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

Status:	Active, not recruiting
Conditions:	Neurology
Therapuetic Areas:	Neurology
Healthy:	No
Age Range:	Any - 3
Updated:	1/13/2019
Start Date:	July 2016
End Date:	January 2019

INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger

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.

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

We found this trial at

sites

UCLA

Los Angeles, California 90095

(310) 825-4321