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

NCT01289158 | Unknown

• 1 other identifier: 10-131-PED
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Malonic Aciduria; Methylmalonic Acidemia

Keywords

malonic and methylmalonic aciduria; malonyl-coenzyme A decarboxylase; MLYCD

Study Arms (1)

non-classical CMAMMA, classical CMAMMA

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Biochemical Genetics clinics patients with non-classical CMAMMA

You may qualify if:

• Elevated Malonic and Methylmalonic Acid in blood and urine
• Any age
• Any sex
• Asymptomatic

You may not qualify if:

• Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme
• History of metabolic acidosis, developmental delay and seizures

Sponsors & Collaborators

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

Study Sites (1)

McGill University Health Center

Montreal, Quebec, H3H1P3, Canada

RECRUITING

Related Links

• The Research Institute of the McGill University Health Centre

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

MeSH Terms

Conditions

Malonic aciduria; Methylmalonic acidemia; Macular dystrophy, corneal type 1

Central Study Contacts

Ahmed Alfares, M.B.B.S

CONTACT

5144124427; ahmed.alfares@mail.mcgill.ca

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: February 2, 2011
• First Posted: February 3, 2011
• Study Start: February 1, 2011
• Primary Completion: February 1, 2012
• Study Completion: February 1, 2012
• Last Updated: February 8, 2011

Record last verified: 2010-10

Locations

CA (1)