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Nemaline Myopathy clinical trials

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NCT ID: NCT05099107 Enrolling by invitation - Clinical trials for Musculoskeletal Diseases

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

COMPIS
Start date: October 25, 2021
Phase: N/A
Study type: Interventional

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.

NCT ID: NCT02035501 Enrolling by invitation - Nemaline Myopathy Clinical Trials

Treatment of TNNT1-Myopathy With L-Tyrosine.

Start date: January 2014
Phase: Phase 2
Study type: Interventional

The purpose of the study is to investigate if treatment with L-Tyrosine improves selected outcome measures of TNNT1 myopathy.