27
Participants
Start Date
October 25, 2019
Primary Completion Date
December 31, 2021
Study Completion Date
December 31, 2021
Effort test
"Cardiac function:~Echocardiography: left ventricular ejection fraction and global longitudinal strain will be measured.~Cardiopulmonary exercise test (CPET): left ventricular stroke volume was assessed noninvasively using a thoracic bioelectrical impedance device : maximal stroke volume at the peak of effort will be considered.~Peripheral muscle function:~* CPET: Oxygen uptake (VO2) (and carbon dioxide) output are measured. The slope of the relationship (dQ/dVO2) will be calculated between cardiac output (Q) and VO2 using measurements of Q (using measure of the stroke volume by thoracic bioelectrical impedance device) and VO2 at rest as well as during submaximal and maximal exercise~* Muscle oxygenation is measured using a near-infrared spectroscopy device.~* VO2 et Q will be measured : dQ/dVO2 is high in case of oxydation defect; If Q is low because of a concommittant cardiac impairement, the DAV = VO2/Q, and DO = (Q x DAV) / (200 - DAV) will be calculated."
Functional tests on fibroblasts
Functional tests performed on fibroblasts in primary culture, using as tracers of stable isotope-labeled substrates. The metabolites of interest are assayed in mass spectrometry.
Hôpital Necker-Enfants Malades, Paris
URC-CIC Paris Descartes Necker Cochin
OTHER
Assistance Publique - Hôpitaux de Paris
OTHER