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

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 Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy, Steinert

• Study Type: Observational
• Enrollment (Anticipated): 160

Contacts and Locations

• Study Contact: Name: Thierry Perez, MD; Email: thierry.perez@chru-lille.fr

Study Locations

• France
  • Angers, France
    • Recruiting
    • Centre Hospitalier Regional D' Angers
  • Garches, France
    • Recruiting
    • Ap-Hp Hu Paris Site Raymond Poincare
  • Lille, France
    • Recruiting
    • Hôpital Calmette, CHRU
    • Principal Investigator: Thierry PEREZ, md
  • Montpellier, France
    • Recruiting
    • CHU Montpellier
  • Nantes, France
    • Recruiting
    • Chu de Nantes :Site Hôtel-Dieu- Hme - Nantes 1
  • Paris, France
    • Recruiting
    • Ap-Hp Hu Pitie Salpetriere

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

patient with a myotonic dystrophy of Steinert who consults in pneumology and who will have Respiratory functional exploration

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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 the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change of measurement of spirometry	composite predictive factors of alveolar hypoventilation	every year during 5 years
Change respiratory force	composite predictive factors of alveolar hypoventilation to change Inspiratory and expiratory force	every year during 5 years
Change CO2 response (Read test)	composite predictive factors of alveolar hypoventilation	every year during 5 years
Change subjective sleepiness (Epworth)	composite predictive factors of alveolar hypoventilation	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	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.	every year during 5 years
change Oximetry	composite predictive factors of alveolar hypoventilation	every year during 5 years

Collaborators and Investigators

• Sponsor: University Hospital, Lille
• Investigators: Principal Investigator: Thierry PEREZ, MD, University Hospital, Lille

Study record dates

Study Major Dates

• Study Start (ACTUAL): June 30, 2010
• Primary Completion (ANTICIPATED): September 1, 2023
• Study Completion (ANTICIPATED): September 1, 2023

Study Registration Dates

• First Submitted: November 19, 2018
• First Submitted That Met QC Criteria: December 3, 2018
• First Posted (ACTUAL): December 4, 2018

Study Record Updates

• Last Update Posted (ACTUAL): January 7, 2021
• Last Update Submitted That Met QC Criteria: January 6, 2021
• Last Verified: January 1, 2021

More Information

Terms related to this study

• Keywords: non invasive ventilation; Muscular Diseases; Sleep Apnea Syndrome; Diaphragmatic Disorder
• Additional Relevant MeSH Terms: Nervous System Diseases; Respiratory Tract Diseases; Respiration Disorders; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Signs and Symptoms, Respiratory; Muscular Disorders, Atrophic; Heredodegenerative Disorders, Nervous System; Respiratory Insufficiency; Muscular Dystrophies; Myotonic Disorders; Myotonic Dystrophy; Hypoventilation
• Other Study ID Numbers: 2009_04/0923; 2009-A00588-49 (OTHER: ID-RCB number, ANSM)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No