Validation of Oxygen Nanosensor in Mitochondrial Myopathy

Phase 1

Recruiting

• Conditions: Mitochondrial Diseases; Mitochondrial Myopathies
• Interventions: Device: Nanosensor

• Registration Number: NCT04086329
• Lead Sponsor: Children's Hospital of Philadelphia

Brief Summary

Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response.

The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.

Detailed Description

This is an investigational device clinical trial. MM cases and healthy volunteers will undergo nanosensor muscle oxygen measurement in exercised (dominant) forearm muscle during handgrip exercise. The same measurements will be repeated between 7 and 30 days later in the same forearm and at the same time of day for each participant to assess reproducibility.

After placement of the nanosensor in the forearm under local anesthesia, the primary outcome measure is nanosensor-muscle oxygen levels. The secondary outcome measure is an assessment of pain.

Study Timeline

• Study First Submitted: 2019-09-06
• Study First Submitted QC: 2019-09-09
• Study First Posted: 2019-09-11
• Study Start: 2023-01-17
• Status Verified: 2024-12
• Last Update Submitted: 2025-01-22
• Last Update Posted: 2025-01-24
• Primary Completion: 2025-08-01
• Study Completion: 2025-08-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 24

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Healthy Controls	Nanosensor	Adult healthy volunteers will be individually matched with corresponding MM cases based on age, biological sex, and body mass index.
Affected MM Cases	Nanosensor	Key eligibility criteria for MM cases includes physically-capable adults (male and females, ages 18 to 65 years, inclusive) with genetically-confirmed MM with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue.

Primary Outcome Measures

Name	Time	Method
Nanosensor-muscle oxygen (Torr) levels	60 minutes for data collection at each 2 study visits, up to 6 months.	Nanosensor measured muscle O2 levels at baseline, during handgrip exercise and after exercise

Secondary Outcome Measures

Name	Time	Method
Pain and tolerability	At each 2 study visits, up to 6 months.

Trial Locations

Locations (1)

The Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States