Clinical trials: Congenital Myopathy
Myotubular Myopathy
Myotubular Myopathy Genetic Testing Study
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full time breathing support to…
- Trial name
- NCT01817946
- Testing
- Genetic Testing
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Cure CMD
Cerebral Palsy, Congenital, Muscle Spasticity
Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy
Cerebral palsy (CP) is the most common neuromuscular disorder among children, resulting from a non-progressive injury during early brain development which leads to impairment of movement and posture.
- Trial name
- NCT02462018
- Testing
- WalkAide
- Volunteers
- 20 people
- Sponsor
- Tel-Aviv Sourasky Medical Center
Myotonic Dystrophy Type 1
Observational Prolonged Trial in Myotonic Dystrophy Type 1
Myotonic dystrophy type1 (DM1) is a rare, inherited, chronic progressive disease as well as an autosomal dominant multisystemic disorder.
- Trial name
- OPTIMISTIC (NCT02118779)
- Testing
- Behavioural change intervention
- Where
- 4 sites in France, Germany and 2 more
- Volunteers
- 255 people
- Sponsor
- Radboud University Medical Center
Dystrophia Myotonica 1
Methylphenidate in Myotonic Dystrophy Type 1
The purpose of this study is to determine whether methylphenidate is effective in the treatment of excessive daytime sleepiness due to myotonic dystrophy type 1 (DM1).
- Trial name
- NCT01421992
- Testing
- Methylphenidate
- Where
- Canada
- Volunteers
- 28 people
- Sponsor
- Laval University
Duchenne Muscular Dystrophy (DMD), Viscoelastic Property
Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles
Muscular dystrophies are hereditary and progressive skeletal muscle diseases that cause degeneration and loss of strength in the muscles.
- Trial name
- NCT07435116
- Where
- Turkey (Türkiye)
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Sanko University
Duchenne Muscular Dystrophy
Evaluation of Home Based Assessments on Participants With DMD
This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.
- Trial name
- NCT05657938
- Testing
- Wearable Device, Duchenne Video Assessment (DVA)
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Solid Biosciences Inc.
Myotonic Dystrophy Type 1
Cerebrospinal Fluid Biomarkers of Myotonic Dystrophy
Myotonic dystrophy is associated with central sleep apnea, excessive daytime sleepiness, diminished working memory, impaired visuospatial skills, and deficits in problem-solving skills.
- Trial name
- NCT06075693
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- Massachusetts General Hospital
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
Duchenne Muscular Dystrophy (DMD)
A Low Interventional Study to Monitor Activity Using Wearable Sensors in Duchenne Muscular Dystrophy
The purpose of this low interventional study is to collect data on everyday movement in boys with Duchenne muscular dystrophy (DMD) using wearable activity sensors.
- Trial name
- NCT04254172
- Testing
- Activity Monitor
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Pfizer
Fascioscapulohumeral Muscular Dystrophy
Dietary Protein Requirements in Adults With Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting about 4 out of 100,000 individuals.
- Trial name
- FSHD (NCT06785428)
- Testing
- Amino Acid Intake
- Where
- 2 sites in Canada
- Volunteers
- 10 people
- Sponsor
- McGill University
Autoimmune Diseases, Sickle Cell Disease
Microvascular and Fibrosis Imaging Study
In this study, Laser Doppler Flowmetry (LDF), Laser Doppler Imaging (LDI), Orthogonal Polarization Spectral Imaging (OPSI), Nail fold video capillaroscopy (NVC) and Optical Coherence Tomography (OCT) will be used to assess…
- Conditions
- Autoimmune Diseases, Sickle Cell Disease, Chronic Graft Versus Host Disease
- Trial name
- NCT01758250
- Testing
- Acoustic Radiation Force Impulse (ARFI), Laser Doppler Flowmetry (LDF), Laser Doppler Perfusion Imaging (LDI)
- Where
- United States
- Volunteers
- 63 people, healthy volunteers welcome
- Sponsor
- Duke University
Hypokalemic Periodic Paralysis, Hyperkalemic Periodic Paralysis
Effect of Physical Training in Individuals With Hypokalemic and Hyperkalemic Periodic Paralysis
This study wishes to investigate the effects of strength exercise in patients with either HypoPP or HyperPP. The investigators wishes to include participants already diagnosed with either HypoPP or HyperPP in af 24 week…
- Trial name
- NCT07194174
- Testing
- Strength exercise
- Where
- Denmark
- Volunteers
- 36 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Duchenne Muscular Dystrophy (DMD)
A Trial of Chronotherapy of Corticosteroids in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease for which no curative treatment has yet been identified, making it important to slow progression and improve the quality of life among affected boys and…
- Trial name
- NCT02036463
- Testing
- Prednisone
- Where
- United States
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Duchenne Muscular Dystrophy
Biomechanical Analysis of Gait in Individuals With Duchenne Muscular Dystrophy
The purpose of this research study is to understand the walking patterns, strength and function changes of boys with Duchenne muscular dystrophy on/off corticosteroids to determine the best timing and treatment options to…
- Trial name
- NCT00312247
- Where
- 3 sites in United States
- Volunteers
- 85 people
- Sponsor
- Shriners Hospitals for Children
Centronuclear Myopathy
Natural History Study of Patients With Centronuclear Myopathies
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.
- Trial name
- NatHis-CNM (NCT04977648)
- Sponsor
- Dynacure
Skin Laxity, Muscle Contracture
Evaluation of the Immediate Effect and Safety of DMA™ Novel Muscle Stimulation Technology
A total of at least 15 and up to 17 healthy subjects at a single site, aged 25-45 years old, who wish to receive a lifting effect and improved muscle definition, will be included in the study.
- Trial name
- NCT04296201
- Testing
- DMA treatment
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Lumenis Be Ltd.
Glycogen Storage Disease Type III
Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies
Patients suffering from the metabolic myopathy Glycogen Storage Disease type IIIa (GSDIIIa) have a problem releasing sugar stored in cells that is needed for energy production.
- Trial name
- NCT02448667
- Testing
- FAXE Kondi, Faxe Kondi Free
- Where
- Denmark
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Muscular Dystrophies
Ablelite Pediatric Device Clinical Study
The primary objective of the AbleLite early feasibility study is to evaluate the function of the upper limbs of participants diagnosed with neuromuscular disorders as children, with and without use of the Abilitech AbleLite…
- Trial name
- NCT04308447
- Testing
- AbleLite
- Volunteers
- 20 people
- Sponsor
- AbiliTech Medical Inc.
Muscular Dystrophies
Diaphragm Ultrasound in Neuromuscular Disorders
Muscular dystrophies are neurologic disease with higher morbidity and mortality. Cardiac function and respiratory muscles can be affected, in addition with skeletal muscle deficiency .
- Trial name
- NCT04045158
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Centre d'Investigation Clinique et Technologique 805
Duchenne Muscular Dystrophy
Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy
Researchers at Children's Hospital Boston Neurology Department invite children to participate in a new research study. Researchers are looking for boys ages 2 - 30 with Duchenne Muscular Dystrophy (DMD) and healthy boys ages 2 …
- Trial name
- QED (NCT01491555)
- Where
- United States
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
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