Myotubular Myopathy Event Study

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01840657

Acronym

MTMES

Enrollment

Registered

2013-04-26

Start date

2013-04-30

Completion date

2015-10-31

Last updated

2018-03-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-linked Myotubular Myopathy

Keywords

CMDIR (Congenital Muscle Disease International Registry), X-linked myotubular myopathy, centronuclear myopathy, myotubularin, MTM1 gene, mutation, survival, adverse event, disease complication, hospital admission, emergency room visit, motor function, respiratory function, natural history study

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).

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Survey of a defined set of events	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	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	12 months	To analyze the strength of the association between the frequency of events surveyed and current motor function

Secondary

Measure	Time frame	Description
Association between event frequency and genotype	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	12 months	To analyze event rates with respect to two seasonal clusters, October through March and April through September.

Countries

United States

Outcome results