Breathlessness Assessment in Adult Patients With Myotonic Dystrophy Type 1

NCT04835298 | Completed

• 1 other identifier: PO20065*
• Study Type: observational
• Target: 34
• Locations: 1 country
• Sites: 1

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.

Conditions

Myotonic Dystrophy Type 1 (DM1)

Outcome Measures

Primary Outcomes (1)

• Dyspnea

  Borg scale at rest and after 6 minute walking test

  Month 6

Study Arms (1)

Myotonic dystrophy type 1

adult patients with myotonic dystrophy type 1

Other: Dyspnea

Interventions

Dyspnea OTHER

questionnaires

Myotonic dystrophy type 1

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

adult patients with myotonic dystrophy type 1

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• CHU de Reims: lead

Study Sites (1)

Chu Reims

Reims, 51092, France

Location

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 31, 2021
• First Posted: April 8, 2021
• Study Start: July 3, 2020
• Primary Completion: July 20, 2021
• Study Completion: June 14, 2022
• Last Updated: June 15, 2022

Record last verified: 2022-06

Locations

FR (1)