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

Brief Title

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

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.
    



Study Type

Observational


Primary Outcome

Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax

Secondary Outcome

 Characterize quality of life as measured by PedsQL

Condition

X-linked Myotubular Myopathy



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

34

Start Date

July 2016

Completion Date

September 2019

Primary Completion Date

September 2019

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
      

Gender

Male

Ages

N/A - 3 Years

Accepts Healthy Volunteers

No

Contacts

Salvador Rico, MD, PhD, , 

Location Countries

Canada

Location Countries

Canada

Administrative Informations


NCT ID

NCT02704273

Organization ID

ATX-MTM-009 INCEPTUS


Responsible Party

Sponsor

Study Sponsor

Audentes Therapeutics


Study Sponsor

Salvador Rico, MD, PhD, Study Director, Audentes Therapeutics


Verification Date

July 2019