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Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02880735
Recruitment Status : Recruiting
First Posted : August 26, 2016
Last Update Posted : July 11, 2018
Information provided by (Responsible Party):
National Institute of Respiratory Diseases, Mexico

Brief Summary:

It has been suggested that patients with Myotonic Dystrophy type 1 have primary altered ventilatory response to chemical stimuli and chronic hypoventilation is related not always to muscle weakness. Also, it is known that Non Invasive Mechanical Ventilation can improve ventilatory response to chemical stimuli, especially to hypercapnia.

This study evaluates the effect of Non Invasive Mechanical Ventilation on ventilatory response in patients with Type 1 Myotonic Dystrophy, the ventilatory response to chemical stimuli will be measured before and after mechanical ventilation in patients with myotonic dystrophy type 1.

Condition or disease Intervention/treatment Phase
Myotonic Dystrophy 1 Steinert Disease Device: Non Invasive Ventilation. Not Applicable

Detailed Description:

Type 1 Myotonic Dystrophy is a hereditary neuromuscular disease with an autosomal dominant pattern whose prevalence is 1/8000 inhabitants and is the most common muscular dystrophy in adults. It is multisystem disease and is characterized by myotonia, progressive muscle loss and a wide spectrum of manifestations.

Myotonic dystrophy type 1 causes a high impact on health and quality of life of patients as functional impairment can reach the incapacity and total dependence in basic activities of daily living. As in most neuromuscular diseases, progressive muscle weakness at some point in the evolution affects the respiratory muscles. However, in some patients with myotonic dystrophy type 1 it has been observed that muscle weakness does not explain ventilatory failure, and is believed to be due to a primary reduction in the central ventilatory response to hypercapnia present in this disease.

Non Invasive Mechanical Ventilation (NIV) is a long-term treatment that provides ventilatory assistance through an interface that does not invade the airway and currently can be provided to patients in the home environment; It is a resource that has shown to improve the quality of life, daytime gas exchange and survival in patients with neuromuscular diseases, even when used only during sleep. It is not clear the mechanism by which NIV during daytime sleep improves gas exchange in patients with neuromuscular diseases, even in advanced stages where breathing muscles effectors are severely affected.

It has been proposed that NIV used during sleep can improve the sensitivity of the respiratory center to carbon dioxide but this has not been demonstrated in patients with Type 1 Myotonic Dystrophy, to answer this question, it is proposed to compare the central ventilatory response to chemical stimuli after a period of NIV in patients with Type 1 Myotonic Dystrophy.

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 27 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1
Actual Study Start Date : September 2016
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : April 2019

Arm Intervention/treatment
Experimental: Non Invasive Ventilation.

It will provide noninvasive mechanical ventilation with the following specifications:

Bilevel devices: Pressurized bilevel mode Spontaneous/Time. Interface: Facial mask Usage: During sleep Frequency: Daily Duration: Three months.

Device: Non Invasive Ventilation.
Non Invasive Mechanical Ventilation through oronasal mask. Mode: Bilevel with rate backup (spontaneous/time). Inspiratory Pressure: 30-10, Expiratory Pressure : 4-15, Backup Rate;14-25 rpm. Use Time: During Sleep.

Primary Outcome Measures :
  1. Ventilatory Response to Chemical Stimuli [ Time Frame: Three months ]
    Increase the minute volume per unit of hypercapnia or hypoxemia, in a test of acute stimulation.

Secondary Outcome Measures :
  1. Health Related Quality of Life Measured by Short Form 36 (SF-36) [ Time Frame: Three months ]
    Scale for measuring the quality of life related to health in 8 domains (vitality, physical functioning, bodily pain, general health perception, physical role functioning, emotional role functioning, social role functioning, mental health), each rated from 0 to 100%. The higher score means better quality of life.

  2. Dyspnoea evaluated by the modified scale of the Medical Research Council (mMRC) [ Time Frame: Three months ]
    Rate dyspnea at 5 degrees from 0 to 5. 0: Not troubled by breathless except on strenuous exercise. 1: Short of breath when hurrying on a level or when walking up a slight hill. 2: Walks slower than most people on the level, stops after a mile or so, or stops after 15 minutes walking at own pace. 3: Stops for breath after walking 100 yards, or after a few minutes on level ground. 4: Too breathless to leave the house, or breathless when dressing/undressing.

  3. Sleep Quality assessed by The Pittsburgh Sleep Quality Index (PSQI) [ Time Frame: three months ]
    Assesses sleep quality. Contains 19 questions, each weighted on a 0-3 interval scale. A global PSQI score is taken from the survey, with lower scores correlating to better sleep quality.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Classic variety of Myotonic Dystrophy Type 1
  • Molecular confirmation through the standard method

Exclusion Criteria:

  • Using currently invasive mechanical ventilation.
  • Acute decompensation of respiratory or cardiac origin in the last 6 months, which required hospital care.
  • Drugs that may alter the ventilatory response: benzodiazepines, neuroleptics, corticosteroids, theophylline, acetazolamide

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02880735

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Contact: Martha G Torres Fraga, MD (52) 5556668640
Contact: Jose L Carrillo Alduenda, MD (52)5554871700 ext 5242

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National Institute Of Respiratory Diseases Recruiting
Mexico, Mexico, 14080
Contact: Martha G Torres Fraga, MD    (52)5556668640   
Principal Investigator: Martha G Torres Fraga, MD         
Sub-Investigator: Jose L Carrillo Alduenda, MD         
Sub-Investigator: Luis Torre Bouscoulet, PhD         
Sub-Investigator: Oscar Hernandez Hernandez, PhD         
Sponsors and Collaborators
National Institute of Respiratory Diseases, Mexico
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Study Chair: Rogelio Perez Padilla, MD National Institute of Respiratory Diseases, Mexico
Principal Investigator: Martha G Torres Fraga, MD National Institute of Respiratory Diseases, Mexico
Publications of Results:
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Responsible Party: National Institute of Respiratory Diseases, Mexico Identifier: NCT02880735    
Other Study ID Numbers: C46-15
First Posted: August 26, 2016    Key Record Dates
Last Update Posted: July 11, 2018
Last Verified: July 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Participant data to be shared will be: Results of functional testing and prescription ventilation.
Keywords provided by National Institute of Respiratory Diseases, Mexico:
Myotonic Dystrophy
Noninvasive Ventilation
Respiratory Failure
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn