CompletedNot Applicable

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

Sweden18 participantsStarted 2021-10-25

Plain-language 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.

Who can participate

Age range6 Years – 30 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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 cigare…

What they're measuring

Motor function measure test 32 (MFM32)

Timeframe: 19 months

Trial details

NCT IDNCT05099107

SponsorVastra Gotaland Region

Sponsor typeOTHER_GOV

Study typeINTERVENTIONAL

Primary completion2025-03-17