Calcitriol Monotherapy for X-Linked Hypophosphatemia

Launched by MASSACHUSETTS GENERAL HOSPITAL · Nov 20, 2018

Keywords

ClinConnect Summary

This clinical trial is studying the effects of a medication called calcitriol on people with X-Linked Hypophosphatemia (XLH), a condition that affects how the body manages phosphate, which is important for bone health. The trial is open to both children and adults who have been diagnosed with XLH and meet certain health criteria. Participants will take calcitriol alone for one year, and the dose will gradually increase during the first three months. Researchers want to see if this treatment can improve phosphate levels and strengthen bones without causing issues like kidney calcifications. They are also looking into whether calcitriol can help children grow better.

To be eligible for this trial, participants should have a confirmed diagnosis of XLH, certain levels of parathyroid hormone and calcium in their blood, and good kidney function. However, people who are pregnant, breastfeeding, or taking certain medications may not be able to join. Throughout the study, participants will receive regular check-ups to monitor their health and the effects of the treatment. This research aims to find a safe and effective way to manage XLH, and the findings could help improve treatment options for future patients.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 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
• Exclusion Criteria:
• • 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.