Limb-Girdle Muscular Dystrophy Type 2I in Norway

NCT03930628 | Unknown

• 1 other identifier: 2018/1968(REK)
• Study Type: observational
• Target: 106
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (11)

• Echo intensity of muscles

  Change in echo intensity at a defined cross-sectional level in muscles in limbs, musculus rectus abdominis and paraspinal muscles from baseline at 2 years. Echo intensity is measured as grayscale pixels ranging from 0 (black) to 255 (white) through histogram analysis by an ultrasound software program. It calculates the mean value from the superficial 1/3 of a manually selected region of interest in three consecutive images from same location. Increase in echo intensity indicates increase in pathology.

  Baseline and 2 years

• Muscle thickness

  Using ultrasound to measure changes in muscle thickness at a defined cross-sectional level in muscles in limbs, musculus rectus abdominis and paraspinal muscles from baseline at 2 years.

  Baseline and 2 years

• Age at important disease stages

  Document the variation in age of onset, age of loss of walking ability, age of established cardiac failure and age of established respiratory failure.

  Retrospective data collection at baseline

• Rate of symptom progression

  Document the variation in time from disease onset to loss of walking ability

  Retrospective data collection at baseline

• Prevalence of recognized cardiomyopathy

  The percentage of females and males with recognized cardiomyopathy

  Retrospective data collection at baseline

• Prevalence of initiated ventilation support

  The percentage of female and males that have initiated ventilation support.

  Retrospective data collection at baseline

• Motor task performance

  Using the standardised scoring instrument "Motor Function Measure for neuromuscular diseases" (MFM) to measure the ability to perform 32 different motor tasks. The individual item score ranges from 0 (cannot initiate the task) to 3 (performs fully and normally). The items are divided into 3 domains: 1) Standing and transfers (13 tasks), 2) Axial and proximal motor function (12 tasks), 3) Distal motor function (7 tasks). The 3 domains give rise to 3 subscores. Both subscores and total score (0-96 points) will be measured. Baseline and changes from baseline at two years.

  Baseline and 2 years

• Disease-specific health-related quality of life (HRQOL)

  Using the "Individualized Neuromuscular Quality of Life" (INQOL)-questionnaire to measure the burden of disease. It consists of 45 items. Each item is graded by a 7-point Likert scale (0-6/1-7).The 45 items make up 3 dimensions/domains: muscular symptoms, effects on life-domains (activities, independence, emotions, body image, social relationships) and effects of treatment. The 3 domains are together subdivided into 11 subdimensions, each with its own subscale. In addition there is a QOL-score which is a composite score from the "Life-domain". The scores range from 0-100 and are determined by the item responses and a weighting algorithm. The higher the scores, the more negative impact. Both subscales and QOL-score will be determined - at baseline and changes from baseline at 6 months, 1 year and 2 years.

  Baseline, at 6 months, 1 year

• Echocardiography strain speckle-tracking

  Measure cardiac function at baseline and changes from baseline at 2 years

  Baseline and 2 years

• Nocturnal arterial carbon dioxide (CO2)-level

  Monitor transcutaneous CO2 during sleep at baseline.

  Baseline

• MRI

  Muscle MRI lower limbs

  At 2 years

Secondary Outcomes (27)

• 6 Minute Walk Test (6MWT)

  Baseline (2 tests with 1 day interval) and two years (2 tests with 1 day interval)

• 4-step stair climb test

  Baseline and 2 years

• Level of motor independence: "Vignos Grade"

  Baseline and 2 years

• Upper limb movement ability: "Brooks Grade"

  Baseline and 2 years

• Hand held dynamometry

  Baseline and 2 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University Hospital of North Norway: lead
• University of Tromso: collaborator
• Norwegian Muscle Disease Association (FFM): collaborator
• Norwegian National Advisory Unit on Rare Disorders (NKSD): collaborator
• Norwegian Competence Center for Sleep Disorders: collaborator

Study Sites (1)

National Neuromuscular Centre, Norway

Tromsø, 9038, Norway

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Serum

MeSH Terms

Conditions

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

Condition Hierarchy (Ancestors)

Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Kjell Arne Arntzen, ph.d

  University Hospital of North Norway

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 15, 2019
• First Posted: April 29, 2019
• Study Start: January 6, 2020
• Primary Completion: June 1, 2023
• Study Completion: June 1, 2023
• Last Updated: November 7, 2022

Record last verified: 2022-11

Data Sharing

• IPD Sharing: Will not share

Locations

NO (1)