NCT04146935

Brief Summary

Patients with X-linked hypophosphatemia (XLH) often report symptoms of fatigue and weakness particularly after exertion, in addition to their skeletal complaints. In previous trials using KRN23 (same drug as burosumab/Crysvita®), patients report these symptoms improve. The investigators wish to test this hypothesis directly by measuring muscle energy when patients begin treatment with Crysvita® for the first time.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10

participants targeted

Target at below P25 for phase_4

Timeline
Completed

Started Nov 2019

Typical duration for phase_4

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

October 29, 2019

Completed
2 days until next milestone

First Posted

Study publicly available on registry

October 31, 2019

Completed
13 days until next milestone

Study Start

First participant enrolled

November 13, 2019

Completed
2.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 25, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 25, 2022

Completed
12 months until next milestone

Results Posted

Study results publicly available

August 24, 2023

Completed
Last Updated

August 24, 2023

Status Verified

August 1, 2023

Enrollment Period

2.8 years

First QC Date

October 29, 2019

Results QC Date

July 27, 2023

Last Update Submit

August 22, 2023

Conditions

X-linked Hypophosphatemia

Keywords

CrysvitaBurosumab

Outcome Measures

Primary Outcomes (1)

  • Skeletal Muscle Adenosine Triphosphate (ATP) Synthesis Rate

    Rates of mitochondrial phosphorylation activity were assessed in the soleus/gastrocnemius muscle complex of the right calf by 31P magnetic resonance spectroscopy saturation transfer technique (micro-mol/g/min)

    2.5 months

Secondary Outcomes (2)

  • Serum Phosphate

    2.5 months

  • Intracellular Phosphate Concentration in Umol/g Muscle

    2.5 months

Other Outcomes (3)

  • Six-minute Walk Test

    2.5 months

  • Sit to Stand

    2.5 months

  • Timed up and go Test

    2.5 months

Study Arms (1)

Patients with XLH

EXPERIMENTAL

Patients will receive Burosumab monthly at visits 1,2 and 3 subcutaneously at a dose of 1.0 mg/kg. Dose may be adjusted as needed.

Drug: Burosumab Injection [Crysvita]

Interventions

Burosumab Injection [Crysvita]DRUG

Burosumab/Crysvita SC injection monthly

Also known as: Crysvita
Patients with XLH

Eligibility Criteria

Age18 Years - 65 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • years of age
  • Diagnosis of XLH
  • eGFR ≥ 50 (estimated glomerular filtration rate)
  • Normal serum calcium
  • Phosphate ≤ 2.5 mg/dl
  • Deemed clinically appropriate for starting therapy with Burosumab/Crysvita® (based on the treating physician's evaluation)
  • Deemed appropriate for MR Spectroscopy

You may not qualify if:

  • Patients with fixed skeletal abnormalities which would prevent them from successfully completing study-related functional assessments
  • Patients unwilling to stop therapy with supplemental phosphate and calcitriol 2 weeks prior to enrollment.
  • Patients who have undergone an orthopaedic procedure within the previous 6 months involving implantation of metal hardware

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Yale University School of Medicine

New Haven, Connecticut, 06520, United States

Location

Related Publications (1)

  • Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Hypophosphatemia promotes lower rates of muscle ATP synthesis. FASEB J. 2016 Oct;30(10):3378-3387. doi: 10.1096/fj.201600473R. Epub 2016 Jun 23.

    PMID: 27338702BACKGROUND

MeSH Terms

Conditions

Familial Hypophosphatemic Rickets

Interventions

burosumab

Condition Hierarchy (Ancestors)

Rickets, HypophosphatemicRicketsBone Diseases, MetabolicBone DiseasesMusculoskeletal DiseasesHypophosphatemia, FamilialRenal Tubular Transport, Inborn ErrorsKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesMetal Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesCalcium Metabolism DisordersHypophosphatemiaPhosphorus Metabolism DisordersVitamin D DeficiencyAvitaminosisDeficiency DiseasesMalnutritionNutrition Disorders

Results Point of Contact

Title
Dr. Karl Insogna
Organization
Yale School of Medicine
karl.insogna@yale.edu
203-785-3272

Study Officials

  • Karl L Insogna, M.D.

    Yale University

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
phase 4
Allocation
NA
Masking
NONE
Purpose
OTHER
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 29, 2019

First Posted

October 31, 2019

Study Start

November 13, 2019

Primary Completion

August 25, 2022

Study Completion

August 25, 2022

Last Updated

August 24, 2023

Results First Posted

August 24, 2023

Record last verified: 2023-08

Data Sharing

IPD Sharing
Will not share

Locations

US(1)