Limb-Girdle Muscular Dystrophy Type 2I in Norway

Status Active, not recruiting

Clinical Trial Summary

Key goals are to establish the natural history of limb-girdle muscular dystrophy type 2I (LGMD 2I) and identify feasible and sensitive tools and biomarkers to measure disease affection and progression, determine the Norwegian LGMD 2I prevalence, carrier frequency and genotypes, and to assess health-related quality of life in the Norwegian LGMD 2I population. Main aims are to facilitate future clinical trials and contribute to good clinical practice with suitable methodology and to complete health and social care in order to optimize the function and quality of daily living of the patient group.

Clinical Trial Description

A single-center study with Norwegian nationwide enrollment. Data is based on questionnaires, patient journals, clinical examination, a set of functional tests and biomarkers, and patient reported outcomes. Clinical/ paraclinical tests are repeated after 2-years in order to measure disease progression. Both skeletal muscle, heart and respiratory function will be examined. At baseline there will also be performed a sleep study in order to find if they are prone to sleep-disordered breathing. ;

Study Design

Related Conditions & MeSH terms

Limb Girdle Muscular Dystrophy
Limb Girdle Muscular Dystrophy, Type 2I
Muscular Dystrophies

Clinical Trial Details

NCT number	NCT03930628
Study type	Observational
Source	University Hospital of North Norway
Contact
Status	Active, not recruiting
Phase
Start date	January 6, 2020
Completion date	June 2023

View Details

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