DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1

DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1

For some diseases, regular respiratory muscle training could delay the start of ventilation. For DM1, however, there are no clinically high-quality studies. Only a case description from the year 2006 showed a missing improvement of the symptoms after respiratory muscle training in one patient, accordingly there are no recommendations in this issue. Within the scope of this monocentric, three-arm, controlled intervention study, 45 patients with genetically confirmed type 1 myotonic dystrophy will be randomized in three groups of 15 patients each, age-, gender- and symptom-corrected by the MUSCULAR IMPAIRMENT RATING SCALE (MIRS). The DM1 patients will receive regular respiratory muscle training for a period of 9 months. The aim of this study is to evaluate the safety and effectiveness of regular inspiratory strength-breathing muscle training on 15 patients, the safety and effectiveness of regular inspiratory endurance respiratory muscle training on 15 patients, and the comparison to the natural course in 15 patients without training. Subsequently, we will provide treatment recommendations for respiratory training in DM1.

Inclusion Criteria:

• the patient is willing and able to provide a signed informed consent form
• the patient is ≥ 18 years old
• the diagnosis of type 1 myotonic dystrophy has been confirmed by molecular genetics
• the patient is able and willing to perform pulmonary function tests (PFT) and blood sampling for capillary blood gas analysis (pO2, pCO2) throughout the study, to keep a diary and to complete questionnaires

Exclusion Criteria:

• the patient requires invasive ventilation (non-invasive ventilation is allowed).
• the patient uses non-invasive ventilation more than 16h/day.
• the patient participates in another clinical study that involves therapy.
• the patient cannot perform pulmonary function tests (PFT).
• the patient is diagnosed with central sleep apnea in polysomnography and not sufficiently treated with NIV ventilation.
• the patient is diagnosed with obstructive sleep apnea and not sufficiently treated with NIV ventilation.
• the patient cannot meet the requirements of the study, according to the investigator.
• the patient is unable to complete a 6-minute walking test