Limb Girdle Muscular Dystrophy, Type 2INCT03930628
Limb-Girdle Muscular Dystrophy Type 2I in Norway
An observational study of Limb Girdle Muscular Dystrophy, Type 2I and Limb Girdle Muscular Dystrophy, run by University Hospital of North Norway at 1 site in Norway.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Limb Girdle Muscular Dystrophy, Type 2I, Limb Girdle Muscular Dystrophy, Muscular Dystrophies
- How many people
- 106 participants
- Where
- 1 siteNorway
- Study dates
- 6 Jan 2020to Jun 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: The population of limb-girdle muscular dystrophy type 2I genetically confirmed in Norway and who live in Norway.
Who may be able to join
- Genetical confirmed limb-girdle muscular dystrophy type 2I in Norway
- Live in Norway
- Written consent
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study
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.
Read the 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
- Medical subject headings
- Muscular Dystrophy, Limb-Girdle, Type 2I, Muscular Dystrophies, Limb-Girdle, Muscular Dystrophies
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: Retrospective data collection at baseline
Rate of symptom progression
Document the variation in time from disease onset to loss of walking ability
Measured: Retrospective data collection at baseline
Prevalence of recognized cardiomyopathy
The percentage of females and males with recognized cardiomyopathy
Measured: Retrospective data collection at baseline
Prevalence of initiated ventilation support
The percentage of female and males that have initiated ventilation support.
Measured: 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.
Measured: 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.
Measured: Baseline, at 6 months, 1 year
Echocardiography strain speckle-tracking
Measure cardiac function at baseline and changes from baseline at 2 years
Measured: Baseline and 2 years
Nocturnal arterial carbon dioxide (CO2)-level
Monitor transcutaneous CO2 during sleep at baseline.
Measured: Baseline
MRI
Muscle MRI lower limbs
Measured: At 2 years
Secondary outcomes (27)
6 Minute Walk Test (6MWT)
Walk distance in 6 minutes, Borgs scale for dyspnoea and fatigue pre and post test, and for self-reported exertion. Changes from baseline in 6MWT at 2 years
Measured: Baseline (2 tests with 1 day interval) and two years (2 tests with 1 day interval)
4-step stair climb test
Changes from baseline in time to ascend and to descend a 4-steps stair at two years
Measured: Baseline and 2 years
Level of motor independence: "Vignos Grade"
Using "Vignos grade" to score level of motor independence. The score ranges from 1 (walk and climb without assistance) to 10 (confined to bed).
Measured: Baseline and 2 years
Upper limb movement ability: "Brooks Grade"
Using "Brooks Grade" to score the ability to raise arms above the head, ranging from 1 (normal: full abduction until the hands touch above the head) to 6 (cannot raise hands to mouth and has no useful function of hands). Baseline and changes from baseline at two years.
Measured: Baseline and 2 years
Hand held dynamometry
Changes from baseline in muscular strength in the limbs at two years
Measured: Baseline and 2 years
Manual Muscular Testing (MMT)
Changes from baseline in muscular strength in the limbs at two years
Measured: Baseline and 2 years
General health-related quality of life
Using the Norwegian translation of general HRQOL-instrument "Short Form Health Survey" (SF-36). It is a questionnaire with 36 questions (items) investigating 8 domains/dimensions (physical function, physical role limitations, emotional role limitations, social functioning, bodily pain, general health perceptions, vitality, mental health). The 8 domain scores will be determined. The scores range from 0-100 and are based on item-responses and weighting algorithm. High score stands for good health. Measure at baseline and changes from baseline at 6 months, 1 year and 2 years.
Measured: Baseline, 6 months, 1 year
Plethysmography
Lung volumes at baseline, and changes from baseline at two years.
