Limb-Girdle Muscular Dystrophy Type 2I in Norway

University Hospital of North Norway

Status: Active, not recruiting

Conditions: Limb Girdle Muscular Dystrophy, Type 2I; Limb Girdle Muscular Dystrophy R9 FKRP-related; Muscular Dystrophies; Limb Girdle Muscular Dystrophy

Study type: Observational

Funder types: Other

Identifiers

NCT03930628

2018/1968(REK)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 106 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Genetical confirmed limb-girdle muscular dystrophy type 2I in Norway
• Live in Norway
• Written consent

Exclusion criteria

• Children < 16 years are excluded from the assessment of quality of life and from the clinical/paraclinical part, but may contribute with information through questionnaires and patient journal.

The study of prevalence and genotypes is anonymous and consent independent and will include everyone that is genetically LGMD 2I-confirmed in Norway.