A Single Case Study of Hypermetabolism

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.

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Key information

Conditions

Hypermetabolism Due to Defect in Mitochondria Luft Disease Metabolic Diseases Mitochondrial Diseases Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases

Age range

9 year–18 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

The Hospital for Sick Children

Toronto, Canada

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Diagnosis of hypermetabolism, possible Luft's disease.

Exclusion criteria

None

Treatment and study plan

18F FDG PET/CT

Diagnostic Test

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

Primary outcomes

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

Time frame: 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).

Sponsors and collaborators

Lead sponsor

The Hospital for Sick Children

Other

Registry information

Important dates

Study start: 2020
Primary completion: 2021
Study completion: 2022
First posted: Mar 18, 2021
Registry last updated: Dec 22, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed