X-linked Hypophosphatemia Disease Monitoring Program

The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

X-linked Hypophosphatemia Avitaminosis Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deficiency Diseases Familial Hypophosphatemic Rickets Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hypophosphatemia Hypophosphatemia, Familial Hypophosphatemic Rickets Kidney Diseases Male Urogenital Diseases Malnutrition Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Musculoskeletal Diseases Nutrition Disorders Nutritional and Metabolic Diseases Phosphorus Metabolism Disorders Renal Tubular Transport, Inborn Errors Rickets Rickets, Hypophosphatemic Urogenital Diseases Urologic Diseases Vitamin D Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital General de Niños Pedro de Elizalde, Buenos Aires, Buenos Aires F.D., Argentina

About this study

The XLH-DMP is a global, prospective, multicenter, longitudinal, long-term outcomes program for subjects on or off any treatment designed to characterize XLH disease presentation and progression, assess long-term safety and effectiveness of burosumab, as well as prospectively investigate longitudinal change over time across biomarker(s), clinical assessments, and patient/caregiver-reported outcome measures in a representative population. The XLH-DMP will collect demographic, biochemical, physiologic, disease severity, and progression data in patients taking burosumab and those not taking burosumab. In this DMP, patients will only have access to burosumab through authorized prescribed use. The Sponsor will not provide any treatments as part of the DMP.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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.

Exclusion criteria

Concurrent enrollment in an Ultragenyx-sponsored clinical trial is NOT permitted.
Serious medical or psychiatric comorbidity.
Less than one year of life expectancy.

Treatment and study plan

No intervention

Other

Access to any treatment is through authorized commercial use and not as a part of this DMP

Primary outcomes

Long-Term Safety of Burosumab

Time frame: 10 years

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.
Long-Term Effectiveness of Burosumab

Time frame: 10 years

To evaluate the long-term effectiveness of burosumab treatment on key manifestations of XLH, including skeletal health, stiffness, mobility and physical functioning.
Clinical Course of XLH Disease

Time frame: 10 years

To illustrate the clinical, radiological, biochemical manifestations and progression of XLH over time in both untreated and treated patients with XLH.

Sponsors and collaborators

Lead sponsor

Ultragenyx Pharmaceutical Inc

Industry

Collaborators

Kyowa Kirin Co., Ltd.

Registry information

Official study title

X-linked Hypophosphatemia Disease Monitoring Program (XLH-DMP)

Important dates

Study start: 2018
Primary completion: 2032
Study completion: 2032
First posted: Aug 29, 2018
Registry last updated: May 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed