Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters
试验速览
- 阶段
- 早期 1 期
- 状态
- 已完成
- 入组人数
- 16
- 试验地点
- 2
- 主要终点
- Change from baseline in serum phosphate in adults and children with XLH
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 70 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Clinical diagnosis of XLH with family history excluding male-to-male transmission, or positive genotype for PHEX mutation
- •Serum PTH levels less than 1.5x the upper limit of normal
- •Serum calcium levels less than 10.0 mg/dl
- •eGFR >= 60 mL/min/1.73m2
- •25(OH) vitamin D level >= 20 ng/dL
排除标准
- •Known allergy to calcitriol
- •Pregnancy or breast feeding
- •Use of skeletally active agents such as bisphosphonates, teriparatide, SERMS, hormone replacement therapy and progesterone-only contraceptive agents (combination oral contraceptive use in premenopausal women is not an exclusion criterion).
- •Unwilling or unable to stop therapy with calcitriol and phosphate therapy for two weeks prior to study
- •Therapy with cinacalcet within the past two weeks
- •Current use of growth hormone therapy
- •Use of diuretics or medications that alter renal handling of mineral ions.
- •Use of glucocorticoids for more than 14 days in the past 12 months with the exception of inhaled agents.
- •History of malignancy except basal and squamous cell carcinoma of the skin.
- •Significant history of psychiatric disease per DSM-
- •Substance use disorder per DSM-
- •Significant cardiopulmonary disease (unstable CAD or stage D ACC/AHA heart failure).
- •Absence of laboratory values for serum calcium, phosphate and creatinine in the 24 months prior to enrollment.
研究组 & 干预措施
Adults with XLH
Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year
干预措施: Calcitriol (Drug)
Children with XLH
Children (age 3-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year
干预措施: Calcitriol (Drug)
结局指标
主要结局
Change from baseline in serum phosphate in adults and children with XLH
时间窗: up to 12 months
Change from baseline in nephrocalcinosis grade
时间窗: up to 12 months
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)
Change from baseline in TmP/GFR in adults and children with XLH
时间窗: up to 12 months
a measure of kidney resorption of phosphate
Rickets score for children with XLH
时间窗: up to 12 months
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)
次要结局
- Growth in children with XLH(up to 12 months)
研究者
Eva Liu
Assistant Professor of Medicine
Massachusetts General Hospital