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

Brief Summary:

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.

Condition or disease
Malonic Aciduria Methylmalonic Acidemia

Study Type : Observational
Estimated Enrollment : 6 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Study Start Date : February 2011
Estimated Primary Completion Date : February 2012
Estimated Study Completion Date : February 2012

non-classical CMAMMA, classical CMAMMA

Biospecimen 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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Biochemical Genetics clinics patients with non-classical CMAMMA

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01289158

Contact: Ahmed Alfares, M.B.B.S 5144124427

Canada, Quebec
McGill University Health Center Recruiting
Montreal, Quebec, Canada, H3H1P3
Contact: Ahmed Alfares, M.B.B.S    5144124427   
Principal Investigator: Nancy Braverman         
Sub-Investigator: Ahmed Alfares         
Sponsors and Collaborators
McGill University Health Center

Additional Information:
Responsible Party: Dr. Nancy Braverman, The Research Institute of the MUHC | McGill University Health Centre Identifier: NCT01289158     History of Changes
Other Study ID Numbers: 10-131-PED
First Posted: February 3, 2011    Key Record Dates
Last Update Posted: February 8, 2011
Last Verified: October 2010

Keywords provided by McGill University Health Center:
malonic and methylmalonic aciduria
malonyl-coenzyme A decarboxylase