Hypophosphatemic Rickets, X-linked Hypophosphatemia
Conditions
Keywords
X-linked Hypophosphatemia, Fibroblast growth factor 23 (FGF23), KRN23, XLH, Hypophosphatemia, Familial Hypophosphatemic Rickets, FGF23, Crysvita
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.
Detailed description
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.
Interventions
OTHERNo intervention
Access to any treatment is through authorized commercial use and not as a part of this DMP
Sponsors
Ultragenyx Pharmaceutical Inc
Kyowa Kirin Co., Ltd.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Long-Term Safety of Burosumab | 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 | 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 | 10 years | To illustrate the clinical, radiological, biochemical manifestations and progression of XLH over time in both untreated and treated patients with XLH. |
Countries
Argentina, Brazil, Canada, Chile, Colombia, United States
Contacts
STUDY_DIRECTORUltragenyx Medical Director
Ultragenyx Pharmaceuticals Inc.
Outcome results
None listed