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

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ClinicalTrials.gov Identifier: NCT02453152
Recruitment Status : Completed
First Posted : May 25, 2015
Last Update Posted : February 15, 2021
Sponsor:
Collaborator:
Audentes Therapeutics
Information provided by (Responsible Party):
University of Florida

Tracking Information
First Submitted Date May 18, 2015
First Posted Date May 25, 2015
Last Update Posted Date February 15, 2021
Study Start Date October 2015
Actual Primary Completion Date July 31, 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 20, 2015)
Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: May 20, 2015)
  • Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]
    Subject's maximal inspiratory and expiratory pressures.
  • Change in baseline peak cough flow at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]
    Subjects will be assessed on the ability to generate a cough and the strength of that cough.
  • Change in baseline tidal breathing at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]
    Subject's resting breathing pattern will be assessed.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population Males with geneticially confirmed XLMTM
Condition X-linked Myotubular Myopathy
Intervention
  • Other: History and physical
    Subjects will undergo a physical exam and medical history review, including review of genetic test results.
  • Other: Tidal breathing
    Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.
  • Other: Maximal respiratory pressures
    Subjects' strongest inspiratory and expiratory pressures will be measured.
    Other Name: MIP, MEP
  • Other: Peak cough flow
    Subjects' strongest coughs will be measured.
  • Other: Pediatric Evaluation of Disability Inventory
    Assesses the functional capabilities of children with disabilities.
    Other Name: PEDI
  • Other: PedsQL Multidimensional Fatigue Scale
    Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.
  • Other: Review of ventilation requirements
    Subjects's use of mechanical ventilation reviewed by the study team.
Study Groups/Cohorts Males with X-linked myotubular myopathy
History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Interventions:
  • Other: History and physical
  • Other: Tidal breathing
  • Other: Maximal respiratory pressures
  • Other: Peak cough flow
  • Other: Pediatric Evaluation of Disability Inventory
  • Other: PedsQL Multidimensional Fatigue Scale
  • Other: Review of ventilation requirements
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: September 4, 2019)
28
Original Estimated Enrollment
 (submitted: May 20, 2015)
12
Actual Study Completion Date July 31, 2019
Actual Primary Completion Date July 31, 2019   (Final data collection date for primary outcome measure)
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.
Sex/Gender
Sexes Eligible for Study: Male
Ages up to 14 Years   (Child)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02453152
Other Study ID Numbers IRB201500379
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party University of Florida
Study Sponsor University of Florida
Collaborators Audentes Therapeutics
Investigators
Principal Investigator: Barbara K Smith, PT, PhD University of Florida
PRS Account University of Florida
Verification Date February 2021