Trial record 1 of 1 for:    NCT 01840657
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Myotubular Myopathy Event Study (MTMES)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
Congenital Muscle Disease International Registry (CMDIR)
University of Michigan
Information provided by (Responsible Party):
Cure CMD
ClinicalTrials.gov Identifier:
NCT01840657
First received: April 18, 2013
Last updated: September 30, 2014
Last verified: September 2014

April 18, 2013
September 30, 2014
April 2013
September 2015   (final data collection date for primary outcome measure)
  • Survey of a defined set of events [ Time Frame: 12 months ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    To analyze the strength of the association between the frequency of events surveyed and current motor function
Same as current
Complete list of historical versions of study NCT01840657 on ClinicalTrials.gov Archive Site
  • Association between event frequency and genotype [ Time Frame: 12 months ] [ Designated as safety issue: No ]
    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 ] [ Designated as safety issue: No ]
    To analyze event rates with respect to two seasonal clusters, October through March and April through September.
Same as current
Not Provided
Not Provided
 
Myotubular Myopathy Event Study
Prospective Study of Adverse Event Rates in Males With X-Linked Myotubular Myopathy

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).

Not Provided
Observational
Observational Model: Case-Only
Time Perspective: Prospective
Not Provided
Not Provided
Non-Probability Sample

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)
X-linked Myotubular Myopathy
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
75
December 2015
September 2015   (final data collection date for primary outcome measure)

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
Male
Not Provided
No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT01840657
CMDIR-002
No
Cure CMD
Cure CMD
  • Congenital Muscle Disease International Registry (CMDIR)
  • 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
Cure CMD
September 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP