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Myotubular Myopathy Event Study (MTMES)

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ClinicalTrials.gov Identifier: NCT01840657
Recruitment Status : Completed
First Posted : April 26, 2013
Last Update Posted : February 1, 2017
Information provided by (Responsible Party):

Study Description
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).

Condition or disease
X-linked Myotubular Myopathy

Study Design

Study Type : Observational
Actual Enrollment : 33 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy
Actual Study Start Date : April 2013
Primary Completion Date : October 2015
Study Completion Date : October 2015

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :
  1. Survey of a defined set of events [ Time Frame: 12 months ]
    Changes in care needed, breathing support, motor ability, medications and medical care, nutrition/weight management, communication/vision/learning/behavior, and frequency of outpatient/hospital/ER visits are recorded by a monthly telephone survey.

  2. Frequency of a predefined set of events related to ventilatory status [ Time Frame: 12 months ]
    To analyze the strength of the association between the frequency of events surveyed and 1) duration of ventilatory support directly after birth and 2) current need for ventilatory support.

  3. Frequency of a predefined set of events related to current motor function [ Time Frame: 12 months ]
    To analyze the strength of the association between the frequency of events surveyed and current motor function

Secondary Outcome Measures :
  1. Association between event frequency and genotype [ Time Frame: 12 months ]
    To determine the strength of the association between the frequency of the events surveyed and the affected individual's genotype.

  2. Association between event rate and season [ Time Frame: 12 months ]
    To analyze event rates with respect to two seasonal clusters, October through March and April through September.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Participants for the MTM Event study will be recruited from 2 sources:

  • the Centronculear Myopathy Natural History Study and
  • the Congenital Muscle Disease International Registry (CMDIR)

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
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01840657

United States, California
Torrance, California, United States, 90502
Sponsors and Collaborators
Cure CMD
Congenital Muscle Disease International Registr
University of Michigan
Principal Investigator: Joseph Hornyak, MD, PhD University of Michigan
Principal Investigator: Anne Rutkowski, MD Cure CMD
Principal Investigator: James Dowling, MD, PhD University of Michigan
More Information


Responsible Party: Cure CMD
ClinicalTrials.gov Identifier: NCT01840657     History of Changes
Other Study ID Numbers: CMDIR-002
First Posted: April 26, 2013    Key Record Dates
Last Update Posted: February 1, 2017
Last Verified: January 2017

Keywords provided by Cure CMD:
X-linked myotubular myopathy
CMDIR (Congenital Muscle Disease International Registry)
centronuclear myopathy
MTM1 gene
adverse event
disease complication
hospital admission
emergency room visit
motor function
respiratory function
natural history study

Additional relevant MeSH terms:
Muscular Diseases
Myopathies, Structural, Congenital
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases