Methylmalonic Acidemia Clinical Trial
The investigators are interested in learning more about the changes found in the condition
called "Combined elevation of Malonic and MethylMalonic Acid, or CMAMMA. " Malonic, or MA
and MethylMalonic, or MMA, are acids formed from the breakdown of protein under normal
conditions. However, in the condition called CMAMMA there is an increase of these acids in
the blood and urine, which is not normal.
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.
| Status | Recruiting |
| Enrollment | 6 |
| Est. completion date | February 2012 |
| Est. primary completion date | February 2012 |
| Accepts healthy volunteers | Accepts Healthy Volunteers |
| Gender | Both |
| Age group | N/A and older |
| Eligibility |
Inclusion Criteria: 1. Elevated Malonic and Methylmalonic Acid in blood and urine 2. Any age 3. Any sex 4. Asymptomatic Exclusion Criteria: 1. Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme 2. History of metabolic acidosis, developmental delay and seizures |
Observational Model: Case-Only, Time Perspective: Cross-Sectional
| Country | Name | City | State |
|---|---|---|---|
| Canada | McGill University Health Center | Montreal | Quebec |
| Lead Sponsor | Collaborator |
|---|---|
| McGill University Health Center |
Canada,
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