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ClinicalTrials.gov public records Last synced Oct 24, 2026, 5:37 AM EDT

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Showing 1–24 of 34 matching trials from the live ClinicalTrials.gov search.
Filters: Condition: XLH Clear all
Completed Phase 4 Interventional Results available

A Trial to Assess the Safety and Efficacy of KRN23 in Epidermal Nevus Syndrome (ENS)

NCT04320316
View directory record Official record
Conditions
Epidermal Nevus Syndrome
Interventions
Crysvita (burosumab-twza) Treatment
Drug
Lead sponsor
University of Alabama at Birmingham
Other
Eligibility
6 Months and older · Male only
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020 – 2021
U.S. locations
1
States / cities
Birmingham, Alabama
Source: ClinicalTrials.gov public record
Updated Oct 7, 2022 · Synced Oct 24, 2026, 5:37 AM EDT
Completed No phase listed Observational

Study of People With Generalized Arterial Calcification of Infancy (GACI) or Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2)

NCT03478839
View directory record Official record
Conditions
Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets Type2
Interventions
Not listed
Lead sponsor
National Human Genome Research Institute (NHGRI)
NIH
Eligibility
1 Year to 110 Years
Enrollment
48 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 16, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 3 Interventional Results available

Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)

NCT02526160
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
burosumab, Placebo
Biological · Other
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
134 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
8
States / cities
Los Angeles, California • San Francisco, California • New Haven, Connecticut + 5 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Completed No phase listed Observational

Understanding the Spectrum of ENPP1 Deficiency and Acute ABCC6 Deficiency

NCT04372446
View directory record Official record
Conditions
Generalized Arterial Calcification in Infancy, Autosomal Recessive Hypophosphatemic Rickets Type 2
Interventions
Not listed
Lead sponsor
Inozyme Pharma
Industry
Eligibility
Not listed
Enrollment
38 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2020
U.S. locations
1
States / cities
Eagan, Minnesota
Source: ClinicalTrials.gov public record
Updated Apr 1, 2021 · Synced Oct 24, 2026, 5:37 AM EDT
Terminated Phase 2 Interventional

ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency

NCT06462547
View directory record Official record
Conditions
Gene Mutations, Pseudoxanthoma Elasticum, Arterial Calcification, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets Type 2
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
1 Year and older
Enrollment
22 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2026
U.S. locations
2
States / cities
Rochester, Minnesota • Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Oct 19, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 2 Interventional Results available

Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)

NCT02163577
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
burosumab
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
5 Years to 12 Years
Enrollment
52 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2018
U.S. locations
4
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 1 more
Source: ClinicalTrials.gov public record
Updated May 6, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Terminated Phase 1 Interventional

Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)

NCT01748812
View directory record Official record
Conditions
Osteomalacia
Interventions
Osteomalacia
Drug
Lead sponsor
National Institute of Dental and Craniofacial Research (NIDCR)
NIH
Eligibility
18 Years to 70 Years
Enrollment
1 participant
Healthy volunteers
Healthy volunteers not accepted
Timeline
2012 – 2016
U.S. locations
1
States / cities
Bethesda, Maryland
Source: ClinicalTrials.gov public record
Updated Jul 5, 2018 · Synced Oct 24, 2026, 5:37 AM EDT
Recruiting Early Phase 1 Interventional

The Impact of Phosphate Metabolism on Healthy Aging

NCT03771105
View directory record Official record
Conditions
Hypophosphatemia, Rickets, Hypercalciuria, XLH, HHRH
Interventions
phosphate
Drug
Lead sponsor
Yale University
Other
Eligibility
13 Years and older
Enrollment
30 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2028
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated May 27, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed No phase listed Observational

Natural History Study: ENPP1 Deficiency or the Early-Onset Form of ABCC6 Deficiency

NCT07745179
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, PXE (Pseudoxanthoma Elasticum)
Interventions
Not listed
Lead sponsor
Inozyme Pharma
Industry
Eligibility
1 Day and older
Enrollment
23 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2025
U.S. locations
1
States / cities
Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Aug 4, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 4 Interventional Results available

Examining the Effect of Burosumab on Muscle Function

NCT04146935
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
Burosumab Injection [Crysvita]
Drug
Lead sponsor
Yale University
Other
Eligibility
18 Years to 65 Years
Enrollment
10 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2022
U.S. locations
1
States / cities
New Haven, Connecticut
Source: ClinicalTrials.gov public record
Updated Aug 24, 2023 · Synced Oct 24, 2026, 5:37 AM EDT
Withdrawn Not applicable Interventional Accepts healthy volunteers

Calcimimetics in Hypophosphatemic Rickets

NCT00844740
View directory record Official record
Conditions
Familial Hypophosphatemic Rickets
Interventions
Cinacalcet
Drug
Lead sponsor
Children's Mercy Hospital Kansas City
Other
Eligibility
5 Years to 21 Years
Healthy volunteers
Accepts healthy volunteers
Timeline
2009 – 2012
U.S. locations
1
States / cities
Kansas City, Missouri
Source: ClinicalTrials.gov public record
Updated Dec 17, 2020 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 3 Interventional Results available

Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH

NCT02915705
View directory record Official record
Conditions
X-Linked Hypophosphatemia
Interventions
burosumab, Oral Phosphate Supplement, active vitamin D
Biological · Drug
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
1 Year to 12 Years
Enrollment
61 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
5
States / cities
Los Angeles, California • San Francisco, California • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Aug 29, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 1Phase 2 Interventional

Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ENPP1 Deficiency

NCT04686175
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
18 Years to 64 Years
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2021 – 2024
U.S. locations
2
States / cities
Rochester, Minnesota • Eatontown, New Jersey
Source: ClinicalTrials.gov public record
Updated Feb 5, 2025 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 2 Interventional Results available

Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)

NCT02750618
View directory record Official record
Conditions
X-Linked Hypophosphatemia
Interventions
Burosumab
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
1 Year to 4 Years
Enrollment
13 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2016 – 2019
U.S. locations
3
States / cities
New Haven, Connecticut • Indianapolis, Indiana • St Louis, Missouri
Source: ClinicalTrials.gov public record
Updated May 6, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Not applicable Interventional

Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.

