Clinical trials: Myotonia, open to volunteers
Myopathy, Muscular Dystrophies
Muscle Health Measurements Using Electrical Impedance Myography
This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging).
- Conditions
- Myopathy, Muscular Dystrophies, Myositis, Myofibrillar Myopathy
- Trial name
- NCT07502989
- Testing
- Electrical Impedance Myography
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Duchenne / Becker Muscular Dystrophy, Dystrophia Myotonica 1
Evaluation of the Role of miR-1 in the Pathogenesis and as a Biomarker in Muscular Dystrophies and Congenital Myopathies
The study aims to find out if a specific blood molecule called miR-1, can be used as a biomarker to track the health of patients with certain muscle diseases.
- Conditions
- Duchenne / Becker Muscular Dystrophy, Dystrophia Myotonica 1, Congenital Myopathies, Healthy Participants
- Trial name
- Dystro-miR1 (NCT07415837)
- Testing
- dosage of blood biomarker miR1
- Where
- France
- Volunteers
- 104 people, healthy volunteers welcome
- Sponsor
- University Hospital, Clermont-Ferrand
Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy
Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension
This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.
- Conditions
- Congenital Myotonic Dystrophy, Childhood Myotonic Dystrophy, Myotonic Dystrophy
- Trial name
- TREAT-EXT (NCT06747884)
- Where
- 4 sites in United States, Brazil
- Volunteers
- 200 people
- Sponsor
- Virginia Commonwealth University
Central Core Disease, Centronuclear Myopathy
Molecular and Genetic Studies of Congenital Myopathies
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…
- Conditions
- Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease
- Trial name
- NCT00272883
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Boston Children's Hospital
Ryanodine Receptor 1-Related Myopathy, Ryanodine Receptor 1 Related Disorders
A Natural History Study of RYR1-Related Disorders
Background: Congenital myopathies (CM) are genetic disorders that can cause decreased muscle tone and muscle weakness. Most CMs in the United States are related to the ryanodine receptor 1 (RYR1) gene.
- Trial name
- NCT06287762
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
Myotonia
An Open-Label, Randomized, Cross-Over Study to Investigate the Efficacy and Safety of Mexiletine PR Compared to Mexiletine IR
An Open-Label, Randomized, Cross-Over Study to Investigate the Efficacy and Safety of Mexiletine PR compared to Mexiletine IR in Patients with Non-Dystrophic Myotonias (ACHILLES study)
- Trial name
- NCT07097701
- Testing
- Granular powder in unit dose foil-lined sachet Mexiletine (PR), Oral Capsule Mexiletine (IR)
- Where
- Belgium
- Volunteers
- 24 people
- Sponsor
- Lupin Ltd.
Congenital Myotonic Dystrophy
Safety and Efficacy of Tideglusib in Congenital or Childhood Onset Myotonic Dystrophy
This is an open-label phase 2/3 study for individuals with Congenital Myotonic Dystrophy (Congenital DM1) who participated in the preceding AMO-02-MD-2-003 study or individuals with either Congenital or Childhood Onset DM1 who…
- Trial name
- REACH CDM X (NCT05004129)
- Testing
- Tideglusib
- Where
- 14 sites in United States, Australia and 2 more
- Volunteers
- 76 people
- Sponsor
- AMO Pharma Limited
Congenital Myopathies, Muscular Dystrophy
Personalized Disease Modeling for Rare Genetic Myopathies
The goal of this observational study is to learn how rare genetic muscle diseases change over time and whether muscle cells grown from a participant's blood can help researchers understand the disease.
- Trial name
- NCT07914049
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Akron Children's Hospital
Dystrophinopathy, Muscular Dystrophies
VirtualPark_Pediatric
The goal of this clinical trial is to assess the effects of a dual-task, multimodal training program on slowing functional motor decline in children and adolescents with neuromuscular disorders.
- Conditions
- Dystrophinopathy, Muscular Dystrophies, Congenital Myopathies
- Trial name
- NCT07580365
- Testing
- Dual-task cycling, Standard therapy
- Where
- 4 sites in Italy
- Volunteers
- 22 people
- Sponsor
- Istituto di Sistemi e Tecnologie Industriali Intelligenti per il Manifatturiero Avanzato
Myotonic Dystrophy Type 1 (DM1), DM1
Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1
The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment basivarsen (DYNE-101) for the treatment of myotonic dystrophy 1 (DM1).
