PatientCrossroads CMD

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

Study Start:  July 2016
 
Purpose
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.

The primary objective of the study is as follows:

• To characterize the disease course and natural history of children with XLMTM, with a specific focus on respiratory and neuromuscular measurements

The secondary objective of the study is as follows:

• To assess the burden of disease in XLMTM subjects and caregivers

Eligibility

Inclusion Criteria:

1. Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene
2. Subject is male
3. Subject is aged ≤3 years
4. 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)
5. Access to subject’s medical records
6. Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable)
7. Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures

Exclusion Criteria:

1. Subject is participating in an interventional study designed to treat XLMTM
2. Subject born <35 weeks gestation who is still not to term as per corrected age
3. Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator