Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01289158
Recruitment Status : Unknown
Verified October 2010 by McGill University Health Center.
Recruitment status was:  Recruiting
First Posted : February 3, 2011
Last Update Posted : February 8, 2011
Information provided by:
McGill University Health Center

February 2, 2011
February 3, 2011
February 8, 2011
February 2011
February 2012   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT01289158 on Archive Site
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Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
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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.

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Observational Model: Case-Only
Time Perspective: Cross-Sectional
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Retention:   Samples With DNA
  1. A 5 cc sample of blood from a vein in EDTA tube for DNA testing
  2. A 5 cc sample of urine sample to measure the levels of MA and MMA
  3. An additional 5 cc (1 tsp) of blood sample will be collected from the parents for DNA testing
Non-Probability Sample
Biochemical Genetics clinics patients with non-classical CMAMMA
  • Malonic Aciduria
  • Methylmalonic Acidemia
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non-classical CMAMMA, classical CMAMMA
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Unknown status
February 2012
February 2012   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
Child, Adult, Senior
Contact information is only displayed when the study is recruiting subjects
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Dr. Nancy Braverman, The Research Institute of the MUHC | McGill University Health Centre
McGill University Health Center
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McGill University Health Center
October 2010