NCT04805268

Brief Summary

In the Metabolic Disorder clinic at The Hospital for Sick Children, the investigators identified a male, proband with possible Luft's disease. The investigators hypothesize that Luft's disease is caused by excess or dysregulation of brown/beige fat tissue. To address the hypothesis, the investigators would like to assess brown fat distribution and activity in this subject.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
1

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Dec 2020

Typical duration for not_applicable

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

Study Start

First participant enrolled

December 14, 2020

Completed
25 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 8, 2021

Completed
2 months until next milestone

First Submitted

Initial submission to the registry

March 3, 2021

Completed
15 days until next milestone

First Posted

Study publicly available on registry

March 18, 2021

Completed
1.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 15, 2022

Completed
Last Updated

December 22, 2022

Status Verified

December 1, 2022

Enrollment Period

25 days

First QC Date

March 3, 2021

Last Update Submit

December 21, 2022

Conditions

Hypermetabolism Due to Defect in MitochondriaLuft Disease

Outcome Measures

Primary Outcomes (1)

  • Brown/beige fat tissue distribution and activity. Measurement tool- 18F FDG PET/CT (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography)

    Areas of 18F-FDG uptake on PET colocalizing with regions of fat will be identified on CT (-250to -10 Hounsfield Units) and quantified by Standard Uptake Value (SUV).

    1 day

Study Arms (1)

One subject with possible Luft's disease

EXPERIMENTAL

18F-FDG will be administered I.V., approximately 1 hour prior to PET/CT scan.

Diagnostic Test: 18F FDG PET/CT

Interventions

18F FDG PET/CTDIAGNOSTIC_TEST

18F FDG PET/CT imaging (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography).

One subject with possible Luft's disease

Eligibility Criteria

Age9 Years - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)

You may qualify if:

  • Diagnosis of hypermetabolism, possible Luft's disease.

You may not qualify if:

  • None

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

The Hospital for Sick Children

Toronto, Canada

Location

MeSH Terms

Conditions

Hypermetabolism due to Defect in MitochondriaMitochondrial Myopathies

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesMitochondrial DiseasesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Andreas Schulze, MD

    The Hospital for Sick Children

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

March 3, 2021

First Posted

March 18, 2021

Study Start

December 14, 2020

Primary Completion

January 8, 2021

Study Completion

December 15, 2022

Last Updated

December 22, 2022

Record last verified: 2022-12

Locations

CA(1)