X-linked Myotubular Myopathy
Conditions
Keywords
myotubular myopathy, respiratory muscles, natural history
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.
Interventions
OTHERTidal breathing
Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.
OTHERMaximal respiratory pressures
Subjects' strongest inspiratory and expiratory pressures will be measured.
OTHERHistory and physical
Subjects will undergo a physical exam and medical history review, including review of genetic test results.
OTHERPeak cough flow
Subjects' strongest coughs will be measured.
OTHERPediatric Evaluation of Disability Inventory
Assesses the functional capabilities of children with disabilities.
Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.
OTHERReview of ventilation requirements
Subjects's use of mechanical ventilation reviewed by the study team.
Sponsors
Audentes Therapeutics
University of Florida
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
No minimum to 14 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit. | Change in baseline visit, at 6 month visit and 12 month visit |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit. | 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. | 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. | Change in baseline visit, at 6 month visit and 12 month visit | Subject's resting breathing pattern will be assessed. |
Countries
United States
Outcome results
None listed