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

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ClinicalTrials.gov Identifier: NCT02453152
Recruitment Status : Recruiting
First Posted : May 25, 2015
Last Update Posted : January 10, 2018
Sponsor:
Collaborator:
Audentes Therapeutics
Information provided by (Responsible Party):
University of Florida

May 18, 2015
May 25, 2015
January 10, 2018
October 2015
July 2018   (Final data collection date for primary outcome measure)
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 ]
Same as current
Complete list of historical versions of study NCT02453152 on ClinicalTrials.gov Archive Site
  • 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.
Same as current
Not Provided
Not Provided
 
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
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.
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.
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample
Males with geneticially confirmed XLMTM
X-linked Myotubular Myopathy
  • 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.
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
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
12
Same as current
December 2018
July 2018   (Final data collection date for primary outcome measure)

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.
Sexes Eligible for Study: Male
up to 14 Years   (Child)
No
Contact: Barbara K Smith, PT, PhD 3522945315 bksmith@phhp.ufl.edu
Contact: Lee Kugelmann 3522736855 ekugelm@ufl.edu
United States
 
 
NCT02453152
201500379
No
Not Provided
Not Provided
University of Florida
University of Florida
Audentes Therapeutics
Principal Investigator: Barbara K Smith, PT, PhD University of Florida
University of Florida
January 2018