Measured: Baseline and 2 years
Mean Inspiratory and Expiratory Pressure (MIP/MEP)
Static respiratory pressures at baseline, and changes from baseline at two years
Measured: Baseline and 2 years
Forced Vital Capacity (FVC)
Dynamic spirometry while sitting, and supine when normal sitting. Baseline and changes from baseline at 2 years
Measured: Baseline and 2 years
Diaphragm thickness ratio
Using ultrasound to measure thickness of diaphragm at maximum inspiration and at end-expiration. Ratio < 1,2 indicates reduced diaphragm movement. Bott left and right side will be measured.
Measured: Baseline and 2 years
Nocturnal oxygen saturation
Monitor transcutaneous oxygen saturation during sleep.
Measured: Baseline and 2 years
Cough Peak Flow
Cough Peak Flow at baseline and changes from baseline at 2 years
Measured: Baseline and 2 years
Apnea-hypopnea index
Using polysomnography to calculate the number of obstructive and non-obstructive apnea and hypopnea events pr hour sleep.
Measured: Baseline
Respiratory disturbance index
Using polysomnography to calculate the number of respiratory events in terms of apneas, hypopneas and respiratory effort-related arousals pr hour sleep.
Measured: Baseline
Thoracoabdominal breathing pattern during sleep
Using polysomnography to detect paradoxal breathing movements during sleep (abdomen moving in on inspiration when supine).
Measured: Baseline
Echocardiography - conventional
Measure cardiac function at baseline and changes from baseline at 2 years
Measured: Baseline and 2 years
Electrocardiography (ECG)
Assessment of cardiac electrical activity at baseline and changes from baseline at 2 years
Measured: Baseline and 2 years
Pain (visual analogous scale, VAS)
Patient-reported pain on VAS at baseline and at 2 years
Measured: Baseline and 2 years
Fatigue (Visual Analogous Scale, VAS)
Patient-reported fatigue on VAS tat baseline and at 2 years
Measured: Baseline and 2 years
Fatigue Severity Scale (FSS)
Fatigue at baseline and at 2 years
Measured: Baseline and 2 years
Epworth Sleepiness Scale (ESS)
Assessment of daytime sleepiness at baseline
Measured: Baseline
Capillary blood gas
Capillary CO2 at baseline and at 2 years
Measured: Baseline and 2 years
Serum Creatine Kinase (s-CK)
s-CK at baseline and at 2 years
Measured: Baseline
Insomnia
Using Bergen Insomnia Scale to measure insomnia.
Measured: Baseline
Sleep quality
Using Pittsburgh Sleep Quality index to measure sleep quality
Measured: Baseline
Cognitive status
Montreal Cognitive Assessment
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2019
- Study start6 Jan 2020
- Primary completionJun 2023 (estimated)
- Study completionJun 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Limb Girdle Muscular Dystrophy, Type 2IStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 106 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital of North Norway
- Sponsor type
- University, hospital or other
- Collaborators
- University of Tromso, Norwegian Muscle Disease Association (FFM), Norwegian National Adivisory Unit on Rare Disorders, Norwegian Competence Center for Sleep Disorders
- Responsible party
- Sponsor
- Investigators
- Kjell Arne Arntzen, ph.d, Principal investigator, University Hospital of North Norway
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03930628
- Sponsor's protocol ID
- 2018/1968(REK)
- Status last verified
- Nov 2022
- First submitted
- 15 Apr 2019
- Last updated
- 7 Nov 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Nov 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Limb-Girdle Muscular Dystrophy Type 2I in Norway - a Cohort Study
- ClinicalTrials.gov ID
- NCT03930628
- Acronym / sponsor ID
- 2018/1968(REK)
- Conditions
- Limb Girdle Muscular Dystrophy, Type 2I, Limb Girdle Muscular Dystrophy, Muscular Dystrophies, Limb Girdle Muscular Dystrophy R9 FKRP-related
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 106 participants (estimated)
- Lead sponsor
- University Hospital of North NorwayUniversity, hospital or other
- Collaborators
- University of Tromso, Norwegian Muscle Disease Association (FFM), Norwegian National Adivisory Unit on Rare Disorders, Norwegian Competence Center for Sleep Disorders
- Study start
- 6 Jan 2020 (actual)
- Primary completion
- Jun 2023 (estimated)
- Study completion
- Jun 2023 (estimated)
- First posted
- 29 Apr 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The population of limb-girdle muscular dystrophy type 2I genetically confirmed in Norway and who live in Norway.
