A Single Case Study of Hypermetabolism

Not Applicable

Completed

• Conditions: Hypermetabolism Due to Defect in Mitochondria; Luft Disease

• Registration Number: NCT04805268
• Lead Sponsor: The Hospital for Sick Children

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.

Detailed Description

The subject will undergo a fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography (18F FDG PET/CT) at the Diagnostic Imaging unit of The Hospital for Sick Children.

Study Timeline

• Study Start: 2020-12-14
• Primary Completion: 2021-01-08
• Study First Submitted: 2021-03-03
• Study First Submitted QC: 2021-03-15
• Study First Posted: 2021-03-18
• Status Verified: 2022-12
• Study Completion: 2022-12-15
• Last Update Submitted: 2022-12-21
• Last Update Posted: 2022-12-22

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 1

Inclusion Criteria

• Diagnosis of hypermetabolism, possible Luft's disease.

Exclusion Criteria

• None

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Brown/beige fat tissue distribution and activity. Measurement tool- 18F FDG PET/CT (fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography)	1 day	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).

Trial Locations

Locations (1)

The Hospital for Sick Children; 🇨🇦 Toronto, Canada