Myotonic Dystrophy 1NCT02880735
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
A study testing Non Invasive Ventilation. in people with Myotonic Dystrophy 1 and Steinert Disease, run by National Institute of Respiratory Diseases, Mexico at 1 site in Mexico.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myotonic Dystrophy 1, Steinert Disease
- What is being tested?
- Non Invasive Ventilation.
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 27 participants
- Where
- 1 siteMexico
- Study dates
- Sep 2016to Apr 2019
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Classic variety of Myotonic Dystrophy Type 1
- Molecular confirmation through the standard method
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Mexico1 site, 1 recruiting
- Recruiting
National Institute Of Respiratory Diseases
México, 14080
Martha G Torres Fraga, MD, (52)5556668640, dra_marthagtf@hotmail.com
Martha G Torres Fraga, MD
About this study
Official title: Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1
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.
Read the 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.
- Conditions
- Myotonic Dystrophy 1, Steinert Disease
- Being tested
- Non Invasive Ventilation.
- Keywords
- Myotonic Dystrophy, Noninvasive Ventilation, Respiratory Failure
- Medical subject headings
- Myotonic Dystrophy, Respiratory Insufficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Non Invasive Ventilation.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.
| Study group | Role | What they receive |
|---|---|---|
| Non Invasive Ventilation. | Experimental | 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. Receives: Device: Non Invasive Ventilation. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ventilatory Response to Chemical Stimuli
Increase the minute volume per unit of hypercapnia or hypoxemia, in a test of acute stimulation.
Measured: Three months
Secondary outcomes (3)
Health Related Quality of Life Measured by Short Form 36 (SF-36)
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.
Measured: Three months
Dyspnoea evaluated by the modified scale of the Medical Research Council (mMRC)
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.
Measured: Three months
Sleep Quality assessed by The Pittsburgh Sleep Quality Index (PSQI)
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.
Measured: three months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Aug 2016 (estimated)
- Study startSep 2016
- Primary completionDec 2018 (estimated)
- Study completionApr 2019 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 27 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institute of Respiratory Diseases, Mexico
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Rogelio Perez Padilla, MD, Study chair, National Institute of Respiratory Diseases, MexicoMartha G Torres Fraga, MD, Principal investigator, National Institute of Respiratory Diseases, Mexico
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02880735
- Sponsor's protocol ID
- C46-15
- Status last verified
- Jul 2018
- First submitted
- 12 Aug 2016
- Last updated
- 11 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Yes: Participant data to be shared will be: Results of functional testing and prescription ventilation.
Publications
Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013 Dec;32(3):154-65.
PubMed 24803843Mankodi A, Thornton CA. Myotonic syndromes. Curr Opin Neurol. 2002 Oct;15(5):545-52. doi: 10.1097/00019052-200210000-00005.
PubMed 12351998Carroll JE, Zwillich CW, Weil JV. Ventilatory response in myotonic dystrophy. Neurology. 1977 Dec;27(12):1125-8. doi: 10.1212/wnl.27.12.1125.
PubMed 563010Poussel 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.
PubMed 25753091Jammes 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.
PubMed 4047090Brooks 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.
PubMed 11972163Annane 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.
PubMed 10836341
Study at a glance
From the registry record, last updated by the sponsor on 11 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT02880735
- Acronym / sponsor ID
- C46-15
- Conditions
- Myotonic Dystrophy 1, Steinert Disease
- Keywords
- Myotonic Dystrophy, Noninvasive Ventilation, Respiratory Failure
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 27 participants (estimated)
- Lead sponsor
- National Institute of Respiratory Diseases, MexicoOther government
- Study start
- Sep 2016 (actual)
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Apr 2019 (estimated)
- First posted
- 26 Aug 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Non Invasive Ventilation. | Experimental | Device: 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. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Classic variety of Myotonic Dystrophy Type 1
- Molecular confirmation through the standard method
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 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. | Device | Non Invasive Ventilation. |
Primary outcome
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.
3 secondary outcomes
Health Related Quality of Life Measured by Short Form 36 (SF-36)
Time frame: Three months
Dyspnoea evaluated by the modified scale of the Medical Research Council (mMRC)
Time frame: Three months
Sleep Quality assessed by The Pittsburgh Sleep Quality Index (PSQI)
Time frame: three months
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Jul 2018.
- Results publication: PubMed 24803843Meola G. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol. 2013 Dec;32(3):154-65.
- Results publication: PubMed 12351998Mankodi A, Thornton CA. Myotonic syndromes. Curr Opin Neurol. 2002 Oct;15(5):545-52. doi: 10.1097/00019052-200210000-00005.
- Results publication: PubMed 563010Carroll JE, Zwillich CW, Weil JV. Ventilatory response in myotonic dystrophy. Neurology. 1977 Dec;27(12):1125-8. doi: 10.1212/wnl.27.12.1125.
- Results publication: PubMed 25753091Poussel 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.
- Results publication: PubMed 4047090Jammes 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.
- Results publication: PubMed 11972163Brooks 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.
- Results publication: PubMed 10836341Annane 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.
- Individual participant dataSharing planned: Yes. Participant data to be shared will be: Results of functional testing and prescription ventilation.
Related trials for Myotonic Dystrophy 1
RecruitingObservational study
Metabolomic Biomarkers of Myotonic Dystrophy
Myotonic Dystrophy Type 1
RecruitingObservational study
DMCRN-02-001: Assessing Pediatric Endpoints in DM1
Congenital Myotonic Dystrophy, CDM
Recruiting
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
RecruitingObservational study
Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Myotonic Dystrophy 1, DM1
RecruitingObservational study
The Spanish National Registry for Myotonic Dystrophy Type 1
Myotonic Dystrophy 1, DM1
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Rogelio Perez Padilla, MD study chair
National Institute of Respiratory Diseases, Mexico
Martha G Torres Fraga, MD principal investigator
National Institute of Respiratory Diseases, Mexico
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Non Invasive Ventilation. in people with Myotonic Dystrophy 1 and Steinert Disease, run by National Institute of Respiratory Diseases, Mexico at 1 site in Mexico.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 11 Jul 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Mexico. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Martha G Torres Fraga, MD ((52) 5556668640, dra_marthagtf@hotmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ventilatory Response to Chemical Stimuli (time frame: Three months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02880735, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Jul 2018.