X-linked Myotubular MyopathyNCT02453152
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
An observational study of X-linked Myotubular Myopathy, run by University of Florida at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 14 years, men only
- Conditions the study is for
- X-linked Myotubular Myopathy
- What is being tested?
- History and physical, Tidal breathing and Maximal respiratory pressures
- How many people
- 28 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2015to 31 Jul 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 14 years
- Men only
- No healthy volunteers
- Child
Study population: Males with geneticially confirmed XLMTM
Who may be able to join
- Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
- Patients who are between 0 and 14 years of age.
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- X-linked Myotubular Myopathy
- Being tested
- History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory
- Keywords
- myotubular myopathy, respiratory muscles, natural history
- Medical subject headings
- Myopathies, Structural, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
History and physicalOther
Subjects will undergo a physical exam and medical history review, including review of genetic test results.
Tidal breathingOther
Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.
Maximal respiratory pressuresOther
Also called MIP, MEP
Subjects' strongest inspiratory and expiratory pressures will be measured.
Peak cough flowOther
Subjects' strongest coughs will be measured.
Pediatric Evaluation of Disability InventoryOther
Also called PEDI
Assesses the functional capabilities of children with disabilities.
PedsQL Multidimensional Fatigue ScaleOther
Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.
Review of ventilation requirementsOther
Subjects's use of mechanical ventilation reviewed by the study team.
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.
Measured: 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.
Subject's maximal inspiratory and expiratory pressures.
Measured: 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.
Subjects will be assessed on the ability to generate a cough and the strength of that cough.
Measured: 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.
Subject's resting breathing pattern will be assessed.
Measured: Change in baseline visit, at 6 month visit and 12 month visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 May 2015 (estimated)
- Study startOct 2015
- Primary completion31 Jul 2019
- Study completion31 Jul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked Myotubular MyopathyStudies of the same condition, open and under way.
- More trials run by University of FloridaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 28 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Audentes Therapeutics
- Responsible party
- Sponsor
- Investigators
- Barbara K Smith, PT, PhD, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02453152
- Sponsor's protocol ID
- IRB201500379
- Status last verified
- Feb 2021
- First submitted
- 18 May 2015
- Last updated
- 15 Feb 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Feb 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
- ClinicalTrials.gov ID
- NCT02453152
- Acronym / sponsor ID
- IRB201500379
- Conditions
- X-linked Myotubular Myopathy
- Keywords
- myotubular myopathy, respiratory muscles, natural history
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Collaborators
- Audentes Therapeutics
- Study start
- Oct 2015
- Primary completion
- 31 Jul 2019 (actual)
- Study completion
- 31 Jul 2019 (actual)
- First posted
- 25 May 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Males with 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 requirementsHistory and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements |
Who may qualify
- Ages
- Up to 14 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Males with geneticially confirmed XLMTM
Key inclusion criteria (2 listed)
- Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
- Patients who are between 0 and 14 years of age.
Key exclusion criteria (5 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| History and physicalSubjects will undergo a physical exam and medical history review, including review of genetic test results. | Other | Males with X-linked myotubular myopathy |
| Tidal breathingSubjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support. | Other | Males with X-linked myotubular myopathy |
| Maximal respiratory pressuresAlso: MIP, MEPSubjects' strongest inspiratory and expiratory pressures will be measured. | Other | Males with X-linked myotubular myopathy |
| Peak cough flowSubjects' strongest coughs will be measured. | Other | Males with X-linked myotubular myopathy |
| Pediatric Evaluation of Disability InventoryAlso: PEDIAssesses the functional capabilities of children with disabilities. | Other | Males with X-linked myotubular myopathy |
| PedsQL Multidimensional Fatigue ScaleAssesses general fatigue, sleep/rest fatigue, and cognitive fatigue. | Other | Males with X-linked myotubular myopathy |
| Review of ventilation requirementsSubjects's use of mechanical ventilation reviewed by the study team. | Other | Males with X-linked myotubular myopathy |
Primary outcome
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
3 secondary outcomes
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
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
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Feb 2021.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Barbara K Smith, PT, PhD principal investigator
University of Florida
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Myotubular Myopathy, run by University of Florida at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 15 Feb 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Feb 2021.