Saves the questions and what to expect into your notes, next to the visit they belong to.
Keep this study
Lead
Massachusetts General Hospital
With
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Age
3–70
Sex
ALL
Healthy volunteers
Not accepted
You may be eligible if
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
You may not be if
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-5.
Substance use disorder per DSM-5.
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.
