Clinical trials: Congenital Myotonic Dystrophy
MDC1A, SELENON-related Myopathy
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene.
- Trial name
- NCT04478981
- Testing
- No intervention
- Where
- Netherlands
- Volunteers
- 38 people
- Sponsor
- Radboud University Medical Center
Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy
Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue.
- Conditions
- Myotonic Dystrophy, Facioscapulohumeral Muscular Dystrophy, Muscular Dystrophy, Myotonic Dystrophy Type 1
- Trial name
- NCT00082108
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Myotonic Dystrophy Type 2
Clinical Outcome Measures in Myotonic Dystrophy Type 2
A monocentric, longitudinal, observational case-control study in patients with Myotonic Dystrophy type 2 (DM2). At least 60 DM2 will be evaluated through a battery of patients reported Outcomes (PROs) and clinical Outcome…
- Trial name
- COMEDY-2 (NCT03603171)
- Testing
- DM1-ActivC, R-PAct, Beck depression inventory
- Where
- Germany
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Prof. Dr. Benedikt Schoser
Myotonic Dystrophy Type 1 (DM1)
Technology Assisted Rehabilitation for Upper Limb Function in Myotonic Dystrophy Type 1
Myotonic Dystrophy type 1 (DM1) is a genetic multisystem disease causing muscle weakness and myotonia. As a result, upper limb function might become impaired.
- Trial name
- Technorehab (NCT05560438)
- Testing
- Tyromotion Amadeo and Armeo Senso
- Where
- Norway
- Volunteers
- 6 people
- Sponsor
- University of Oslo
Congenital Myotonic Dystrophy
Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy
This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).
- Trial name
- NCT03692312
- Testing
- Tideglusib
- Where
- 14 sites in United States, Australia and 3 more
- Volunteers
- 56 people
- Sponsor
- AMO Pharma Limited
Myotonic Dystrophy 1, Myotonic Dystrophy 2
An Ambispective Natural History Study in Myotonic Dystrophy Patients Linking Retrospective Data Captured From the DM-Scope Registry With a Prospective 24-month Follow-up Period
This natural history observational study is being conducted to follow patients with DM1 or DM2 over a 2 year period to study the presence of myotonia, how it's perceived and its impact on patients quality of life.
- Trial name
- Track-DM (NCT07732439)
- Where
- 6 sites in France
- Volunteers
- 100 people
- Sponsor
- Lupin Ltd.
Muscular Dystrophies, Congenital Myopathy
Bullying in Youth With Muscular Dystrophy and Congenital Myopathies
Bullying is an epidemic in Canada, and rates may be underreported. Youth with a disability were more likely to be bullied that those without disabilities, specifically if the disability was visible.
- Trial name
- NCT04733976
- Where
- 2 sites in Canada
- Volunteers
- 29 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Venous Thromboembolism, Pulmonary Embolism
Venous Thromboembolism in DM1
The risk for venous thromboembolism (VTE) in DM1 and in other inherited myopathies, which can lead to chronic immobilization, are unknown.
- Conditions
- Venous Thromboembolism, Pulmonary Embolism, Deep Vein Thrombosis, Myopathy
- Trial name
- DM1-VTE (NCT03141749)
- Volunteers
- 2,810 people
- Sponsor
- Institut de Myologie, France
Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT)
Personalized Training for People With Rare Neuromuscular Disorders
The goal of this study is to investigate the effects of personalized exercise treatment on dynamic balance and physical function in comparison with regular follow-up in adults with rare-neuromuscular disorders…
- Conditions
- Neuromuscular Diseases (NMD), Charcot Marie Tooth Disease (CMT), Facioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- PETRA-NMD (NCT06708468)
- Testing
- Exercise, Usual Care
- Where
- 5 sites in Norway
- Volunteers
- 120 people
- Sponsor
- Oslo University Hospital
Myotonic Dystrophy 2
Investigating Exercise in Myotonic Dystrophy Type 2 (DM2)
An exercise regimen (PRIME: Proximal Resistance In-House Movement Exercise) has been designed for patients with myotonic dystrophy type 2 (DM2).
