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

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University of Florida

Status

Completed

Conditions

X-linked Myotubular Myopathy

Treatments

Other: Maximal respiratory pressures
Other: History and physical
Other: PedsQL Multidimensional Fatigue Scale
Other: Pediatric Evaluation of Disability Inventory
Other: Review of ventilation requirements
Other: Tidal breathing
Other: Peak cough flow

Study type

Observational

Funder types

Other
Industry

Identifiers

NCT02453152
IRB201500379

Details and patient eligibility

About

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.

Full 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.

Enrollment

28 patients

Sex

Male

Ages

Under 14 years old

Volunteers

No Healthy Volunteers

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.

Trial design

28 participants in 1 patient group

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
Treatment:
Other: Peak cough flow
Other: Review of ventilation requirements
Other: Tidal breathing
Other: PedsQL Multidimensional Fatigue Scale
Other: Pediatric Evaluation of Disability Inventory
Other: History and physical
Other: Maximal respiratory pressures

Trial contacts and locations

0

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Data sourced from clinicaltrials.gov

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