RECRUITING

Calcitriol Monotherapy for X-Linked Hypophosphatemia

Conditions

X-linked Hypophosphatemia Hypophosphatemic Rickets Hypophosphatemic Rickets, X-Linked Dominant XLH calcitriol rickets 1,25 dihydroxyvitamin D bone disorder rare bone disease vitamin D

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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.

Official Title

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

Quick Facts

Study Start:2019-03-28

Study Completion:2025-03

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT03748966

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.

Ages Eligible for Study:3 Years to 70 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Study Contact

Eva S Liu, MD

CONTACT

16175255412

esliu@bwh.harvard.edu

Marie Demay, MD

CONTACT

16177263273

demay@helix.mgh.harvard.edu

Principal Investigator

Eva Liu, MD

PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital and Brigham and Women's Hospital

Study Locations (Sites)

Massachusetts General Hospital

Boston, Massachusetts, 02114

United States

Collaborators and Investigators

Sponsor: Massachusetts General Hospital

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2019-03-28

Study Completion Date2025-03

Study Record Updates

Study Start Date2019-03-28

Study Completion Date2025-03

Terms related to this study

Keywords Provided by Researchers

XLH
calcitriol
x-linked hypophosphatemia
rickets
1,25 dihydroxyvitamin D
bone disorder
rare bone disease
vitamin D
hypophosphatemic rickets

Additional Relevant MeSH Terms

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