Key inclusion criteria (3 listed)
- Genetical confirmed limb-girdle muscular dystrophy type 2I in Norway
- Live in Norway
- Written consent
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Echo intensity of muscles
Time frame: Baseline and 2 years
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.
Muscle thickness
Time frame: Baseline and 2 years
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.
Age at important disease stages
Time frame: Retrospective data collection at baseline
Document the variation in age of onset, age of loss of walking ability, age of established cardiac failure and age of established respiratory failure.
Rate of symptom progression
Time frame: Retrospective data collection at baseline
Document the variation in time from disease onset to loss of walking ability
Prevalence of recognized cardiomyopathy
Time frame: Retrospective data collection at baseline
The percentage of females and males with recognized cardiomyopathy
Prevalence of initiated ventilation support
Time frame: Retrospective data collection at baseline
The percentage of female and males that have initiated ventilation support.
Motor task performance
Time frame: Baseline and 2 years
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.
Disease-specific health-related quality of life (HRQOL)
Time frame: Baseline, at 6 months, 1 year
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.
Echocardiography strain speckle-tracking
Time frame: Baseline and 2 years
Measure cardiac function at baseline and changes from baseline at 2 years
Nocturnal arterial carbon dioxide (CO2)-level
Time frame: Baseline
Monitor transcutaneous CO2 during sleep at baseline.
MRI
Time frame: At 2 years
Muscle MRI lower limbs
27 secondary outcomes
6 Minute Walk Test (6MWT)
Time frame: Baseline (2 tests with 1 day interval) and two years (2 tests with 1 day interval)
4-step stair climb test
Time frame: Baseline and 2 years
Level of motor independence: "Vignos Grade"
Time frame: Baseline and 2 years
Upper limb movement ability: "Brooks Grade"
Time frame: Baseline and 2 years
Hand held dynamometry
Time frame: Baseline and 2 years
Manual Muscular Testing (MMT)
Time frame: Baseline and 2 years
General health-related quality of life
Time frame: Baseline, 6 months, 1 year
Plethysmography
Time frame: Baseline and 2 years
Mean Inspiratory and Expiratory Pressure (MIP/MEP)
Time frame: Baseline and 2 years
Forced Vital Capacity (FVC)
Time frame: Baseline and 2 years
Diaphragm thickness ratio
Time frame: Baseline and 2 years
Nocturnal oxygen saturation
Time frame: Baseline and 2 years
Cough Peak Flow
Time frame: Baseline and 2 years
Apnea-hypopnea index
Time frame: Baseline
Respiratory disturbance index
Time frame: Baseline
Thoracoabdominal breathing pattern during sleep
Time frame: Baseline
Echocardiography - conventional
Time frame: Baseline and 2 years
Electrocardiography (ECG)
Time frame: Baseline and 2 years
Pain (visual analogous scale, VAS)
Time frame: Baseline and 2 years
Fatigue (Visual Analogous Scale, VAS)
Time frame: Baseline and 2 years
Fatigue Severity Scale (FSS)
Time frame: Baseline and 2 years
Epworth Sleepiness Scale (ESS)
Time frame: Baseline
Capillary blood gas
Time frame: Baseline and 2 years
Serum Creatine Kinase (s-CK)
Time frame: Baseline
Insomnia
Time frame: Baseline
Sleep quality
Time frame: Baseline
Cognitive status
Time frame: Baseline
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Nov 2022.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kjell Arne Arntzen, ph.d principal investigator
University Hospital of North Norway
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Limb Girdle Muscular Dystrophy, Type 2I and Limb Girdle Muscular Dystrophy, run by University Hospital of North Norway at 1 site in Norway.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 7 Nov 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Norway. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Echo intensity of muscles (time frame: Baseline and 2 years). The study lists 11 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Nov 2022.