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Centronuclear Myopathy clinical trials

View clinical trials related to Centronuclear Myopathy.

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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: NCT05982119 Recruiting - Clinical trials for Duchenne Muscular Dystrophy

Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study

Start date: July 10, 2020
Phase: N/A
Study type: Interventional

The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.

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: NCT04977648 Withdrawn - Clinical trials for Centronuclear Myopathy

Natural History Study of Patients With Centronuclear Myopathies

NatHis-CNM
Start date: September 2022
Phase:
Study type: Observational

This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States. The duration of the study, including the enrollment period, will be approximately 4 years. Data from the study will be used to characterize the natural disease course of CNM, to identify prognostic variables of the disease and to determine the best outcome measure(s) for the evaluation of future therapeutic approaches.

NCT ID: NCT04743557 Withdrawn - Clinical trials for Centronuclear Myopathy

Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies

DyNaMic
Start date: January 2024
Phase: Phase 1/Phase 2
Study type: Interventional

There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and preliminary efficacy of DYN101 in participants 2 to 17 years of age with CNM caused by mutations in DNM2 or MTM1.The trial will consist of a pre-screening consent, a screening period, a run-in period (if applicable), and a Part 1 of 12 weeks with weekly infusion of DYN101 to evaluate safety and tolerability as well as PK, PD and preliminary efficacy. The dose level may need adjustment based on the Part 1 results of the current study and available data from the Unite-CNM study (DYN101-C101, NCT04033159). If a dose adjustment is needed, Part 2 will be conducted in the same participants and the newly selected dose level will be used to assess whether efficacy is seen after an additional 12 weeks of treatment. As this trial is investigational, there is no defined, expected benefit for subjects who participate in this trial except a better knowledge of their disease.

NCT ID: NCT04064307 Recruiting - Clinical trials for Centronuclear Myopathy

Myotubular and Centronuclear Myopathy Patient Registry

Start date: March 26, 2013
Phase:
Study type: Observational [Patient Registry]

The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions. More details and online registration are available at www.mtmcnmregistry.org.

NCT ID: NCT04033159 Terminated - Clinical trials for Centronuclear Myopathy

Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies

Unite-CNM
Start date: January 9, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD)/preliminary efficacy of a new medicine called DYN101 in patients ≥ 16 years of age with CNM caused by mutations in Dynamin2 (DNM2) or Myotubularin1 (MTM1). The trial will consist of a consent, a screening period, a run-in period (if applicable), a Single dose treatment part (SAD) with 4 weeks of follow-up after the drug administration and a washout period of at least 12 weeks (followed by follow-up phone calls), a Multiple dose treatment part (MAD) of 12 weeks of weekly dosing, and a Multiple dose extension part of 12 weeks. All subjects will participate in the SAD, MAD, and MAD extension parts, unless they withdraw. During this time, multiple test will be performed in order to better understand how the drug is distributed and then later removed from the body and whether there any signs of an effect. As this trial is investigational, there is no defined, expected benefit for subjects who participate in this trial except a better knowledge of their disease.

NCT ID: NCT03351270 Completed - Clinical trials for Centronuclear Myopathy

Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

NatHis-CNM
Start date: May 28, 2017
Phase: N/A
Study type: Interventional

This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten additional pediatric patients with mutation in MTM1 or DNM2 genes). the patients are planned to be enrolled in one year leading to an expected total number of 70 patients followed at least over 1 year period. Data from the study will be used to characterize the disease course of CNM and determine which outcome measures will be the best to assess the efficacy of potential therapies.

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