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Muscle OXPHOS and Nutrient Homeostasis

NCT02920671 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2024-09-03

No results posted yet for this study

Summary

Investigators are recruiting adults (men and women, ages 18 to 65 years, inclusive) with a confirmed genetic diagnosis of mitochondrial disease. Investigators are also recruiting both obese and normal-weight healthy volunteers (men and women, ages 18 to 65 years, inclusive) without a family history of mitochondrial disease to compare to affected individuals.

The study involves non-invasive MRI methods and glucose tests to focus on the relationship between mitochondrial disease, obesity, and the risk of diabetes. All study visit procedures will be completed within 2 days, which includes an overnight stay at the Hospital of the University of Pennsylvania. There are no study medications or sedations, and participants will be continually monitored during minimally-invasive procedures (e.g., blood draws).

All participants will be able to receive compensation. Furthermore, it may be possible to provide reimbursement for travel, lodging, and meals for individuals with mitochondrial disease.

Investigators hope that this research will contribute to the current knowledge of mitochondrial disease and that it will improve diagnostic and treatment approaches.

Conditions

Interventions

OTHER

Tracer-enhanced oral glucose tolerance test (OGTT*)

Oral glucose tolerance test with stable isotope tracers will be administered. Resting energy expenditure and respiratory quotient will be evaluated during this test using indirect calorimetry.

OTHER

Muscle MRI

Non-invasive muscle MRI will be performed to evaluated metabolic capacity.

OTHER

Dual energy x-ray absorptiometry (DXA)

DXA will be performed to evaluate body composition.

OTHER

Questionnaires

Questionnaires will be used to evaluate participants' health and habits.

Sponsors & Collaborators

Principal Investigators

  • Shana McCormack, MD, MTR · University of Pennsylvania & Children's Hospital of Philadelphia

Eligibility

Min Age
18 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-02-14
Primary Completion
2019-03-30
Completion
2024-08-28

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02920671 on ClinicalTrials.gov