NCT02233322
View directory record Official record
Conditions
Autosomal Dominant Hypophosphatemic Rickets
Interventions
Iron
Dietary Supplement
Lead sponsor
Indiana University
Other
Eligibility
25 Months and older
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2014 – 2019
U.S. locations
1
States / cities
Indianapolis, Indiana
Source: ClinicalTrials.gov public record
Updated Nov 14, 2019 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 2 Interventional Results available

Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)

NCT02312687
View directory record Official record
Conditions
X-Linked Hypophosphatemia
Interventions
KRN23
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
Not listed
Enrollment
20 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated May 6, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Active, not recruiting No phase listed Observational

X-linked Hypophosphatemia Disease Monitoring Program

NCT03651505
View directory record Official record
Conditions
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Interventions
No intervention
Other
Lead sponsor
Ultragenyx Pharmaceutical Inc
Industry
Eligibility
Not listed
Enrollment
782 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2032
U.S. locations
24
States / cities
Birmingham, Alabama • Los Angeles, California • San Diego, California + 18 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Early Phase 1 Interventional Results available

Calcitriol Monotherapy for X-Linked Hypophosphatemia

NCT03748966
View directory record Official record
Conditions
X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
Interventions
Calcitriol
Drug
Lead sponsor
Massachusetts General Hospital
Other
Eligibility
3 Years to 70 Years
Enrollment
16 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2019 – 2026
U.S. locations
1
States / cities
Boston, Massachusetts
Source: ClinicalTrials.gov public record
Updated May 7, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Withdrawn No phase listed Observational

Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia

NCT07607600
View directory record Official record
Conditions
X-linked Hypophosphatemia (XLH)
Interventions
No treatment given
Other
Lead sponsor
Novo Nordisk A/S
Industry
Eligibility
18 Years to 64 Years
Healthy volunteers
Healthy volunteers not accepted
Timeline
2026 – 2030
U.S. locations
4
States / cities
New Haven, Connecticut • Indianapolis, Indiana • Columbus, Ohio + 1 more
Source: ClinicalTrials.gov public record
Updated Aug 28, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Terminated Phase 1 Interventional

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

NCT05734196
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Autosomal Recessive Hypophosphatemic Rickets, Generalized Arterial Calcification of Infancy, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Pseudoxanthoma Elasticum
Interventions
INZ-701
Drug
Lead sponsor
Inozyme Pharma
Industry
Eligibility
Up to 1 Year
Enrollment
9 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2023 – 2026
U.S. locations
3
States / cities
San Diego, California • Columbus, Ohio • Philadelphia, Pennsylvania
Source: ClinicalTrials.gov public record
Updated Oct 15, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed No phase listed Observational

FGF23 and Angiotensin-(1-7) in Hypophosphatemia (GAP)

NCT03489993
View directory record Official record
Conditions
Hypophosphatemia, X-linked Hypophosphatemia, Renin-angiotensin System, Left Ventricular Hypertrophy
Interventions
Ang II and Ang-(1-7), FGF23 and klotho
Diagnostic Test
Lead sponsor
Wake Forest University Health Sciences
Other
Eligibility
2 Years to 24 Years
Enrollment
8 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2018 – 2020
U.S. locations
1
States / cities
Winston-Salem, North Carolina
Source: ClinicalTrials.gov public record
Updated Aug 5, 2022 · Synced Oct 24, 2026, 5:37 AM EDT
Completed No phase listed Observational

Natural History Study of ENPP1 Deficiency and the Early-onset Form of ABCC6 Deficiency

NCT05050669
View directory record Official record
Conditions
Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy, Autosomal Recessive Hypophosphatemic Rickets, Adenosine Triphosphate Binding Cassette Transporter Protein Subfamily C Member 6
Interventions
No Intervention for this observational study
Other
Lead sponsor
Inozyme Pharma
Industry
Eligibility
2 Years to 18 Years
Enrollment
12 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2022 – 2024
U.S. locations
3
States / cities
Boston, Massachusetts • Philadelphia, Pennsylvania • Fort Worth, Texas
Source: ClinicalTrials.gov public record
Updated Jul 6, 2026 · Synced Oct 24, 2026, 5:37 AM EDT
Completed Phase 3 Interventional Results available

Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)

NCT02537431
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
burosumab
Biological
Lead sponsor
Kyowa Kirin, Inc.
Industry
Eligibility
18 Years to 65 Years
Enrollment
14 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2015 – 2018
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Jun 18, 2024 · Synced Oct 24, 2026, 5:37 AM EDT
Recruiting Phase 1Phase 2 Interventional

A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia

NCT06525636
View directory record Official record
Conditions
X-linked Hypophosphatemia
Interventions
KK8123
Drug
Lead sponsor
Kyowa Kirin Co., Ltd.
Industry
Eligibility
18 Years to 65 Years
Enrollment
39 participants
Healthy volunteers
Healthy volunteers not accepted
Timeline
2024 – 2029
U.S. locations
5
States / cities
San Francisco, California • New Haven, Connecticut • Indianapolis, Indiana + 2 more
Source: ClinicalTrials.gov public record
Updated Sep 21, 2026 · Synced Oct 24, 2026, 5:37 AM EDT