Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Brief Title

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Official Title

Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Brief Summary

      This study is a longitudinal study evaluating the severity and progression of respiratory
      muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
    

Detailed Description

      Subjects aged 0-7 will be evaluated every six months for a total of three evaluations
      (Baseline, Six-Month Visit, Twelve-Month Visit). Subjects aged 8-14 will be evaluated every
      twelve months for a total of two evaluations (Baseline, Twelve-Month Visit). Evaluations
      include medical history, physical exam, respiratory muscle tests, a qualitative interview
      related to the child's function and use of respiratory aids, and quality of life assessments.
    


Study Type

Observational


Primary Outcome

Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.

Secondary Outcome

 Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit.

Condition

X-linked Myotubular Myopathy

Intervention

History and physical

Study Arms / Comparison Groups

 Males with X-linked myotubular myopathy
Description:  History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements

Publications

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

Recruitment Information


Recruitment Status

Other

Estimated Enrollment

28

Start Date

October 2015

Completion Date

July 31, 2019

Primary Completion Date

July 31, 2019

Eligibility Criteria

        Inclusion Criteria:

          -  Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.

          -  Patients who are between 0 and 14 years of age.

        Exclusion Criteria:

          -  Patients without a confirmed genetic mutation.

          -  Patients unable to travel to the site for the study.

          -  Patients participating in an interventional treatment study for XLMTM at the time of
             enrollment.

          -  Patients who are unable to complete study procedures.

          -  Patients who have a condition that, in the opinion of the investigator, would make
             participation in this study unsafe.
      

Gender

Male

Ages

N/A - 14 Years

Accepts Healthy Volunteers

No

Contacts

Barbara K Smith, PT, PhD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT02453152

Organization ID

IRB201500379


Responsible Party

Sponsor

Study Sponsor

University of Florida

Collaborators

 Audentes Therapeutics

Study Sponsor

Barbara K Smith, PT, PhD, Principal Investigator, University of Florida


Verification Date

February 2021