Clinical Trials Logo
  1. Home
  2. Methylmalonic Acidemia
  3. NCT01289158

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

Methylmalonic Acidemia Clinical Trial

Clinical 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. 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.

Clinical Trial Description

n/a

Study Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT01289158
Study type Observational
Source McGill University Health Center
Contact Ahmed Alfares, M.B.B.S
Phone 5144124427
Email ahmed.alfares@mail.mcgill.ca
Status Recruiting
Phase N/A
Start date February 2011
Completion date February 2012
View Details
See also
  Status Clinical Trial Phase
Enrolling by invitation NCT05842837 - A Non-Interventional Post-Authorization Study of Carbaglu for the Treatment of Hyperammonemia Due to MMA and PA
Completed NCT01599286 - Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Phase 2
Completed NCT02426775 - Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia Phase 3
Terminated NCT04581785 - Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia Phase 1/Phase 2
Recruiting NCT05295433 - An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705 Phase 1/Phase 2
Terminated NCT04836494 - A First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic Acidemia Phase 1
Completed NCT03484767 - "The MaP Study": Mapping the Patient Journey in MMA and PA
Terminated NCT04732429 - Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia Phase 2
Recruiting NCT00078078 - Clinical and Laboratory Study of Methylmalonic Acidemia
Recruiting NCT05040178 - An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics
Active, not recruiting NCT05506254 - Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy
Recruiting NCT04176523 - Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
Withdrawn NCT01341379 - Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Phase 2
Recruiting NCT04899310 - A Study to Assess Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia Phase 1/Phase 2
Terminated NCT05438485 - Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia