X-linked Myotubular Myopathy
Conditions
Keywords
MTM, XLMTM
Brief summary
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.
Interventions
None listed
Sponsors
Astellas Gene Therapies
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
No minimum to 3 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax | 3 months to 2 years |
| Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20 | 3 months to 2 years |
Secondary
| Measure | Time frame |
|---|---|
| Characterize quality of life as measured by PedsQL | 3 months to 2 years |
Countries
Canada, France, Germany, United Kingdom, United States
Outcome results
None listed