Trial record 9 of 159 for:    "N-acetylglutamate synthase deficiency" OR "Amino Acid Metabolism, Inborn Errors"

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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified October 2010 by McGill University Health Center.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
McGill University Health Center
ClinicalTrials.gov Identifier:
NCT01289158
First received: February 2, 2011
Last updated: February 7, 2011
Last verified: October 2010
  Purpose

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
Malonic Aciduria
Methylmalonic Acidemia

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional

Resource links provided by NLM:


Further study details as provided by McGill University Health Center:

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

Estimated Enrollment: 6
Study Start Date: February 2011
Estimated Study Completion Date: February 2012
Estimated Primary Completion Date: February 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
non-classical CMAMMA, classical CMAMMA

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Biochemical Genetics clinics patients with non-classical CMAMMA

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01289158

Contacts
Contact: Ahmed Alfares, M.B.B.S 5144124427 ahmed.alfares@mail.mcgill.ca

Locations
Canada, Quebec
McGill University Health Center Recruiting
Montreal, Quebec, Canada, H3H1P3
Contact: Ahmed Alfares, M.B.B.S    5144124427    ahmed.alfares@mail.mcgill.ca   
Principal Investigator: Nancy Braverman         
Sub-Investigator: Ahmed Alfares         
Sponsors and Collaborators
McGill University Health Center
  More Information

Additional Information:
No publications provided

Responsible Party: Dr. Nancy Braverman, The Research Institute of the MUHC / McGill University Health Centre
ClinicalTrials.gov Identifier: NCT01289158     History of Changes
Other Study ID Numbers: 10-131-PED
Study First Received: February 2, 2011
Last Updated: February 7, 2011
Health Authority: Canada: Canadian Institutes of Health Research

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

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 21, 2014