Status:

ACTIVE_NOT_RECRUITING

Calcitriol Monotherapy for X-Linked Hypophosphatemia

Lead Sponsor:

Massachusetts General Hospital

Collaborating Sponsors:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Conditions:

X-linked Hypophosphatemia

Hypophosphatemic Rickets

Eligibility:

All Genders

3-70 years

Phase:

EARLY_PHASE1

Brief Summary

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 mon...

Eligibility Criteria

Inclusion

  • 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

  • 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.

Key Trial Info

Start Date :

March 28 2019

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

May 1 2026

Estimated Enrollment :

20 Patients enrolled

Trial Details

Trial ID

NCT03748966

Start Date

March 28 2019

End Date

May 1 2026

Last Update

October 1 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Massachusetts General Hospital

Boston, Massachusetts, United States, 02114