- Conditions
- Myotonic Dystrophy Type 1 (DM1), DM1, Myotonic Dystrophy, Steinert Disease
- Trial name
- NCT07486934
- Testing
- zeleciment basivarsen (DYNE-101)
- Where
- 44 sites in United States, Australia and 10 more
- Volunteers
- 150 people
- Sponsor
- Dyne Therapeutics
Phenotype, Genotype
Phenotype - Genotype Correlation in a Sample of Egyptian Patients With Congenital Myopathies and Congenital Muscular Dystrophies
The aim of this study is to correlate the phenotype and genotype among a sample of Egyptian patients with Congenital myopathies and Congenital muscular dystrophies.
- Conditions
- Phenotype, Genotype, Correction, Sample
- Trial name
- NCT07138963
- Testing
- Genetic Testing and Muscle Biopsy
- Where
- Egypt
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Ain Shams University
Central Core Disease, Multi-Minicore Disease
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies.
- Conditions
- Central Core Disease, Multi-Minicore Disease, Nemaline Myopathy, Centronuclear Myopathy
- Trial name
- READYCOM (NCT06157268)
- Testing
- Natural history and non therapeutical therapy
- Where
- 2 sites in Netherlands
- Volunteers
- 100 people
- Sponsor
- Radboud University Medical Center
Non Dystrophic Myotonia, Arrythmia, Cardiac
A Single Center Prospective Study in an Estimated 570 Patients Who Underwent Genetic Screening at UZ Brussel in the Context of a Primary Cardiac Arrhythmia. Patients Showing a Variant Class 3,4 or 5 in SCN4A or CLCN1 Will Undergo a Clinical and Electrophysiological Review After IC.
A prospective interventional single-center study will be conducted. The study includes clinically diagnosed Intramuros PCA-patients who underwent a PCA gene panel of 113 genes (see Appendix 1) in the UZ-Brussel since 2021.
- Trial name
- NCT07183059
- Testing
- Electromyography
- Volunteers
- 570 people
- Sponsor
- Universitair Ziekenhuis Brussel
Nemaline Myopathy
Nemaline Myopathy Clinical Research Network (NM-CTRN)
The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).
- Trial name
- NCT06774703
- Where
- 6 sites in United States, Canada
- Volunteers
- 50 people
- Sponsor
- Stanford University
DM1, Myotonic Dystrophy
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension
Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy.
- Conditions
- DM1, Myotonic Dystrophy, Myotonic Dystrophy 1, Myotonic Dystrophy Type 1
- Trial name
- END-EXT (NCT07700225)
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Virginia Commonwealth University
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)
Congenital Muscle Disease Study of Patient and Family Reported Medical Information
The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle…
- Conditions
- Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency, Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations), Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)
- Trial name
- CMDPROS (NCT01403402)
- Where
- United States
- Volunteers
- 4,000 people
- Sponsor
- Cure CMD
Myotonic Dystrophy Type 1 (DM1)
A Study of Long-term Safety and Efficacy of VX-670 in Participants With Myotonic Dystrophy Type I
The purpose of the study is to evaluate the long-term safety and tolerability, efficacy and pharmacokinetics of VX-670 in participants with Myotonic Dystrophy Type I (DM1).
- Trial name
- NCT06926621
- Testing
- VX-670
- Where
- 16 sites in United States, Australia and 6 more
- Volunteers
- 44 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Neuromuscular Disease, Malignant Hyperthermia
The Prevalence of RYR1-related Disease
The skeletal muscle ryanodine receptor (RYR1) gene encodes an important calcium channel in skeletal muscle, with an important role in muscle contraction. Mutations (i.e.
- Conditions
- Neuromuscular Disease, Malignant Hyperthermia, Congenital Myopathy, Multiminicore Disease
- Trial name
- NCT06791369
- Where
- United Kingdom
- Volunteers
- 2,000 people
- Sponsor
- King's College London
Muscle Atrophy, Myotonia
Electromyostimulation (EMS) of Astronauts in Spaceflight (Easymotion-2)
This is a prospective spaceflight study involving an investigational non-risk device called the EasyMotionSkin for whole body electric muscle (myo) stimulation (WB-EMS) onboard the International Space Station (ISS).
- Conditions
- Muscle Atrophy, Myotonia, Stiffness; Spine, Exercise Overtraining
- Trial name
- Easymotion-2 (NCT06492057)
- Testing
- Electromyostimulation (EMS), Myoton, Electromyography (EMG)
- Where
- Germany
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Charite University, Berlin, Germany