A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

34 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-07-31

Study Completion Date

2019-09-30

Brief Summary

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This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.

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Detailed Description

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Conditions

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X-linked Myotubular Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
* Subject is male
* Subject is aged less than 4 years
* Subject requires some mechanical ventilatory support (eg, ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure \[CPAP\] or bilevel positive airway pressure \[BiPAP\] during sleeping hours)
* Access to subject's medical records
* Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable)
* Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures

Exclusion Criteria

* Subject is participating in an interventional study designed to treat XLMTM
* Subject born \<35 weeks gestation who is still not to term as per corrected age
* Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator
* Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment

Maximum Eligible Age

3 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No