Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients

NCT01242007 | Completed DMC

• 1 other identifier: UNBC-11102010
• Study Type: interventional
• Target: 58
• Locations: 1 country
• Sites: 1

Brief Summary

Myotonic dystrophy Type 1 (MD1, Steinert's disease), an autosomal dominant multisystem disease, is of the most common muscular dystrophies in adults, with a European prevalence of 3-15/100 000. The disease course is progressive, associating muscular weakness, wasting and myotonia. Respiratory dysfunction is common, involving a restrictive ventilatory abnormality and alveolar hypoventilation, originating from respiratory muscle weakness. Depending on the degree of impairment of their lung function, the quality of life and the prognosis of MD1 patients may be very variable. However, time course and prevalence of such respiratory function impairment have not been clearly identified. More importantly, factors able to predict poor respiratory outcome have not been defined and therefore early prognosis can not be assessed during the follow-up of these patients. In other neuromuscular disorders, especially Amyotrophic Lateral Sclerosis (ALS), postural spirometry has been recommended to improve the detection of diaphragmatic involvement and some authors have suggested that the supine fall in the forced vital capacity could be used to initiate noninvasive positive pressure ventilation and predicts some respiratory symptoms. In a sample of ambulatory patients with MD1, our study was designed to prospectively achieve two aims: 1) to assess the respective prevalence of a ventilatory restrictive pattern, respiratory muscle weakness, hypoxemia and hypercapnia and 2) to evaluate whether postural changes in lung volumes contribute to sensitize the diagnosis of respiratory weakness and could be used as a predictor of poor respiratory function, including hypoxemia, hypercapnia and restrictive ventilatory disease.

Conditions

Myotonic Dystrophy

Keywords

Myotonic dystrophy; Steinert's disease

Outcome Measures

Primary Outcomes (1)

• Evidence of lung function impairment

  Evidence of ventilatory restriction assessed by lung function testing or hypoxemia or hypercapnia assessed by arterial blood gases analysis

  1 year on average (annual regular follow-up)

Secondary Outcomes (1)

• predictive factors of lung function impairment

  1 year on average (annual regular follow-up)

Interventions

Supine spirometry OTHER

In addition to the current upright lung function evaluation we performed a supine spirometry

Also known as: Supine lung function testing

Eligibility Criteria

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

You may qualify if:

• clinical diagnosis of myotonic dystrophy type 1
• years of age and older
• must be able to perform reproducible ventilatory manoeuvres

You may not qualify if:

• required non-invasive ventilation
• non reproducible spirometry results

Sponsors & Collaborators

• University of Nancy: lead
• Central Hospital, Nancy, France: collaborator

Study Sites (1)

University Hospital of Nancy

Vandœuvre-lès-Nancy, 54511, 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 Officials

• Bruno Chenuel, MD, PhD

  University of Nancy

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: November 15, 2010
• First Posted: November 16, 2010
• Study Start: April 1, 2008
• Primary Completion: June 1, 2010
• Study Completion: June 1, 2010
• Last Updated: November 16, 2010

Record last verified: 2010-11

Locations

FR (1)