Status:
COMPLETED
Characterising Pain, QoL, Body Composition, Arterial Stiffness, Muscles and Bones in Adult Persons With XLH and Healthy Controls
Lead Sponsor:
University of Aarhus
Conditions:
X-linked Hypophosphatemia
Hereditary Hypophosphatemia
Eligibility:
All Genders
18+ years
Brief Summary
Hereditary hypophosphatemia (XLH) is a rare, inherited disease. Loss-of-function mutation in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) results in exces...
Detailed Description
Hereditary hypophosphatemia (XLH) is a rare, inherited disease. Loss-of-function mutation in PHEX results in excess fibroblast growth factor 23 (FGF23) production and manifests as rickets in children ...
Eligibility Criteria
Inclusion
- Understand oral and written Danish
- Able to consent
- For XLH only:
- genetically verified XLH by detection of a disease-causing mutation in PHEX or a positive family history of X-linked hypophosphatemia.
- biochemically verified hereditary hypophosphatemia: serum PO4 below normal range and low TmPO4/GFR, and/or elevated serum FGF23 and a history of childhood rickets or spontaneous endodontic abscesses to exclude acquired hypophosphatemia, e.g., tumor-induced osteomalacia.
Exclusion
- P-25OHD \< 25 mmol/L\*
- Severe co-morbidities, which in the opinion of the investigator may have major impact on study outcomes. This may include, but is not limited to o poorly controlled hyperthyroidism o Paget disease
- o type 1 diabetes mellitus or poorly controlled type 2 diabetes mellitus
- o severe and chronic cardiac, liver, or renal disease
- o Cushing syndrome
- o Rheumatoid arthritis
- o Active pancreatitis
- o Malnutrition
- o Recent prolonged immobility\*
- o Active malignancy (including myeloma)
- Treatment with
- o Burosumab
- Beta-blockers
- Oral steroids
- For controls only:
- disturbances in the calcium or phosphate homeostasis
- participants with low 25OHD levels or recent immobility may be re-screened for participations 6 months after this has been corrected
Key Trial Info
Start Date :
February 18 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
December 20 2022
Estimated Enrollment :
92 Patients enrolled
Trial Details
Trial ID
NCT04273490
Start Date
February 18 2020
End Date
December 20 2022
Last Update
November 29 2023
Active Locations (1)
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1
Dept. of Endocrinology and Internal Medicine, The Osteoporosis Clinic
Aarhus N, Denmark, 8200