Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy. The investigators hypothesize that treatment of adults and children with XLH alone will improve serum phosphate levels and skeletal mineralization without causing an increase in kidney calcifications. The study will also examine if calcitriol therapy will improve growth in children.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
20
Adults and children (age 3-17) with X-linked hypophosphatemia will be treated with calcitriol therapy without phosphate supplementation. Doses of calcitriol will be escalated and optimized in the first three months of the study. Calcitriol is an oral medication taken once a day.
Massachusetts General Hospital
Boston, Massachusetts, United States
Change from baseline in serum phosphate in adults and children with XLH
Time frame: up to 12 months
Change from baseline in TmP/GFR in adults and children with XLH
a measure of kidney resorption of phosphate
Time frame: up to 12 months
Rickets score for children with XLH
a score of rickets severity determined by reading x-rays of wrists and knees (10 point Thacher score with 0 being normal and 10 being severe)
Time frame: up to 12 months
Change from baseline in nephrocalcinosis grade
determine if there is change in amount of calcifications in the kidneys: graded from grade 0 (normal) to grade IV (stone formation, solitary focus of echos at the tip of the renal pyramid)
Time frame: up to 12 months
Growth in children with XLH
Z-score of growth
Time frame: up to 12 months
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