Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy

NCT ID: NCT02880735

Last Updated: 2018-07-11

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

27 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-09-30

Study Completion Date

2019-04-30

Brief Summary

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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

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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.

Conditions

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Myotonic Dystrophy 1 Steinert Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Non Invasive Ventilation.

Intervention Type DEVICE

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.

Interventions

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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.

Intervention Type DEVICE

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Respiratory Diseases, Mexico

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Rogelio Perez Padilla, MD

Role: STUDY_CHAIR

National Institute of Respiratory Diseases, Mexico

Martha G Torres Fraga, MD

Role: PRINCIPAL_INVESTIGATOR

National Institute of Respiratory Diseases, Mexico

Locations

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National Institute Of Respiratory Diseases

México, , Mexico

Site Status RECRUITING

Countries

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Mexico

Central Contacts

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Martha G Torres Fraga, MD

Role: CONTACT

(52) 5556668640

Jose L Carrillo Alduenda, MD

Role: CONTACT

(52)5554871700 ext. 5242

Facility Contacts

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Martha G Torres Fraga, MD

Role: primary

(52)5556668640

References

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Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013 Dec;32(3):154-65.

Reference Type RESULT
PMID: 24803843 (View on PubMed)

Mankodi A, Thornton CA. Myotonic syndromes. Curr Opin Neurol. 2002 Oct;15(5):545-52. doi: 10.1097/00019052-200210000-00005.

Reference Type RESULT
PMID: 12351998 (View on PubMed)

Carroll JE, Zwillich CW, Weil JV. Ventilatory response in myotonic dystrophy. Neurology. 1977 Dec;27(12):1125-8. doi: 10.1212/wnl.27.12.1125.

Reference Type RESULT
PMID: 563010 (View on PubMed)

Poussel M, Thil C, Kaminsky P, Mercy M, Gomez E, Chaouat A, Chabot F, Chenuel B. Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level. Neuromuscul Disord. 2015 May;25(5):403-8. doi: 10.1016/j.nmd.2015.02.006. Epub 2015 Feb 17.

Reference Type RESULT
PMID: 25753091 (View on PubMed)

Jammes Y, Pouget J, Grimaud C, Serratrice G. Pulmonary function and electromyographic study of respiratory muscles in myotonic dystrophy. Muscle Nerve. 1985 Sep;8(7):586-94. doi: 10.1002/mus.880080708.

Reference Type RESULT
PMID: 4047090 (View on PubMed)

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.

Reference Type RESULT
PMID: 11972163 (View on PubMed)

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.

Reference Type RESULT
PMID: 10836341 (View on PubMed)

Other Identifiers

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C46-15

Identifier Type: -

Identifier Source: org_study_id

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