Trial Search Results
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. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Stanford is currently accepting patients for this trial.
Valerion Therapeutics, LLC
Collaborator: Institut de Myologie, France
- Patients of any age (newborns included) may participate.
- Patients over 18 years of age and parent(s)/legal guardian(s) of patients <18 years of
age must provide written informed consent prior to participating in the study and
informed assent will be obtained from minors at least 7 years of age when required by
- MTM resulting from a mutation in the MTM1 gene.
- Male or symptomatic female. A symptomatic female will be defined by the motor function
assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA)
below 80% of the total score.
- Willing and able to comply with all protocol requirements and procedures.
- Other disease which may significantly interfere with the assessment of MTM and is
clearly not related to the disease.
- Currently enrolled in a treatment study; or treatment with an experimental therapy
other than pyridostigmine.
Ages Eligible for Study
N/A - N/A
Genders Eligible for Study