- Trial name
- DM2 (NCT06716931)
- Testing
- Exercise
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Massachusetts General Hospital
Myotonic Dystrophy Type 1 (DM1)
Breathlessness Assessment in Adult Patients With Myotonic Dystrophy Type 1
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases in adults. As respiratory dysfunction is the most common cause of death in patients with DM1, a respiratory disease progression must be monitored…
- Trial name
- NCT04835298
- Testing
- Dyspnea
- Where
- France
- Volunteers
- 34 people
- Sponsor
- CHU de Reims
Congenital Myotonic Dystrophy
Tideglusib: Expanded Access Use in Congenital Myotonic Dystrophy
This treatment plan is limited to a single patient with Congenital Myotonic Dystrophy, who is ineligible or otherwise unable to participate in ongoing clinical trials.
- Trial name
- NCT07119775
- Testing
- Tideglusib
- Sponsor
- AMO Pharma Limited
Steinert Myotonic Dystrophy
Longitudinal Evaluation of Neuromuscular Involvement in Type 1 Myotonic Dystrophy
Primary objective: To determine the sensitivity to change of neuromuscular functional outcomes during the natural (non-interventional) progression of myotonic dystrophy type 1 (DM1), in order to identify the most relevant and…
- Trial name
- NatHis DM1 (NCT07362316)
- Testing
- Quantification of myotonia, MyoAnkle, Measurement of exercise-induced fatigue
- Where
- 2 sites in Canada, France
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Institut de Myologie, France
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
Wheelchair Mobility, Manual Wheelchair Skills Training
Wheelchair Skills Training for People with ARSACS and DM1
Wheelchairs (WC) are often provided to people with ARSACS and MD1 when they are not able to walk anymore. However, giving someone a MWC alone does not guarantee they will use it safely or properly.
- Conditions
- Wheelchair Mobility, Manual Wheelchair Skills Training, ARSACS, Myotonic Dystrophy Type 1
- Trial name
- NCT06596850
- Testing
- Wheelchair Skills Training Program
- Where
- Canada
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Laval University
Myotonic Dystrophy 1, Steinert Disease
Ventilatory Response After Non Invasive Ventilation in Type 1 Myotonic Dystrophy
It has been suggested that patients with Myotonic Dystrophy type 1 have primary altered ventilatory response to chemical stimuli and chronic hypoventilation is related not always to muscle weakness.
- Trial name
- NCT02880735
- Testing
- Non Invasive Ventilation.
- Where
- Mexico
- Volunteers
- 27 people
- Sponsor
- National Institute of Respiratory Diseases, Mexico
Myotonic Dystrophy Type 1 (DM1)
A Remote Physical Activity Program in the Population Suffering from Type 1 Myotonic Dystrophy
The COVID-19 pandemic exacerbates health problems by reducing access to adapted and advanced physical rehabilitation for several people who need rehabilitation services, including the population with myotonic dystrophy type 1…
- Trial name
- NCT05072288
- Testing
- Remote activity program
- Where
- 2 sites in Canada
- Volunteers
- 40 people
- Sponsor
- Université du Québec à Chicoutimi
Hereditary Disease
Non Invasive Prenatal Testing (NIPT) of Single-gene Disorders
Developing a new non-invasive prenatal test for single gene disorders from cell free fetal DNA, retrieved from the mothers blood.
- Trial name
- NCT02339402
- Where
- 2 sites in Netherlands
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Maastricht University Medical Center
Myotonic Dystrophy
Open Label Study in Adolescents and Children With Myotonic Disorders
This is an open-label, multi-centre, single arm, interventional study to describe the steady-state PK, safety, and efficacy of mexiletine in paediatric patients (6 to <18 years of age) with myotonic disorders.
- Trial name
- NCT04624750
- Testing
- Mexiletine
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Lupin Ltd.
Myotonic Dystrophy 1
Myotonic Dystrophy Type 1 and Resistance Exercise
The purpose of this study is to investigate the response after one bout of moderate-heavy resistance exercise in patients suffering from Myotonic Dystrophy type 1.
- Trial name
- STYRK DM1 (NCT05036447)
- Testing
- Moderate-Heavy Resistance Exercise
- Where
- Norway
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Norwegian School of Sport Sciences