A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects (INCEPTUS)
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government.
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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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Ages Eligible for Study:
up to 3 Years (Child)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
XLMTM subjects aged 3 years and younger.
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
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