Myotonia Clinical Trial
Official title:
Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes
Background: Myotonic dystrophy lead to highly heterogeneous, multisystemic symptoms
including myotonia, progressive muscle weakness, cardiac conduction defects, cataract,
metabolic dysfunction, and excessive daytime somnolence. This last symptom is related to
respiratory failure and/or to involvement of the central nervous system. However the
metabolic disturbances could contribute to it. From the respiratory point of view this
disease is characterised by the progressive appearance of respiratory failure of muscular
origin but mainly associated with a defect in the central respiratory drive. The treatment
for this hypoventilation is non-invasive ventilation (NIV).
It is not currently absolutely clear as to the best choice of criteria to judge long term
effectiveness of NIV. The most usual criteria are normalisation of daytime blood gases,
diminution of respiratory work, improvement in daytime symptoms and improvement in sleep
structure. Other criteria are currently little studied, for instance the contribution of the
interaction between alveolar hypoventilation and oxygen desaturation during the night and
biological deficiencies such as systemic inflammation, glucose intolerance or insulin
resistance. Likewise there is little information about the interaction between alveolar
hypoventilation and endothelial dysfunction and arterial stiffness both being accurate
predictive factors for cardiovascular risks.
Aim: to evaluate the impact of NIV on endothelial dysfunction in patients with myotonic
dystrophy. The secondary objectives are to assess the impact of NIV on systemic
inflammation, arterial stiffness, insulin-resistance, quality of sleep, and daytime
vigilance in these patients.
Methods: Patients with chronic alveolar hypoventilation already treated by long term NIV
will be included. They will have an initial check-up (Visit 1), then will interrupt NIV
treatment for four weeks (Visit 2), and then return to NIV treatment. The last check-up will
be done four weeks after NIV resumption (Visit3).
Expected results: It is expected that NIV withdrawal will results in a deterioration of
cardio-vascular parameters (endothelial function and arterial stiffness), metabolic
parameters (insulin-resistance and systemic inflammation), quality of sleep and daytime
vigilance. Return to NIV treatment may show an improvement of these parameters with a basal
state recovery.
NIV is a technique of assisted ventilation that does not use the endotracheal route as the
interface between the patient and the ventilator. NIV by positive pressure assistance
involves ventilating the patient by means of a mask adjusted on the nose or covering the
nose and mouth. This technique is now the recommended therapeutic strategy for the treatment
of chronic alveolar hypoventilation. It improves survival and quality of life, and improves
daytime blood gases in patients suffering form chronic restrictive respiratory failure.
For each check-up (3 visits), patients will have a polysomnography, a complete respiratory
function measurement (Flows and lung volumes, CO2 sensitivity test, SNIF test, blood gazes
analysis), a test of endothelial function (peripheral arterial tone), a test of arterial
stiffness (pulse wave velocity), an assessment of systemic inflammation (ultra sensitive
CRP, TNFa, IL6), assessment of diurnal vigilance tests ( OSLER test and sleepiness scale)
and assessment of metabolic and endocrinal function (insulinemia, glucose blood level,
Leptin, DHEA).
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Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Supportive Care
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