Malonic AciduriaNCT01289158
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
An observational study of Malonic Aciduria and Methylmalonic Acidemia, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Malonic Aciduria, Methylmalonic Acidemia
- How many people
- 6 participants
- Where
- 1 siteCanada
- Study dates
- Feb 2011to Feb 2012
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Biochemical Genetics clinics patients with non-classical CMAMMA
Who may be able to join
- Elevated Malonic and Methylmalonic Acid in blood and urine
- Any age
- Any sex
- Asymptomatic
Who cannot join
- Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme
- History of metabolic acidosis, developmental delay and seizures
Trial locations and contacts
1 site in 1 country.
Canada1 site, 1 recruiting
- Recruiting
McGill University Health Center
Montreal, Quebec, H3H1P3
Ahmed Alfares, M.B.B.S, 5144124427, ahmed.alfares@mail.mcgill.ca
Nancy Braverman
About this study
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
- Medical subject headings
- Malonic aciduria, Methylmalonic acidemia, Macular dystrophy, corneal type 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| non-classical CMAMMA, classical CMAMMA | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Feb 2011 (estimated)
- Study startFeb 2011
- Primary completionFeb 2012 (estimated)
- Study completionFeb 2012 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Malonic AciduriaStudies of the same condition, open and under way.
- More trials run by McGill University Health Centre/Research Institute of the McGill University Health CentreThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 6 participants (estimated)
Sponsor and investigators
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
- Sponsor type
- University, hospital or other
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01289158
- Sponsor's protocol ID
- 10-131-PED
- Status last verified
- Oct 2010
- First submitted
- 2 Feb 2011
- Last updated
- 8 Feb 2011
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Feb 2011. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study
- ClinicalTrials.gov ID
- NCT01289158
- Acronym / sponsor ID
- 10-131-PED
- Conditions
- Malonic Aciduria, Methylmalonic Acidemia
- Keywords
- malonic and methylmalonic aciduria, malonyl-coenzyme A decarboxylase, MLYCD
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 6 participants (estimated)
- Lead sponsor
- McGill University Health Centre/Research Institute of the McGill University Health CentreUniversity, hospital or other
- Study start
- Feb 2011
- Primary completion
- Feb 2012 (estimated)
- Study completion
- Feb 2012 (estimated)
- First posted
- 3 Feb 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| non-classical CMAMMA, classical CMAMMA | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Biochemical Genetics clinics patients with non-classical CMAMMA
Key inclusion criteria (4 listed)
- Elevated Malonic and Methylmalonic Acid in blood and urine
- Any age
- Any sex
- Asymptomatic
Key exclusion criteria (2 listed)
- Defect in malonyl-coenzyme A decarboxylase (MCD) enzyme
- History of metabolic acidosis, developmental delay and seizures
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Feb 2011.
- The Research Institute of the McGill University Health CentreLink provided by the sponsor.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Malonic Aciduria and Methylmalonic Acidemia, run by McGill University Health Centre/Research Institute of the McGill University Health Centre at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 8 Feb 2011. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ahmed Alfares, M.B.B.S (5144124427, ahmed.alfares@mail.mcgill.ca), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Feb 2011.