NCT02453152

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
28

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Oct 2015

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 18, 2015

Completed
7 days until next milestone

First Posted

Study publicly available on registry

May 25, 2015

Completed
4 months until next milestone

Study Start

First participant enrolled

October 1, 2015

Completed
3.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 31, 2019

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 31, 2019

Completed
Last Updated

February 15, 2021

Status Verified

February 1, 2021

Enrollment Period

3.8 years

First QC Date

May 18, 2015

Last Update Submit

February 11, 2021

Conditions

X-linked Myotubular Myopathy

Keywords

myotubular myopathyrespiratory musclesnatural history

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (3)

  • 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

  • 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

  • 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

Study Arms (1)

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 physicalOther: Tidal breathingOther: Maximal respiratory pressuresOther: Peak cough flowOther: Pediatric Evaluation of Disability InventoryOther: PedsQL Multidimensional Fatigue ScaleOther: Review of ventilation requirements

Interventions

History and physicalOTHER

Subjects will undergo a physical exam and medical history review, including review of genetic test results.

Males with X-linked myotubular myopathy
Tidal breathingOTHER

Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.

Males with X-linked myotubular myopathy
Maximal respiratory pressuresOTHER

Subjects' strongest inspiratory and expiratory pressures will be measured.

Also known as: MIP, MEP
Males with X-linked myotubular myopathy
Peak cough flowOTHER

Subjects' strongest coughs will be measured.

Males with X-linked myotubular myopathy
Pediatric Evaluation of Disability InventoryOTHER

Assesses the functional capabilities of children with disabilities.

Also known as: PEDI
Males with X-linked myotubular myopathy
PedsQL Multidimensional Fatigue ScaleOTHER

Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.

Males with X-linked myotubular myopathy
Review of ventilation requirementsOTHER

Subjects's use of mechanical ventilation reviewed by the study team.

Males with X-linked myotubular myopathy

Eligibility Criteria

AgeUp to 14 Years
Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

Males with geneticially confirmed XLMTM

You may qualify if:

  • Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
  • Patients who are between 0 and 14 years of age.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Florida

Gainesville, Florida, 32607, United States

Location

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Interventions

Health Records, PersonalRestraint, Physical

Condition Hierarchy (Ancestors)

Muscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System Diseases

Intervention Hierarchy (Ancestors)

Medical RecordsRecordsData CollectionEpidemiologic MethodsInvestigative TechniquesBehavior ControlTherapeuticsImmobilization

Study Officials

  • Barbara K Smith, PT, PhD

    University of Florida

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 18, 2015

First Posted

May 25, 2015

Study Start

October 1, 2015

Primary Completion

July 31, 2019

Study Completion

July 31, 2019

Last Updated

February 15, 2021

Record last verified: 2021-02

Locations

US(1)