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

Sponsor
McGill University Health Centre/Research Institute of the McGill University Health Centre (Other)
Overall Status
Unknown status
CT.gov ID
NCT01289158
Collaborator
(none)
6
Enrollment
1
Location
12
Duration (Months)
0.5
Patients Per Site Per Month

Study Details

Study Description

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 Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    6 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Cross-Sectional
    Study Start Date :
    Feb 1, 2011
    Anticipated Primary Completion Date :
    Feb 1, 2012
    Anticipated Study Completion Date :
    Feb 1, 2012

    Arms and Interventions

    Arm Intervention/Treatment
    non-classical CMAMMA, classical CMAMMA

    Outcome Measures

    Primary Outcome Measures

      Eligibility Criteria

      Criteria

      Ages Eligible for Study:
      N/A and Older
      Sexes Eligible for Study:
      All
      Accepts Healthy Volunteers:
      Yes
      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

      Contacts and Locations

      Locations

      Site City State Country Postal Code
      1 McGill University Health Center Montreal Quebec Canada H3H1P3

      Sponsors and Collaborators

      • McGill University Health Centre/Research Institute of the McGill University Health Centre

      Investigators

      None specified.

      Study Documents (Full-Text)

      None provided.

      More Information

      Additional Information:

      Publications

      None provided.
      Responsible Party:
      , ,
      ClinicalTrials.gov Identifier:
      NCT01289158
      Other Study ID Numbers:
      • 10-131-PED
      First Posted:
      Feb 3, 2011
      Last Update Posted:
      Feb 8, 2011
      Last Verified:
      Oct 1, 2010
      Keywords provided by , ,
      malonic and methylmalonic aciduria
      malonyl-coenzyme A decarboxylase
      MLYCD

      Study Results

      No Results Posted as of Feb 8, 2011