Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
NCT ID: NCT01289158
Last Updated: 2011-02-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
6 participants
OBSERVATIONAL
2011-02-28
2012-02-29
Brief Summary
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Some people with high MA and MMA in their blood and urine have a serious disease, starting as a baby or young child that includes heart disease and problems in learning. These people have changes in a special enzyme called Malonyl CoA Decarboxylase (MCD). Other people who have a high level of MA and MMA do not have any obvious illness. The investigators are not sure why they have high levels of MA and MMA and why they are not sick.
The goal of this study is to learn more about why some people have a high level of MA and MMA and to make sure there are no medical problems as a result of these high levels. The investigators also want to find out which gene and enzyme cause the high levels of MA and MMA.
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
CROSS_SECTIONAL
Study Groups
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non-classical CMAMMA, classical CMAMMA
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
2. Any age
3. Any sex
4. Asymptomatic
Exclusion Criteria
2. History of metabolic acidosis, developmental delay and seizures
ALL
Yes
Sponsors
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McGill University Health Centre/Research Institute of the McGill University Health Centre
OTHER
Responsible Party
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The Research Institute of the MUHC | McGill University Health Centre
Locations
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McGill University Health Center
Montreal, Quebec, Canada
Countries
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Central Contacts
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Facility Contacts
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Related Links
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The Research Institute of the McGill University Health Centre
Other Identifiers
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10-131-PED
Identifier Type: -
Identifier Source: org_study_id
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