Clinical trial NCT03930628: Limb-Girdle Muscular Dystrophy Type 2I in Norway
Official title: Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Limb Girdle Muscular Dystrophy, Type 2I
Limb Girdle Muscular Dystrophy
Muscular Dystrophies
Limb Girdle Muscular Dystrophy R9 FKRP-related
Lead sponsor: University Hospital of North Norway
Sponsor class: OTHER
Collaborators: name: University of Tromso
name: Norwegian Muscle Disease Association (FFM)
name: Norwegian National Advisory Unit on Rare Disorders (NKSD)
name: Norwegian Competence Center for Sleep Disorders
First posted: 2019-04-29
Enrollment: 106
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The population of limb-girdle muscular dystrophy type 2I genetically confirmed in Norway and who live in Norway.

Brief 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Echo intensity of muscles
timeFrame: Baseline and 2 years
measure: Muscle thickness
timeFrame: Baseline and 2 years
measure: Age at important disease stages
timeFrame: Retrospective data collection at baseline
measure: Rate of symptom progression
timeFrame: Retrospective data collection at baseline
measure: Prevalence of recognized cardiomyopathy
timeFrame: Retrospective data collection at baseline
measure: Prevalence of initiated ventilation support
timeFrame: Retrospective data collection at baseline
measure: Motor task performance
timeFrame: Baseline and 2 years
measure: Disease-specific health-related quality of life (HRQOL)
timeFrame: Baseline, at 6 months, 1 year
measure: Echocardiography strain speckle-tracking
timeFrame: Baseline and 2 years
measure: Nocturnal arterial carbon dioxide (CO2)-level
timeFrame: Baseline
measure: MRI
timeFrame: At 2 years
Secondary outcomes:
measure: 6 Minute Walk Test (6MWT)
timeFrame: Baseline (2 tests with 1 day interval) and two years (2 tests with 1 day interval)
measure: 4-step stair climb test
timeFrame: Baseline and 2 years
measure: Level of motor independence: "Vignos Grade"
timeFrame: Baseline and 2 years
measure: Upper limb movement ability: "Brooks Grade"
timeFrame: Baseline and 2 years
measure: Hand held dynamometry
timeFrame: Baseline and 2 years
measure: Manual Muscular Testing (MMT)
timeFrame: Baseline and 2 years
measure: General health-related quality of life
timeFrame: Baseline, 6 months, 1 year
measure: Plethysmography
timeFrame: Baseline and 2 years
measure: Mean Inspiratory and Expiratory Pressure (MIP/MEP)
timeFrame: Baseline and 2 years
measure: Forced Vital Capacity (FVC)
timeFrame: Baseline and 2 years
measure: Diaphragm thickness ratio
timeFrame: Baseline and 2 years
measure: Nocturnal oxygen saturation
timeFrame: Baseline and 2 years
measure: Cough Peak Flow
timeFrame: Baseline and 2 years
measure: Apnea-hypopnea index
timeFrame: Baseline
measure: Respiratory disturbance index
timeFrame: Baseline
measure: Thoracoabdominal breathing pattern during sleep
timeFrame: Baseline
measure: Echocardiography - conventional
timeFrame: Baseline and 2 years
measure: Electrocardiography (ECG)
timeFrame: Baseline and 2 years
measure: Pain (visual analogous scale, VAS)
timeFrame: Baseline and 2 years
measure: Fatigue (Visual Analogous Scale, VAS)
timeFrame: Baseline and 2 years
measure: Fatigue Severity Scale (FSS)
timeFrame: Baseline and 2 years
measure: Epworth Sleepiness Scale (ESS)
timeFrame: Baseline
measure: Capillary blood gas
timeFrame: Baseline and 2 years
measure: Serum Creatine Kinase (s-CK)
timeFrame: Baseline
measure: Insomnia
timeFrame: Baseline
measure: Sleep quality
timeFrame: Baseline
measure: Cognitive status
timeFrame: Baseline
Other outcomes:
Locations:
city: Tromsø
country: Norway
facility: National Neuromuscular Centre, Norway
Study officials:
affiliation: University Hospital of North Norway
name: Kjell Arne Arntzen, ph.d
role: PRINCIPAL_INVESTIGATOR
References: