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Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)
Recruiting
I'm InterestedTrial 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, Neurology & Neurological Sciences 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.
Recruiting
I'm InterestedContact Information
Stanford University
School of Medicine
300 Pasteur Drive
Stanford,
CA
94305