Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years

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.

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Key information

Conditions

Myotonic Dystrophy, Steinert Apnea Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyssomnias Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Respiration Disorders Respiratory Tract Diseases Sleep Apnea Syndromes Sleep Disorders, Intrinsic Sleep Wake Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Centre Hospitalier Regional D' Angers, Angers, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Myotonic dystrophy of Steinert genetically confirmed (number of known CTG repeats), in its classical form of adult

Exclusion criteria

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

Treatment and study plan

Primary outcomes

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

Sponsors and collaborators

Lead sponsor

University Hospital, Lille

Other

Registry information

Acronym: Steinert

Important dates

Study start: 2010
Primary completion: 2023
Study completion: 2023
First posted: Dec 4, 2018
Registry last updated: Dec 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed