Calcitriol Monotherapy for X-Linked Hypophosphatemia

Description

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.

Conditions

X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant

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Study Overview

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Study Details

Study overview

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.

Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal Parameters

Calcitriol Monotherapy for X-Linked Hypophosphatemia

Condition
X-linked Hypophosphatemia
Intervention / Treatment

-

Contacts and Locations

Boston

Massachusetts General Hospital, Boston, Massachusetts, United States, 02114

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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.

Ages Eligible for Study

3 Years to 70 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Massachusetts General Hospital,

Eva Liu, MD, PRINCIPAL_INVESTIGATOR, Massachusetts General Hospital and Brigham and Women's Hospital

Study Record Dates

2025-03