Clinical trial NCT02704273: A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
Official title: INCEPTUS: A Prospective, Non-Interventional Clinical Assessment Study in X Linked Myotubular Myopathy (XLMTM) Subjects Aged 3 Years and Younger
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X-linked Myotubular Myopathy
Keywords: MTM
XLMTM
Lead sponsor: Astellas Pharma Inc
Sponsor class: INDUSTRY
First posted: 2016-03-10
Enrollment: 34
Sex: MALE
Maximum age (years): 3
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: XLMTM subjects aged 3 years and younger.

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.


Eligibility criteria: 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

Primary outcomes:
measure: Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax
timeFrame: 3 months to 2 years
measure: Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20
timeFrame: 3 months to 2 years
Secondary outcomes:
measure: Characterize quality of life as measured by PedsQL
timeFrame: 3 months to 2 years
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: UCLA
state: California
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Bethesda
country: United States
facility: National Institute of Neurological Disorders and Stroke/NIH Porter
state: Maryland
city: Toronto
country: Canada
facility: Hospital for Sick Children
state: Ontario
city: Paris
country: France
facility: Hopital Armand Trousseau
city: Munich
country: Germany
facility: Ludwig-Maximilians Universität München
city: London
country: United Kingdom
facility: Great Ormond Street Hospital
Study officials:
affiliation: Audentes Therapeutics
name: Salvador Rico, MD, PhD
role: STUDY_DIRECTOR
References: