Active clinical trials for "Mitochondrial Myopathies"

This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial function in ambulatory spinal muscular atrophy (SMA) patients and disease controls. It is a 6-month observational study including 14 ambulatory SMA patients, 14 ambulatory patients with mitochondrial myopathy, and 14 healthy controls.

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.

The aim of this study is to assess nutritional intake (quantitatively and qualitatively), nutritional state and body composition of patients suffering from mitochondrial cytopathy, compared to healthy controls. The energy intake will be calculated through dietary protocols, the energy expenditure by indirect calorimetry and body composition will be performed with bio-impedance analysis. Further on, the investigators expect to be able to provide nutritional counselling to this population in order to increase energy and protein intake, which may improve health and well-being.