Trials / Unknown
UnknownNCT03930628
Limb-Girdle Muscular Dystrophy Type 2I in Norway
Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 106 (estimated)
- Sponsor
- University Hospital of North Norway · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
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.
Detailed 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.
Conditions
- Limb Girdle Muscular Dystrophy, Type 2I
- Limb Girdle Muscular Dystrophy
- Muscular Dystrophies
- Limb Girdle Muscular Dystrophy R9 FKRP-related
Timeline
- Start date
- 2020-01-06
- Primary completion
- 2023-06-01
- Completion
- 2023-06-01
- First posted
- 2019-04-29
- Last updated
- 2022-11-07
Locations
1 site across 1 country: Norway
Source: ClinicalTrials.gov record NCT03930628. Inclusion in this directory is not an endorsement.