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

February 7, 2011 updated by: McGill University Health Centre/Research Institute of the McGill University Health Centre

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 Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

6

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Canada
    • Quebec
      • Montreal, Quebec, Canada, H3H1P3
        • Recruiting
        • McGill University Health Center
        • Contact:
        • Principal Investigator:
          • Nancy Braverman
        • Sub-Investigator:
          • Ahmed Alfares

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Biochemical Genetics clinics patients with non-classical CMAMMA

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
non-classical CMAMMA, classical CMAMMA

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

February 1, 2011

Primary Completion (Anticipated)

February 1, 2012

Study Completion (Anticipated)

February 1, 2012

Study Registration Dates

First Submitted

February 2, 2011

First Submitted That Met QC Criteria

February 2, 2011

First Posted (Estimate)

February 3, 2011

Study Record Updates

Last Update Posted (Estimate)

February 8, 2011

Last Update Submitted That Met QC Criteria

February 7, 2011

Last Verified

October 1, 2010

More Information

Terms related to this study

Keywords

Other Study ID Numbers

  • 10-131-PED

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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