Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment

NCT05099107 | Completed DMC

• 2 other identifiers: COMPIS2019-001147-51
• Study Type: interventional
• Target: 18
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Myopathy; Neuromuscular Diseases; Musculoskeletal Diseases; Nemaline Myopathy; Centronuclear Myopathy; Myosin Storage Myopathy

Keywords

oral salbutamol; motor function measure 32

Outcome Measures

Primary Outcomes (1)

• 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

  19 months

Secondary Outcomes (6)

• timed function tests

  5 evaluations in 19 months

• 6 minute walk test

  5 evaluations in 19 months

• hand grip test

  5 evaluations in 19 months

• 5 consecutive 9 hole PEG test

  5 evaluations in 19 months

• muscle myometry test using a hand held myometer

  5 evaluations in 19 months

Study Arms (2)

Treatment

ACTIVE COMPARATOR

congenital myopathy patients in this group will receive daily oral salbutamol, three times daily.

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.

Interventions

Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet DRUG

taken 3 times daily for 6 months

Also known as: Ventolin tablet

Treatment

Salbutamol Only Product in Oral Dose Form DRUG

taken 3 times daily for 6 months

Also known as: Ventolin oral syrup

Treatment

Eligibility Criteria

• Age: 6 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Vastra Gotaland Region: lead

Study Sites (1)

Sahlgrenska university hospital

Gothenburg, Västra Götaland County, 41650, Sweden

Location

MeSH Terms

Conditions

Myotonia Congenita; Neuromuscular Diseases; Musculoskeletal Diseases; Myopathies, Nemaline; Myopathies, Structural, Congenital; Muscular Dystrophy, Emery-Dreifuss

Interventions

Albuterol; Tablets; Dosage Forms

Condition Hierarchy (Ancestors)

Myotonic Disorders; Muscular Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophies; Muscular Disorders, Atrophic; Genetic Diseases, X-Linked

Intervention Hierarchy (Ancestors)

Ethanolamines; Amino Alcohols; Alcohols; Organic Chemicals; Amines; Phenethylamines; Ethylamines; Pharmaceutical Preparations; Technology, Pharmaceutical; Investigative Techniques

Study Officials

• Niklas Darin, M.D

  Vastra Gotaland Region

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 15, 2021
• First Posted: October 29, 2021
• Study Start: October 25, 2021
• Primary Completion: March 17, 2025
• Study Completion: March 17, 2025
• Last Updated: June 19, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will share
• Time Frame: The data will be available starting 6 months after publication

Locations

SE (1)