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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

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.

Condition or disease Intervention/treatment
X-linked Myotubular Myopathy 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

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
Estimated Enrollment : 12 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Study Start Date : October 2015
Estimated Primary Completion Date : July 2018
Estimated Study Completion Date : December 2018


Group/Cohort Intervention/treatment
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
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.




Primary Outcome Measures :
  1. 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 ]

Secondary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.



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Ages Eligible for Study:   up to 14 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Males with geneticially confirmed XLMTM
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02453152


Contacts
Contact: Barbara K Smith, PT, PhD 3522945315 bksmith@phhp.ufl.edu
Contact: Lee Kugelmann 3522736855 ekugelm@ufl.edu

Locations
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32607
Contact: Lee Kugelmann, BA    352-273-6855    ekugelm@ufl.edu   
Sponsors and Collaborators
University of Florida
Audentes Therapeutics
Investigators
Principal Investigator: Barbara K Smith, PT, PhD University of Florida

Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02453152     History of Changes
Other Study ID Numbers: 201500379
First Posted: May 25, 2015    Key Record Dates
Last Update Posted: January 10, 2018
Last Verified: January 2018

Keywords provided by University of Florida:
myotubular myopathy
respiratory muscles
natural history

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases