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Nemaline Myopathy clinical trials

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NCT ID: NCT06157268 Not yet recruiting - Clinical trials for Centronuclear Myopathy

The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.

READYCOM
Start date: December 2023
Phase:
Study type: Observational

Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.

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: NCT03728803 Completed - Clinical trials for Inspiratory Muscle Training

Inspiratory Muscle Training in Nemaline Myopathy

NEMTRAIN
Start date: October 10, 2018
Phase: N/A
Study type: Interventional

Nemaline myopathy is a rare congenital myopathy. Respiratory failure is the main cause of death in these patients. The primary objective of this study is to determine the effect of a 8-week inspiratory muscle training program on respiratory muscle function in nemaline myopathy patients. The secondary objective is to determine respiratory muscle function in nemaline myopathy patients and its correlation with clinical severity and general neuromuscular function. The nemaline myopathy patients will be included in the first phase for a clinical characterization. From this phase patients will be selected for the second phase, which is a controlled before-after trial of inspiratory muscle training. The primary outcome is the change in maximal inspiratory pressure (MIP) after active inspiratory muscle training

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.

NCT ID: NCT00272883 Recruiting - Clinical trials for Centronuclear Myopathy

Molecular and Genetic Studies of Congenital Myopathies

Start date: August 2003
Phase:
Study type: Observational

In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs