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Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Not Recruiting
Trial ID: NCT02057705,25513,26554,26510
Purpose
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.
Official Title
Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Stanford Investigator(s)
Sarada Sakamuri, MD
Clinical Associate Professor, Adult Neurology Clinical Associate Professor (By courtesy), Neurosurgery
Eligibility
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 regulation.
* 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.
Not Recruiting
Contact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305