Clinical trials: Myotubular Myopathy, open to volunteers
Centronuclear Myopathy
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination.
- Trial name
- MOSAIC (NCT07021820)
- Testing
- MSOT
- Where
- Germany
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
X-Linked Myotubular Myopathy
Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07052929
- Testing
- ASP2957, Methylprednisolone, Prednisolone
- Where
- 5 sites in United States, Canada
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
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
Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy
Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study
The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device.
- Conditions
- Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth
- Trial name
- NCT05982119
- Testing
- ActiMyo/Syde
- Where
- 8 sites in Belgium, Czechia and 5 more
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
X-Linked Myotubular Myopathy
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness.
- Trial name
- EXCEL (NCT06581146)
- Testing
- No Intervention
- Where
- 11 sites in United States, Canada and 1 more
- Volunteers
- 50 people
- Sponsor
- Astellas Gene Therapies
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
X-linked Myotubular Myopathy
A Long-term Follow-up Study in Male Participants With X-linked Myotubular Myopathy Treated With ASP2957
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07876804
- Testing
- ASP2957
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
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
Myotubular Myopathy, Myotubular Myopathy 1
Myotubular and Centronuclear Myopathy 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.
- Conditions
- Myotubular Myopathy, Myotubular Myopathy 1, Myotubular (Centronuclear) Myopathy, Centronuclear Myopathy
- Trial name
- NCT04064307
- Where
- United Kingdom
- Volunteers
- 500 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust