Myotubular Myopathy Event Study

Brief Title

Myotubular Myopathy Event Study

Official Title

Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy

Brief Summary

      X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of
      a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin
      is essential for optimum muscle function. To date, over 100 mutations have been described
      resulting in a range of disease onset and symptom severity. The early onset form presents
      with neonatal hypotonia, muscle weakness, respiratory distress and an ongoing requirement for
      continuous ventilatory support with the inability to maintain a sitting position once placed.
      Males with both later onset and milder symptoms usually do not require ongoing ventilatory
      support, achieve a higher maximal motor function with ability to sit when placed and even
      walk, and have improved survival rates. Males with XLMTM may experience complications
      (events) at birth and throughout their lifetime. The goal of the study is to identify the
      number of events over twelve months in males with genetically confirmed XLMTM. Parents or
      affected individuals over the age of 18 years who are able to access telephone will provide
      answers to an established event survey to evaluate the frequency and types of events.
      Emergency department, hospital admissions and mortality will be confirmed by obtaining
      medical reports.

      The investigators hypothesize that there will be no association between the frequency of
      events and markers of clinical severity including the need for ventilatory support at birth,
      current level of ventilatory support (no support, support less than 12 hours, support more
      than 12 hours) and current motor function (walking, sitting without support, inability to sit
      without support).
    



Study Type

Observational


Primary Outcome

Survey of a defined set of events

Secondary Outcome

 Association between event frequency and genotype

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

33

Start Date

April 2013

Completion Date

October 2015

Primary Completion Date

October 2015

Eligibility Criteria

        Inclusion Criteria:

          -  males with a confirmed MTM1 mutation OR

          -  males with a muscle biopsy consistent with myotubular myopathy AND family history
             consistent with X-linked inheritance AND

          -  English-speaking parent/guardian of a living male child or a decisionally impaired
             adult OR English-speaking affected male over 18 years of age who can access telephone

          -  signed study consent

          -  enrolled in the Congenital Muscle Disease International Registry (CMDIR)

        Exclusion Criteria:

          -  males with only a clinical diagnosis of XLMTM but without family history of XLMTM

          -  an affected male who has a genetically confirmed form of centronuclear myopathy (CNM)
             that is not caused by a mutation in the MTM1 gene

          -  females with MTM1 due to the limited number of females affected and the variability of
             clinical presentation
      

Gender

Male

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Joseph Hornyak, MD, PhD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01840657

Organization ID

CMDIR-002


Responsible Party

Sponsor

Study Sponsor

Cure CMD

Collaborators

 Congenital Muscle Disease International Registr

Study Sponsor

Joseph Hornyak, MD, PhD, Principal Investigator, University of Michigan


Verification Date

January 2017