Evidence map›Paper›PMID 41137448›Full record

Trial reportThe Journal of clinical endocrinology and metabolism2026

Treatment of Children and Adults With X-Linked Hypophosphatemia With Calcitriol Alone: A Prospective, Open-Label Study.

Deborah Mitchell, Mackenzie Jordan, Sarah Gehman, Sara Rudolph, Harald Jüppner, Madhusmita Misra, Thomas Thacher, Hang Lee, Michael S Gee, Theodore Pierce and 4 more

Abstract readClinical Trial
In one paragraph

Trial report in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Deborah MitchellEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Mackenzie JordanEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Sarah GehmanEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Sara RudolphEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Harald JüppnerEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Madhusmita MisraDepartment of Pediatrics, University of Virginia, Charlottesville, VA 22903, USA.
Thomas ThacherDepartment of Family Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Hang LeeHarvard Medical School, Boston, MA 02115, USA.ORCID 0000-0002-3498-236X
Michael S GeeHarvard Medical School, Boston, MA 02115, USA.
Theodore PierceHarvard Medical School, Boston, MA 02115, USA.
Lisa CegliaDivision of Endocrinology, Tufts Medical Center, Boston, MA 02111, USA.ORCID 0000-0003-0023-3640
Mary L BouxseinEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Marie B DemayEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
Eva S LiuEndocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.ORCID 0000-0003-2630-6916

Funding

Translational Imaging and Phenotyping CoreP30AR075042 · NIAMS · MASSACHUSETTS GENERAL HOSPITAL · PI MARY L BOUXSEIN, PAOLA DIVIETI PAJEVIC · 2019 to 2026
$7.4M
Development of enthesopathy in the mouse model of X-linked hypophosphatemia (XLH)R01AR076973 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Eva S. Liu · 2021 to 2026
$2.4M
Determinants of bone microarchitectural compromise in youth with type 1 diabetesR01DK122581 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI BOUXSEIN, MARY L, MISRA, MADHUSMITA · 2019 to 2023
$2.0M
Optimizing Calcitriol Monotherapy for X-Linked Hypophosphatemia: Effects on Mineral Ions, Growth and Skeletal ParametersR21AR072351 · NIAMS · MASSACHUSETTS GENERAL HOSPITAL · PI DEMAY, MARIE · 2018 to 2020
$593k
XtremeCT II High Resolution Peripheral Computed Tomography DeviceS10OD025248 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI BOUXSEIN, MARY L · 2019 to 2019
$445k
NIAMS NIH HHS R01 AR076973NIDDK NIH HHS P30 AR075042NIDDK NIH HHS R01 DK122581NIDDK NIH HHS S10 OD025248NIH HHS R01 AR076973NIH HHS R21 AR072351the National Institute of Arthritis and Musculoskeletal and Skin Diseases
6 · The paper itself

Abstract

contextPreclinical studies demonstrate that treatment with calcitriol attenuates skeletal complications in mice with X-linked hypophosphatemia (XLH).

objectiveThis work aimed to assess serum markers of mineral metabolism, nephrocalcinosis, skeletal microarchitecture, growth, and evidence of rickets following calcitriol monotherapy in children and adults with XLH.

methodsA 1-year, prospective, single-arm, open-label study was conducted comparing baseline and 12-month outcomes. Participants were recruited from outpatient endocrinology clinics in the United States. Data were collected in a research unit. Eligible participants were aged 4 years or older, not pregnant, with baseline 25-hydroxyvitamin D of 20 ng/mL or greater and normal serum calcium. Participants were treated with calcitriol, with dose based on serum and urinary calcium concentrations, for 1 year. The primary end points were change in serum phosphate and nephrocalcinosis (all participants) and rickets severity score (children). Secondary end points included changes in additional markers of mineral metabolism, skeletal microarchitecture parameters via high-resolution peripheral quantitative computed tomography (all participants), and height z-scores (children).

resultsSerum phosphate did not change over 12 months of optimized calcitriol treatment. Rickets improved in 2 of 4 children with open epiphyses; height z-scores were unchanged. Nephrocalcinosis scores remained stable. Adults had increased cortical thickness at the radius diaphysis (P = .012). Serum alkaline phosphatase decreased in children (P = .021) and parathyroid hormone trended lower both in children (P = .065) and adults (P = .063). Four participants developed mild hypercalcemia and 2 developed hypercalciuria that resolved with calcitriol titration.

conclusionCalcitriol monotherapy is safe and well-tolerated in XLH, with modest benefits on laboratory indices of mineral metabolism and rickets.

Indexed as

CalcitriolFamilial Hypophosphatemic RicketsAdolescentAdultBiomarkersCalciumChildChild, PreschoolFemaleHumansMaleMiddle AgedPhosphatesProspective StudiesTreatment OutcomeVitamin D25-hydroxyvitamin DBiomarkersCalcitriolCalciumPhosphatesVitamin Dcalcitriolphosphatericketsvitamin DXLH

Identifiers

PMID41137448
PMCPMC13017432

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.