Clinical trials: X-linked Myotubular Myopathy
X-Linked Myotubular Myopathy
A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
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 therapies for this serious condition.
- Trial name
- ASPIRO (NCT03199469)
- Testing
- Resamirigene bilparvovec
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 27 people
- Sponsor
- Astellas Gene Therapies
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
Congenital Myopathy, Neuromuscular Diseases
Changes of Motor Function Tests in Congenital Myopathy Subjects Treated With Oral Salbutamol as Compared to no Treatment
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…
- Conditions
- Congenital Myopathy, Neuromuscular Diseases, Musculoskeletal Diseases, Nemaline Myopathy
- Trial name
- COMPIS (NCT05099107)
- Testing
- Salbutamol (as Salbutamol Sulfate) 2 Mg Oral Tablet, Salbutamol Only Product in Oral Dose Form
- Where
- Sweden
- Volunteers
- 18 people
- Sponsor
- Vastra Gotaland Region
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate DYN101 in Participants 2 to 17 Years With Centronuclear Myopathies
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…
- Trial name
- DyNaMic (NCT04743557)
- Testing
- DYN101
- Where
- 2 sites in France, Germany
- Sponsor
- Dynacure
Males With X-linked Myotubular Myopathy (XLMTM)
A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded…
- Trial name
- NCT02231697
- Testing
- Non-interventional, retrospective medical chart review
- Where
- 8 sites in United States, United Kingdom
- Volunteers
- 161 people
- Sponsor
- Astellas Gene Therapies
X-linked Myotubular Myopathy
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger.
- Trial name
- INCEPTUS (NCT02704273)
- Where
- 8 sites in United States, Canada and 3 more
- Volunteers
- 34 people
- Sponsor
- Astellas Gene Therapies
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies
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…
- Trial name
- Unite-CNM (NCT04033159)
- Testing
- DYN101
- Where
- 8 sites in Belgium, Denmark and 4 more
- Volunteers
- 14 people
- Sponsor
- Dynacure
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
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
X-linked Myotubular Myopathy
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
- Trial name
- NCT02453152
- Testing
- History and physical, Tidal breathing, Maximal respiratory pressures
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- University of Florida
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
Myotubular Myopathy
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe.
- Trial name
- MTM (NCT02057705)
- Where
- 13 sites in United States, Belgium and 5 more
- Volunteers
- 48 people
- Sponsor
- Valerion Therapeutics, LLC
X-linked Myotubular Myopathy
Myotubular Myopathy Event Study
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function.
- Trial name
- MTMES (NCT01840657)
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- Cure CMD
X Linked Myotubular Myopathy
Tamoxifen Therapy for Myotubular Myopathy
This is a phase 1 / 2, randomized, double-blinded, single cross-over study, with a washout period between treatment regimens, to test the efficacy and safety of tamoxifen therapy to improve motor and respiratory function in males…
- Trial name
- TAM4MTM (NCT04915846)
- Testing
- ApoTamox 10mg
- Where
- 4 sites in United States, Canada and 1 more
- Volunteers
- 6 people
- Sponsor
- James Dowling
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
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