Myotonic Dystrophy, SteinertSteinertNCT03764150
Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years
An observational study of Myotonic Dystrophy, Steinert, run by University Hospital, Lille at 6 sites in France.
Trial summary
The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory events This evaluation will clarify the clinical phenotypes of respiratory disease in myotonic steinert dystrophy. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Myotonic Dystrophy, Steinert
- How many people
- 113 participants
- Where
- 6 sitesFrance
- Study dates
- 30 Jun 2010to 11 Jun 2023
- Phase
- Observational
- 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
Study population: patient with a myotonic dystrophy of Steinert who consults in pneumology and who will have Respiratory functional exploration
Who may be able to join
- Myotonic dystrophy of Steinert genetically confirmed (number of known CTG repeats), in its classical form of adult
Who cannot join
- Inability to perform EFR assessment or polysomnography
- Moderate to severe asthma according to the GINA classification
- moderate to severe COPD (> stage 1 of the GOLD recommendations)
- Other significant respiratory pathology
- Patient already on NIV, CPAP or under oxygen therapy
- Impossibility of receiving enlightened information
- Inability to participate in the entire study
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
France6 sites
Centre Hospitalier Regional D' Angers
Angers
Ap-Hp Hu Paris Site Raymond Poincare
Garches
Hôpital Calmette, CHRU
Lille
Chu Montpellier
Montpellier
Chu de Nantes :Site Hôtel-Dieu- Hme - Nantes 1
Nantes
Ap-Hp Hu Pitie Salpetriere
Paris
About this study
The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory events This evaluation will clarify the clinical phenotypes of respiratory disease in myotonic steinert dystrophy.
- Conditions
- Myotonic Dystrophy, Steinert
- Keywords
- Sleep Apnea Syndrome, Muscular Diseases, non invasive ventilation, Diaphragmatic Disorder
- Medical subject headings
- Myotonic Dystrophy, Sleep Apnea Syndromes, Muscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| PaCO2> 45 mmHg | Diurnal hypercapnia defined by PaCO2> 45 mmHg | |
| PaCO2 <45 mmHg | PaCO2 diurnal within the limits of normal (PaCO2 <45 mmHg) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change of measurement of spirometry
composite predictive factors of alveolar hypoventilation
Measured: every year during 5 years
Change respiratory force
composite predictive factors of alveolar hypoventilation to change Inspiratory and expiratory force
Measured: every year during 5 years
Change CO2 response (Read test)
composite predictive factors of alveolar hypoventilation
Measured: every year during 5 years
Change subjective sleepiness (Epworth)
composite predictive factors of alveolar hypoventilation
Measured: every year during 5 years
change Krupp's Fatigue Severity Scale (KFSS)
composite predictive factors of alveolar hypoventilation This is a short questionnaire of 9 questions to which the patient responds on a Likert scale ranging from 1 to 7
Measured: every year during 5 years
change cognitive impairment by Trail Making Test A & B
composite predictive factors of alveolar hypoventilation Trail Making Test is a neuropsychological test of visual attention and task switching. It consists of two parts in which the subject is instructed to connect a set of 25 dots as quickly as possible while still maintaining accuracy.
Measured: every year during 5 years
change Oximetry
composite predictive factors of alveolar hypoventilation
Measured: every year during 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Dec 2018
- Study start30 Jun 2010
- Primary completion11 Jun 2023
- Study completion11 Jun 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy, SteinertStudies of the same condition, open and under way.
- More trials run by University Hospital, LilleThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 113 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Lille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thierry Perez, MD, Principal investigator, University Hospital, Lille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03764150
- Sponsor's protocol ID
- 2009_04/0923
- Other IDs
- 2009-A00588-49
- Acronym
- Steinert
- Status last verified
- Dec 2025
- First submitted
- 19 Nov 2018
- Last updated
- 5 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years
- ClinicalTrials.gov ID
- NCT03764150
- Acronym / sponsor ID
- Steinert / 2009_04/0923
- Conditions
- Myotonic Dystrophy, Steinert
- Keywords
- Sleep Apnea Syndrome, Muscular Diseases, non invasive ventilation, Diaphragmatic Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 113 participants (actual)
- Lead sponsor
- University Hospital, LilleUniversity, hospital or other
- Study start
- 30 Jun 2010 (actual)
- Primary completion
- 11 Jun 2023 (actual)
- Study completion
- 11 Jun 2023 (actual)
- First posted
- 4 Dec 2018 (actual)
- 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.
The aim of this study is to determine the factors associated with alveolar hypoventilation in terms of cognitive impairment, daytime sleepiness, respiratory function, nocturnal respiratory events This evaluation will clarify the clinical phenotypes of respiratory disease in myotonic steinert dystrophy.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PaCO2> 45 mmHg | – | –Diurnal hypercapnia defined by PaCO2> 45 mmHg |
| PaCO2 <45 mmHg | – | –PaCO2 diurnal within the limits of normal (PaCO2 <45 mmHg) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- patient with a myotonic dystrophy of Steinert who consults in pneumology and who will have Respiratory functional exploration
Key inclusion criteria (1 listed)
- Myotonic dystrophy of Steinert genetically confirmed (number of known CTG repeats), in its classical form of adult
Key exclusion criteria (7 listed)
- Inability to perform EFR assessment or polysomnography
- Moderate to severe asthma according to the GINA classification
- moderate to severe COPD (> stage 1 of the GOLD recommendations)
- Other significant respiratory pathology
- Patient already on NIV, CPAP or under oxygen therapy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change of measurement of spirometry
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation
Change respiratory force
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation to change Inspiratory and expiratory force
Change CO2 response (Read test)
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation
Change subjective sleepiness (Epworth)
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation
change Krupp's Fatigue Severity Scale (KFSS)
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation This is a short questionnaire of 9 questions to which the patient responds on a Likert scale ranging from 1 to 7
change cognitive impairment by Trail Making Test A & B
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation Trail Making Test is a neuropsychological test of visual attention and task switching. It consists of two parts in which the subject is instructed to connect a set of 25 dots as quickly as possible while still maintaining accuracy.
change Oximetry
Time frame: every year during 5 years
composite predictive factors of alveolar hypoventilation
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Dec 2025.
- Individual participant dataSharing planned: No
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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.
Thierry Perez, MD principal investigator
University Hospital, Lille
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy, Steinert, run by University Hospital, Lille at 6 sites in France.
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 1 inclusion and 7 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: finished, as of the sponsor's last update on 5 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in France. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change of measurement of spirometry (time frame: every year during 5 years). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 5 Dec 2025.