Back to resultsChanges of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment (COMPIS)
Primary Purpose
Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases
Status
Enrolling by invitation
Phase
Not Applicable
Locations
Sweden
Study Type
Interventional
Intervention
Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet
Salbutamol Only Product in Oral Dose Form
Sponsored by
About this trial
This is an interventional treatment trial for Congenital Myopathy focused on measuring oral salbutamol, motor function measure 32
Eligibility Criteria
Inclusion Criteria:
- Signed informed consent from legal guardians/patients and patient (where applicable)
Subject must have a confirmed congenital myopathy(CM) diagnosis defined as:
- Clinical symptoms consistent with CM with pathohistological findings on muscle biopsy and known genetic mutation consistent with CM OR
- Clinical symptoms consistent with CM with unspecific pathohistological changes but known genetic mutation consistent with CM
- Stabile motor function tests over at least 6 months (between baseline and screening)
- If on other medications- stabile dose for at least 6 months prior to start
- At least 1 point on Motor function measure 32 test is (MFM32) at screening visit.
>5- <31 years of age (from 6 years to 30 years of age)
- Women of fertile age must be on oral contraceptives
- Underwent cardiac evaluation with ECG and 2D echocardiography in the last 2 years and has no signs or symptoms of cardiac abnormality.
Exclusion Criteria:
- Subject with clinical symptoms consistent with CM but has no confirmed genetic mutation and only unspecific changes on muscle biopsy that are not confined to just CM but can be seen in other disorders.
- Younger than 6 years of age and older than 30 years
- Subject receives 94 or more points on MFM32 test at screening visit.
- Subject doesn't not speak Swedish and a translator is needed in order to perform the tests included in the study.
- Subject smokes more than 10 cigarettes a day or has smoked more than 10 cigarettes in the last year
- Subject has tracheostomy
- Subject receives no points on motor function measure test at screening
- Subject has other concomitant chronic diagnosis that can affect the patients motor function, in the opinion of the investigator
- Subject is currently or has been on oral corticosteroids in the last 6 months
- Subject has arrhythmia as seen on electrocardiogram(ECG), confirmed by cardiologist
- Subject has cardiomyopathy as seen on ultrasound, confirmed by cardiologist
- Subject has severe behavioural and/ cognitive problems that preclude participation in the study, in the opinion of the investigator
- Subject is allergic or hypersensitive to study drug or any of its constituents
- Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow- up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator;
- Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study medication
- Subject is planning on participating in any other study during the duration of this study.
- Female subjects of fertile age that are or are planning to become pregnant during the study.
- Female subjects that have given birth up to 1 year prior to baseline visit and/or are nursing up to 1 month prior of baseline visit
- Subject has a fracture in the last 6 months before the study start or has acquired a fracture during the study.
Sites / Locations
- Sahlgrenska university hospital
Arms of the Study
Arm 1
Arm 2
Arm Type
Active Comparator
No Intervention
Arm Label
Treatment
Non treatment
Arm Description
congenital myopathy patients in this group will receive daily oral salbutamol, three times daily.
Congenital myopathy patients in this group will not receive any salbutamol nor placebo.
Outcomes
Primary Outcome Measures
Motor function measure test 32 (MFM32)
score presented as a total score from 0 to 96 points, the higher the score the better motor function
Secondary Outcome Measures
timed function tests
seconds
6 minute walk test
meters/minute for speed calculation, as well as total distance walked.
hand grip test
measured in pounds
5 consecutive 9 hole PEG test
measured in seconds
muscle myometry test using a hand held myometer
measured in newtons
Activity limitation ACTIVLIM- quality of life questionnaire
measured as total score, 0-32 max points, the higher the score the less the limitation in activities
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT05099107
Brief Title
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
Acronym
COMPIS
Official Title
COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol
Study Type
Interventional
2. Study Status
Record Verification Date
May 2023
Overall Recruitment Status
Enrolling by invitation
Study Start Date
October 25, 2021 (Actual)
Primary Completion Date
December 31, 2025 (Anticipated)
Study Completion Date
December 31, 2025 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Vastra Gotaland Region
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Product Manufactured in and Exported from the U.S.
No
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
Congenital myopathies (CM) is a large group of muscle disorders, presenting with hypotonia and non-progressive generalised muscle weakness, which can lead to motor developmental delay.More than 20 genes can cause CM and currently there is no curative treatment for this disorder.
Case reports and a smaller study have previous reported that oral salbutamol has benefited subjects with different types of congenital myopathies by increasing their muscle strength.The exact effect of salbutamol in muscle cells isn't exactly known but it has been hypothesized to have an anabolic effect by triggering different pathways inside the muscle cells which increase cell proliferation, decrease apoptosis, decreases proteolysis and increases protein synthesis.
The aim of our study is evaluate if daily oral salbutamol can increase the muscle function and muscle strength in these patients after 6 months on treatment, compared to no treatment.
Detailed Description
We hypothesise that congenital myopathy subjects treated with daily oral salbutamol will increase in their motor function measure 32 test (MFM32) with at least 3 points after 6 months of treatment as compared to no treatment. We have calculated that a sample size of 20 subjects is needed for this study.
Congenital myopathy subjects will be recruited from the whole of Sweden and the study will be performed at the Sahlgrenska university hospital in Gothenburg Sweden.
The subjects must have clinical symptoms consistent with congenital myopathy and have a verified mutation in a gene known to cause congenital myopathy.
After a screening period of 6 months the eligible subjects will be randomised into two groups, group A and group B . During period 1, group A will receive oral salbutamol 3 times daily and the group B will have no treatment.They will be evaluated after 6 months. Then after a washout period of 1 month, Period 2 will begin where the groups will cross-over, i.e group A will have no treatment and group B will receive oral salbutamol 3 times daily.
In total each subject will be evaluated 5 times during 19 months with the same battery of muscle function and strength tests performed each time.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases, Nemaline Myopathy, Centronuclear Myopathy, Myosin Storage Myopathy
Keywords
oral salbutamol, motor function measure 32
7. Study Design
Primary Purpose
Treatment
Study Phase
Not Applicable
Interventional Study Model
Crossover Assignment
Masking
Outcomes Assessor
Allocation
Randomized
Enrollment
20 (Anticipated)
8. Arms, Groups, and Interventions
Arm Title
Treatment
Arm Type
Active Comparator
Arm Description
congenital myopathy patients in this group will receive daily oral salbutamol, three times daily.
Arm Title
Non treatment
Arm Type
No Intervention
Arm Description
Congenital myopathy patients in this group will not receive any salbutamol nor placebo.
Intervention Type
Drug
Intervention Name(s)
Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet
Other Intervention Name(s)
Ventolin tablet
Intervention Description
taken 3 times daily for 6 months
Intervention Type
Drug
Intervention Name(s)
Salbutamol Only Product in Oral Dose Form
Other Intervention Name(s)
Ventolin oral syrup
Intervention Description
taken 3 times daily for 6 months
Primary Outcome Measure Information:
Title
Motor function measure test 32 (MFM32)
Description
score presented as a total score from 0 to 96 points, the higher the score the better motor function
Time Frame
19 months
Secondary Outcome Measure Information:
Title
timed function tests
Description
seconds
Time Frame
5 evaluations in 19 months
Title
6 minute walk test
Description
meters/minute for speed calculation, as well as total distance walked.
Time Frame
5 evaluations in 19 months
Title
hand grip test
Description
measured in pounds
Time Frame
5 evaluations in 19 months
Title
5 consecutive 9 hole PEG test
Description
measured in seconds
Time Frame
5 evaluations in 19 months
Title
muscle myometry test using a hand held myometer
Description
measured in newtons
Time Frame
5 evaluations in 19 months
Title
Activity limitation ACTIVLIM- quality of life questionnaire
Description
measured as total score, 0-32 max points, the higher the score the less the limitation in activities
Time Frame
5 evaluations in 19 months
10. Eligibility
Sex
All
Minimum Age & Unit of Time
6 Years
Maximum Age & Unit of Time
30 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Signed informed consent from legal guardians/patients and patient (where applicable)
Subject must have a confirmed congenital myopathy(CM) diagnosis defined as:
Clinical symptoms consistent with CM with pathohistological findings on muscle biopsy and known genetic mutation consistent with CM OR
Clinical symptoms consistent with CM with unspecific pathohistological changes but known genetic mutation consistent with CM
Stabile motor function tests over at least 6 months (between baseline and screening)
If on other medications- stabile dose for at least 6 months prior to start
At least 1 point on Motor function measure 32 test is (MFM32) at screening visit.
>5- <31 years of age (from 6 years to 30 years of age)
Women of fertile age must be on oral contraceptives
Underwent cardiac evaluation with ECG and 2D echocardiography in the last 2 years and has no signs or symptoms of cardiac abnormality.
Exclusion Criteria:
Subject with clinical symptoms consistent with CM but has no confirmed genetic mutation and only unspecific changes on muscle biopsy that are not confined to just CM but can be seen in other disorders.
Younger than 6 years of age and older than 30 years
Subject receives 94 or more points on MFM32 test at screening visit.
Subject doesn't not speak Swedish and a translator is needed in order to perform the tests included in the study.
Subject smokes more than 10 cigarettes a day or has smoked more than 10 cigarettes in the last year
Subject has tracheostomy
Subject receives no points on motor function measure test at screening
Subject has other concomitant chronic diagnosis that can affect the patients motor function, in the opinion of the investigator
Subject is currently or has been on oral corticosteroids in the last 6 months
Subject has arrhythmia as seen on electrocardiogram(ECG), confirmed by cardiologist
Subject has cardiomyopathy as seen on ultrasound, confirmed by cardiologist
Subject has severe behavioural and/ cognitive problems that preclude participation in the study, in the opinion of the investigator
Subject is allergic or hypersensitive to study drug or any of its constituents
Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow- up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator;
Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study medication
Subject is planning on participating in any other study during the duration of this study.
Female subjects of fertile age that are or are planning to become pregnant during the study.
Female subjects that have given birth up to 1 year prior to baseline visit and/or are nursing up to 1 month prior of baseline visit
Subject has a fracture in the last 6 months before the study start or has acquired a fracture during the study.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Niklas Darin, M.D
Organizational Affiliation
Västra götalands region
Official's Role
Principal Investigator
Facility Information:
Facility Name
Sahlgrenska university hospital
City
Gothenburg
State/Province
Västra Götaland
ZIP/Postal Code
41650
Country
Sweden
12. IPD Sharing Statement
Plan to Share IPD
Yes
IPD Sharing Plan Description
all individual participant data(IPD) that underlie results in a publication
IPD Sharing Time Frame
The data will be available starting 6 months after publication
Learn more about this trial
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
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