Defining 31Phosphorous Magnetic Resonance Spectroscopy Characteristics in Patients With Mitochondrial Myopathy

Mass General Brigham

Status: Completed

Conditions: Mitochondrial Disease

Study type: Observational

Funder types: Other

Identifiers

NCT01301235

2010P002441

Details and patient eligibility

About

This is a developmental protocol to determine the MRI based 31P-MRS changes seen in subjects with mitochondrial myopathy using our dynamic exercise protocol and to identify the ideal variable(s) to represent mitochondrial function.

Enrollment: 8 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Men and women ≥ age 18 years old with primary mitochondrial myopathy
2. Known alteration in electron transport chain activity (<25 % activity of ETC) or known mutations in mitochondrial gene.

Exclusion criteria

Failure based on standard clinical MRI Screening form - the form is intended to establish the safety of subjects participating in the MRI scan without divulging any confidentiality information -

Trial design

8 participants in 1 patient group

Subjects with mitochondrial disease