nature of the study has been explained, and prior to any research-related procedures.
- Clinical diagnosis of XLH based on family history, OR confirmed PHEX mutation, OR biochemical profile consistent with XLH.
- Willing and able to comply with the study visit schedule and study procedures.
You may not qualify if:
- Concurrent enrollment in an Ultragenyx-sponsored clinical trial is NOT permitted.
- Serious medical or psychiatric comorbidity.
- Less than one year of life expectancy.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Ultragenyx Pharmaceutical Inclead
- Kyowa Kirin Co., Ltd.collaborator
Study Sites (38)
Children's Hospital of Alabama
Birmingham, Alabama, 35233, United States
Children's Hospital Los Angeles
Los Angeles, California, 90027, United States
Rady Children's Hospital San Diego
San Diego, California, 92123, United States
University of California San Francisco
San Francisco, California, 94158, United States
Children's Hospital of Colorado
Aurora, Colorado, 80045, United States
Yale University School of Medicine
New Haven, Connecticut, 06520, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611, United States
Indiana University School of Medicine
Indianapolis, Indiana, 46202-5167, United States
Johns Hopkins University
Baltimore, Maryland, 21218, United States
Boston Children's Hospital
Boston, Massachusetts, 02115, United States
Washington University School of Medicine
St Louis, Missouri, 63110, United States
Duke University
Durham, North Carolina, 27708, United States
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229, United States
Nationwide Children's Hospital
Columbus, Ohio, 43205, United States
The Ohio State University Wexner Medical Center
Columbus, Ohio, 43205, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Vanderbilt University - Department of Medicine
Nashville, Tennessee, 37212, United States
Vanderbilt University - Department of Pediatrics
Nashville, Tennessee, 37232, United States
Houston Methodist Research Institute
Houston, Texas, 77030, United States
University of Texas, Health Science Center
Houston, Texas, 77030, United States
University of Virgina School of Medicine
Charlottesville, Virginia, 22903, United States
Children's Hospital of The King's Daughter
Norfolk, Virginia, 23507, United States
Seattle Children's Hospital
Seattle, Washington, 98105, United States
American Family Children's Hospital
Madison, Wisconsin, 53792, United States
Hospital General de Niños Pedro de Elizalde
Buenos Aires, Buenos Aires F.D., C1270AAN, Argentina
Hospital de Niños Dr. Ricardo Gutierrez
Buenos Aires, C1425EFD, Argentina
Hospital Privado Universitario de Córdoba
Córdoba, Argentina
Hospital Universitário Alcides Carneiro (HUAC)
São José, Campina Grande - PB, 58400-398, Brazil
Instituto de Medicina Avancada (IMA Brasil)
São Paulo, São Paulo, 05437-000, Brazil
CETI - Centro de Estudos em Terapias Inovadoras
Curitiba, 80030-110, Brazil
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
São Paulo, 05403-000, Brazil
British Columbia Children's Hospital
Vancouver, British Columbia, V6H 3N1, Canada
Bone Research and Education Centre
Oakville, Ontario, ON L6M 1M1, Canada
Shiner's Hospital for Children - Canada
Montreal, Quebec, H4A 0A9, Canada
Children's Hospital Eastern Ontario Research Institute
Ottawa, K1H 5B2, Canada
Pontificia Universidad Católica de Chile
Santiago, Santiago Metropolitan, Chile
Hospital Universitario de San Vicente Fundación
Medellín, Antioquia, Colombia
Hospital Infantil Universitario de San José
Bogotá, Cundinamarca, Colombia
Related Publications (1)
Carpenter TO, Fukumoto S, Haffner D, Imel EA, Ozono K, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Brandi ML. Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program. Bone. 2025 Dec;201:117649. doi: 10.1016/j.bone.2025.117649. Epub 2025 Sep 15.
PMID: 40962182DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Ultragenyx Medical Director
Ultragenyx Pharmaceuticals Inc.
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
August 24, 2018
First Posted
August 29, 2018
Study Start
July 16, 2018
Primary Completion (Estimated)
December 1, 2032
Study Completion (Estimated)
December 1, 2032
Last Updated
February 17, 2026
Record last verified: 2026-02