Breathlessness Assessment in Adult Patients With Myotonic Dystrophy Type 1

Completed

• Conditions: Myotonic Dystrophy Type 1 (DM1)
• Interventions: Other: Dyspnea

• Registration Number: NCT04835298
• Lead Sponsor: CHU de Reims

Brief Summary

Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases in adults. As respiratory dysfunction is the most common cause of death in patients with DM1, a respiratory disease progression must be monitored combining symptom screening and respiratory function testing, in order to identify the appropriate time to initiate non invasive ventilation (NIV).

Dyspnea, one of the main respiratory symptoms, has been little studied in patients with DM1.

The main objective of this study is to provide the first multidimensional description of dyspnea in patients with DM1.

The secondary objectives are:

* To compare respiratory symptoms according to the presence or not of criteria from respiratory function testing to initiate NIV

* To assess associations between dyspnea and respiratory function testing

* To assess associations between dyspnea and number of Cytosine Thymine Guanine (CTG) repeats

* To assess associations between dyspnea and muscular strength

* To assess associations between dyspnea and BMI

* To assess associations between dyspnea and anxiety or depression

* To assess associations between dyspnea and cognitive impairment

* To assess associations between dyspnea and quality of life.

Detailed Description

Not available

Study Timeline

• Study Start: 2020-07-03
• Study First Submitted: 2021-03-31
• Study First Submitted QC: 2021-04-06
• Study First Posted: 2021-04-08
• Primary Completion: 2021-07-20
• Status Verified: 2022-06
• Study Completion: 2022-06-14
• Last Update Submitted: 2022-06-14
• Last Update Posted: 2022-06-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 34

Inclusion Criteria

• patient with myotonic dystrophy type 1 confirmed by genetic analysis
• with an age older than 18 years

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Exclusion Criteria

• an ongoing or recent (i.e. within the last 4 weeks prior to study recruitment) medical condition, including pulmonary exacerbations
• patient already under non-invasive mechanical ventilation

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Myotonic dystrophy type 1	Dyspnea	adult patients with myotonic dystrophy type 1

Primary Outcome Measures

Name	Time	Method
Dyspnea	Month 6	Borg scale at rest and after 6 minute walking test

Trial Locations

Locations (1)

Chu Reims; 🇫🇷 Reims, France