Myotubular Myopathy Event Study
| Status: | Completed |
|---|---|
| Conditions: | Neurology |
| Therapuetic Areas: | Neurology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 4/17/2018 |
| Start Date: | April 2013 |
| End Date: | October 2015 |
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).
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).
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
We found this trial at
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