Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Brief Title

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Official Title

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

Brief Summary

      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.
    

Detailed Description

      This is a prospective, non-interventional, longitudinal study of the natural history and
      function of patients with MTM. The study duration is 36 months. The enrollment period will be
      12 months and each patient will be assessed over 24 months. Data will be analyzed at baseline
      and annually thereafter and reports will be prepared based on these analyses. A final report
      will summarize findings after all patients have completed 24 months of follow-up. Assessments
      performed in this study will be based on the age and ambulatory status of the patient. The
      assessments will also be adjusted to account for the variability in both phenotypes and age
      of the patients who may participate in this study. Patients will be evaluated at Baseline,
      Month 6, Month 12 and Month 24. It is anticipated that approximately 60 patients from the
      United States, Canada and Europe will be included in this study.
    


Study Type

Observational


Primary Outcome

Time to characterize the disease course in MTM patients

Secondary Outcome

 Change in disease severity and disease progression

Condition

Myotubular Myopathy



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

48

Start Date

February 2014

Completion Date

June 26, 2017

Primary Completion Date

June 26, 2017

Eligibility Criteria

        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.
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Hal Landy, MD, , 

Location Countries

Belgium

Location Countries

Belgium

Administrative Informations


NCT ID

NCT02057705

Organization ID

VAL-101-13


Responsible Party

Sponsor

Study Sponsor

Valerion Therapeutics, LLC

Collaborators

 Institut de Myologie, France

Study Sponsor

Hal Landy, MD, Study Director, Valerion Therapeutics, LLC


Verification Date

June 2018