Myotubular Myopathy Event Study (MTMES)

March 5, 2018 updated by: Cure CMD

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).

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

33

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Torrance, California, United States, 90502
        • CMDIR

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

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)

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
12 months
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.
12 months
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
12 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
12 months
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.
12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cure CMD

Collaborators

University of Michigan
Congenital Muscle Disease International Registr

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 1, 2013

Primary Completion (Actual)

October 1, 2015

Study Completion (Actual)

October 1, 2015

Study Registration Dates

First Submitted

April 18, 2013

First Submitted That Met QC Criteria

April 23, 2013

First Posted (Estimate)

April 26, 2013

Study Record Updates

Last Update Posted (Actual)

March 7, 2018

Last Update Submitted That Met QC Criteria

March 5, 2018

Last Verified

January 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CMDIR-002

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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