Congenital MyopathyCOMPISNCT05099107
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
A study testing Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet and Salbutamol Only Product in Oral Dose Form in people with Congenital Myopathy and Neuromuscular Diseases, run by Vastra Gotaland Region at 1 site in Sweden.
Trial 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. Read more about this study
- Who is it for?
- Ages 6 to 30 years
- Conditions the study is for
- Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases
- What is being tested?
- Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet and Salbutamol Only Product in Oral Dose Form
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 18 participants
- Where
- 1 siteSweden
- Study dates
- 25 Oct 2021to 17 Mar 2025
- Phase
- Interventional
- 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 6 to 30 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Show all 10Show fewer
- 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.
Who cannot join
- 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
Show all 19Show fewer
- 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.
Trial locations and contacts
1 site in 1 country.
Sweden1 site
Sahlgrenska university hospital
Gothenburg, Västra Götaland County, 41650
About this study
Official title: COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol
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.
Read the 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 18 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.
- Conditions
- Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases, Nemaline Myopathy, Centronuclear Myopathy, Myosin Storage Myopathy
- Being tested
- Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet, Salbutamol Only Product in Oral Dose Form
- Keywords
- oral salbutamol, motor function measure 32
- Medical subject headings
- Myotonia Congenita, Neuromuscular Diseases, Musculoskeletal Diseases, Myopathies, Nemaline, Myopathies, Structural, Congenital, Muscular Dystrophy, Emery-Dreifuss
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Salbutamol (as Salbutamol Sulfate) 2 Mg Oral TabletDrug
Also called Ventolin tablet
taken 3 times daily for 6 months
Salbutamol Only Product in Oral Dose FormDrug
Also called Ventolin oral syrup
taken 3 times daily for 6 months
| Study group | Role | What they receive |
|---|---|---|
| Treatment | Active comparator | congenital myopathy patients in this group will receive daily oral salbutamol, three times daily. Receives: Drug: Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet; Drug: Salbutamol Only Product in Oral Dose Form |
| Non treatment | No intervention | Congenital myopathy patients in this group will not receive any salbutamol nor placebo. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 19 months
Secondary outcomes (6)
timed function tests
seconds
Measured: 5 evaluations in 19 months
6 minute walk test
meters/minute for speed calculation, as well as total distance walked.
Measured: 5 evaluations in 19 months
hand grip test
measured in pounds
Measured: 5 evaluations in 19 months
5 consecutive 9 hole PEG test
measured in seconds
Measured: 5 evaluations in 19 months
muscle myometry test using a hand held myometer
measured in newtons
Measured: 5 evaluations in 19 months
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
Measured: 5 evaluations in 19 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Oct 2021
- Study start25 Oct 2021
- Primary completion17 Mar 2025
- Study completion17 Mar 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Congenital MyopathyStudies of the same condition, open and under way.
- More trials run by Vastra Gotaland RegionThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Single blind
- Who is masked
- Outcomes assessor
- Enrolment
- 18 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vastra Gotaland Region
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Niklas Darin, M.D, Principal investigator, Vastra Gotaland Region
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05099107
- Sponsor's protocol ID
- COMPIS
- Other IDs
- 2019-001147-51, 2019
- Acronym
- COMPIS
- Status last verified
- Mar 2025
- First submitted
- 15 Oct 2021
- Last updated
- 19 Jun 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: all individual participant data(IPD) that underlie results in a publication
Study at a glance
From the registry record, last updated by the sponsor on 19 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- COMPIS- Congenital Myopathy Intervention Study. An Open-label, Cross Over, Randomised, Controlled Study Using Oral Salbutamol
- ClinicalTrials.gov ID
- NCT05099107
- Acronym / sponsor ID
- COMPIS / COMPIS
- Conditions
- Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases, Nemaline Myopathy, Centronuclear Myopathy, Myosin Storage Myopathy
- Keywords
- oral salbutamol, motor function measure 32
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 18 participants (actual)
- Lead sponsor
- Vastra Gotaland RegionOther government
- Study start
- 25 Oct 2021 (actual)
- Primary completion
- 17 Mar 2025 (actual)
- Study completion
- 17 Mar 2025 (actual)
- First posted
- 29 Oct 2021 (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.
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 18 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- Single blind (outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Treatment | Active comparator | Drug: Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet, Drug: Salbutamol Only Product in Oral Dose Formcongenital myopathy patients in this group will receive daily oral salbutamol, three times daily. |
| Non treatment | No intervention | –Congenital myopathy patients in this group will not receive any salbutamol nor placebo. |
Who may qualify
- Ages
- 6 to 30 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (10 listed)
- Signed informed consent from legal guardians/patients and patient (where applicable)
- Subject must have a confirmed congenital myopathy(CM) diagnosis defined as:
- 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.
Key exclusion criteria (19 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Salbutamol (as Salbutamol Sulfate) 2 Mg Oral TabletAlso: Ventolin tablettaken 3 times daily for 6 months | Drug | Treatment |
| Salbutamol Only Product in Oral Dose FormAlso: Ventolin oral syruptaken 3 times daily for 6 months | Drug | Treatment |
Primary outcome
Motor function measure test 32 (MFM32)
Time frame: 19 months
score presented as a total score from 0 to 96 points, the higher the score the better motor function
6 secondary outcomes
timed function tests
Time frame: 5 evaluations in 19 months
6 minute walk test
Time frame: 5 evaluations in 19 months
hand grip test
Time frame: 5 evaluations in 19 months
5 consecutive 9 hole PEG test
Time frame: 5 evaluations in 19 months
muscle myometry test using a hand held myometer
Time frame: 5 evaluations in 19 months
Activity limitation ACTIVLIM- quality of life questionnaire
Time frame: 5 evaluations in 19 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jun 2025.
- Individual participant dataSharing planned: Yes. all individual participant data(IPD) that underlie results in a publication
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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.
Niklas Darin, M.D principal investigator
Vastra Gotaland Region
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet and Salbutamol Only Product in Oral Dose Form in people with Congenital Myopathy and Neuromuscular Diseases, run by Vastra Gotaland Region at 1 site in Sweden.
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 10 inclusion and 19 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: finished, as of the sponsor's last update on 19 Jun 2025. 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 Sweden. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Motor function measure test 32 (MFM32) (time frame: 19 months). 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 19 Jun 2025.