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.

Lead Sponsor:

Valerion Therapeutics, LLC

Collaborator: Institut de Myologie, France

Stanford Investigator(s):


Inclusion criteria:

   - 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.

Exclusion criteria:

   - 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


Now accepting new patients

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305