Calcitriol Monotherapy for X-Linked Hypophosphatemia

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

Sponsors

Lead Sponsor: Massachusetts General Hospital

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

Source Massachusetts General Hospital
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 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.

Overall Status Recruiting
Start Date 2019-03-28
Completion Date 2022-03-01
Primary Completion Date 2021-10-01
Phase Early Phase 1
Study Type Interventional
Primary Outcome
Measure Time Frame
Change from baseline in serum phosphate in adults and children with XLH up to 12 months
Change from baseline in TmP/GFR in adults and children with XLH up to 12 months
Rickets score for children with XLH up to 12 months
Change from baseline in nephrocalcinosis grade up to 12 months
Secondary Outcome
Measure Time Frame
Growth in children with XLH up to 12 months
Enrollment 20
Condition
Intervention

Intervention Type: Drug

Intervention Name: Calcitriol

Description: Adults and children (age 6-17) with X-linked hypophosphatemia will be treated with calcitriol therapy without phosphate supplementation. Doses of calcitriol will be escalated and optimized in the first three months of the study. Calcitriol is an oral medication taken once a day.

Other Name: 1,25 dihydroxyvitamin D

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.

Gender:

All

Minimum Age:

6 Years

Maximum Age:

70 Years

Healthy Volunteers:

No

Overall Official
Last Name Role Affiliation
Eva Liu, MD Principal Investigator Massachusetts General Hospital and Brigham and Women's Hospital
Overall Contact

Last Name: Eva S Liu, MD

Phone: 16175255412

Email: [email protected]

Location
Facility: Status: Contact: Contact Backup: Massachusetts General Hospital Eva Liu, MD 617-525-5412 [email protected]
Location Countries

United States

Verification Date

2020-08-01

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Massachusetts General Hospital

Investigator Full Name: Eva Liu

Investigator Title: Assistant Professor of Medicine

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Adults with XLH

Type: Experimental

Description: Adults with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year

Label: Children with XLH

Type: Experimental

Description: Children (age 6-17) with X-linked hypophosphatemia will be treated with optimized doses of calcitriol (without phosphate supplementation) for one year

Patient Data No
Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Intervention Model Description: Adults or children (age 6-17) with X-linked hypophosphatemia (XLH) will be enrolled the study. All research subjects will be treated with optimized doses of calcitriol alone (without phosphate supplementation) for one year.

Primary Purpose: Treatment

Masking: None (Open Label)

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