Rare Diseases, X-linked Hypophosphatemia
Conditions
Keywords
X-linked hypophosphataemia, fibroblast growth factor 23, burosumab, hyperparathyroidism
Brief summary
In this prospective longitudinal cohort study we studied the efficacy and safety of burosumab in real-clinical practice for \<13- and \>13-years old children affected with X-linked hypophosphatemia. 57 children with XLH were switched from conventional treatment to burosumab. After 12 months we assessed the efficacy and safety of treatment with burosumab on the whole cohort and separately on the cohort of \>13-years old adolescents.
Interventions
DRUGBurosumab Injection
Children affected with X-linked hypophosphatemia were switched from conventional therapy to burosumab
Sponsors
Bicetre Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Years to 20 Years
Healthy volunteers
No
Inclusion criteria
* insufficient response or refractory to conventional therapy; * complications of conventional therapy: hypercalciuria and/or nephrocalcinosis, and/or persistent secondary hyperparathyroidism; * need for rapid restoration of phosphate metabolism, e.g., late diagnosis (aged \>8 years) and/or preparation for planned orthopaedic surgery.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Radiological changes in rachitic lesions evaluated with knee MRI | 12 months | maximum width of the physis and transverse extent of widening |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| incidence of hyperparathyroidism | 12 months | blood levels of parathyroid hormone |
| serum phosphate | 12 months | mmol/l |
| renal phosphate reabsorption | 12 months | mmol/l |
| alkaline phosphatase | 12 months | U/l |
| 1,25(OH)vitaminD | 12 months | pg/ml |
| parathyroid hormone | 12 months | ng/l |
| incidence of any side effects | 12 months | registration of any side effects during the treatment by telephone call |
| functional capacity | 12 months | 6-minute walk test, standard deviation score |
| incidence of dental abcesses | 12 months | dental examination |
| incidence of hearing problems | 12 months | ORL examination, audiogramm |
| incidence of neurological problems (craniosynostosis, Chiari I malformation) | 12 months | neurosurgical examination and brain MRI |
| incidence of nephrocalcinosis | 12 months | renal ultrasound |
| height | 12 months | standard deviation score |
Countries
France
Outcome results
None listed