Clinical trial NCT02880735: Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
Official title: Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Myotonic Dystrophy 1
Steinert Disease
Keywords: Myotonic Dystrophy
Noninvasive Ventilation
Respiratory Failure
Lead sponsor: National Institute of Respiratory Diseases, Mexico
Sponsor class: OTHER_GOV
First posted: 2016-08-26
Enrollment: 27
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Ventilatory Response to Chemical Stimuli
timeFrame: Three months
Secondary outcomes:
measure: Health Related Quality of Life Measured by Short Form 36 (SF-36)
timeFrame: Three months
measure: Dyspnoea evaluated by the modified scale of the Medical Research Council (mMRC)
timeFrame: Three months
measure: Sleep Quality assessed by The Pittsburgh Sleep Quality Index (PSQI)
timeFrame: three months
Other outcomes:
Locations:
city: Mexico
country: Mexico
facility: National Institute Of Respiratory Diseases
Study officials:
affiliation: National Institute of Respiratory Diseases, Mexico
name: Rogelio Perez Padilla, MD
role: STUDY_CHAIR
affiliation: National Institute of Respiratory Diseases, Mexico
name: Martha G Torres Fraga, MD
role: PRINCIPAL_INVESTIGATOR
References:
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citation: Brooks D, De Rosie J, Mousseau M, Avendano M, Goldstein RS. Long term follow-up of ventilated patients with thoracic restrictive or neuromuscular disease. Can Respir J. 2002 Mar-Apr;9(2):99-106. doi: 10.1155/2002/545612.
citation: Annane D, Quera-Salva MA, Lofaso F, Vercken JB, Lesieur O, Fromageot C, Clair B, Gajdos P, Raphael JC. Mechanisms underlying effects of nocturnal ventilation on daytime blood gases in neuromuscular diseases. Eur Respir J. 1999 Jan;13(1):157-62. doi: 10.1183/09031936.99.13115799.