Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
Recruitment status was Recruiting
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.
|Study Design:||Observational Model: Case-Only
Time Perspective: Cross-Sectional
- A 5 cc sample of blood from a vein in EDTA tube for DNA testing
- A 5 cc sample of urine sample to measure the levels of MA and MMA
- An additional 5 cc (1 tsp) of blood sample will be collected from the parents for DNA testing
|Study Start Date:||February 2011|
|Estimated Study Completion Date:||February 2012|
|Estimated Primary Completion Date:||February 2012 (Final data collection date for primary outcome measure)|
|non-classical CMAMMA, classical CMAMMA|
|Contact: Ahmed Alfares, M.B.B.Sfirstname.lastname@example.org|
|McGill University Health Center||Recruiting|
|Montreal, Quebec, Canada, H3H1P3|
|Contact: Ahmed Alfares, M.B.B.S 5144124427 email@example.com|
|Principal Investigator: Nancy Braverman|
|Sub-Investigator: Ahmed Alfares|