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

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ClinicalTrials.gov Identifier: NCT01289158
Recruitment Status : Unknown
Verified October 2010 by McGill University Health Centre/Research Institute of the McGill University Health Centre.
Recruitment status was:  Recruiting
First Posted : February 3, 2011
Last Update Posted : February 8, 2011
Sponsor:
Information provided by:
McGill University Health Centre/Research Institute of the McGill University Health Centre

Tracking Information
First Submitted Date February 2, 2011
First Posted Date February 3, 2011
Last Update Posted Date February 8, 2011
Study Start Date February 2011
Estimated Primary Completion Date February 2012   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
Official Title Not Provided
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.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
  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
Sampling Method Non-Probability Sample
Study Population Biochemical Genetics clinics patients with non-classical CMAMMA
Condition
  • Malonic Aciduria
  • Methylmalonic Acidemia
Intervention Not Provided
Study Groups/Cohorts non-classical CMAMMA, classical CMAMMA
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: February¬†2,¬†2011)
6
Original Estimated Enrollment Same as current
Estimated Study Completion Date February 2012
Estimated Primary Completion Date February 2012   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Canada
Removed Location Countries  
 
Administrative Information
NCT Number NCT01289158
Other Study ID Numbers 10-131-PED
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Dr. Nancy Braverman, The Research Institute of the MUHC | McGill University Health Centre
Study Sponsor McGill University Health Centre/Research Institute of the McGill University Health Centre
Collaborators Not Provided
Investigators Not Provided
PRS Account McGill University Health Centre/Research Institute of the McGill University Health Centre
Verification Date October 2010