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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 : March 7, 2018
Sponsor:
Collaborators:
Congenital Muscle Disease International Registr
University of Michigan
Information provided by (Responsible Party):
Cure CMD

Tracking Information
First Submitted Date April 18, 2013
First Posted Date April 26, 2013
Last Update Posted Date March 7, 2018
Actual Study Start Date April 2013
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: April 23, 2013)
  • 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.
  • 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.
  • 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
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT01840657 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: April 23, 2013)
  • 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.
  • 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.
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
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).

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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)
Condition X-linked Myotubular Myopathy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: January 30, 2017)
33
Original Estimated Enrollment
 (submitted: April 23, 2013)
75
Actual Study Completion Date October 2015
Actual Primary Completion Date October 2015   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: Male
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01840657
Other Study ID Numbers CMDIR-002
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Cure CMD
Study Sponsor Cure CMD
Collaborators
  • Congenital Muscle Disease International Registr
  • University of Michigan
Investigators
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
PRS Account Cure CMD
Verification Date January 2017