Clinical trials: Methylmalonic Acidemia
Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism
Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish…
- Conditions
- Urea Cycle Disorders, Inborn, Inborn Errors of Metabolism, Propionic Acidemia, Methylmalonic Acidemia
- Trial name
- NCT01341379
- Testing
- N-carbamylglutamate
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Organic Acidemia, Methylmalonic Acidemia
Clinical and Laboratory Study of Methylmalonic Acidemia
Methylmalonic acidemia (MMA), one of the most common inborn errors of organic acid metabolism, is heterogeneous in etiology and clinical manifestations.
- Conditions
- Organic Acidemia, Methylmalonic Acidemia, Inborn Errors of Metabolism
- Trial name
- NCT00078078
- Where
- 3 sites in United States
- Volunteers
- 2,275 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Children
Branched Chain Amino Acids Ratio in Medical Foods
This study will evaluate the branched-chain amino acids (BCAA) ratio in the medical foods formulated for Methylmalonic and Propionic Acidemias (MMA/PROP) patients.
- Trial name
- NCT03539809
- Testing
- L-Amino Acids
- Where
- Canada
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Urea Cycle Disorder, Propionic Aciduria
MyRareDiet A Novel Diet Tracking Tool
The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to…
- Conditions
- Urea Cycle Disorder, Propionic Aciduria, Maple Syrup Urine Disease, Methylmalonic Acidemia
- Trial name
- MRD (NCT06664840)
- Testing
- MDR diet assessment, 24 hour recall
- Volunteers
- 60 people
- Sponsor
- Oregon Health and Science University
Urea Cycle Disorders, Organic Acidemias
Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis…
- Trial name
- NCT01624311
- Testing
- Therapeutic Hypothermia, Standard of Care Therapy
- Where
- 3 sites in United States
- Volunteers
- 5 people
- Sponsor
- Uta Lichter-Konecki
Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
Long-term Efficacy of Carglumic Acid in Organic Acidemia.
Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
- Trial name
- NCT04284917
- Testing
- Carglumic Acid (Carbaglu®)
- Where
- Taiwan
- Volunteers
- 3 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Malonic Aciduria, Methylmalonic Acidemia
Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome 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.
- Trial name
- NCT01289158
- Where
- Canada
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
Propionic Acidemia, Methylmalonic Acidemia
Carglumic Acid in Methylmalonic Acidemia and Propionic Acidemia
A Phase IIIb (Three b), Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness \& Safety of the use of Carglumic Acid (Carbaglu®) in Patients with Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA).
- Trial name
- CAMP (NCT02426775)
- Testing
- Carglumic Acid
- Where
- 2 sites in Saudi Arabia
- Volunteers
- 33 people
- Sponsor
- King Abdullah International Medical Research Center
Methylmalonic Acidemia, Propionic Acidemia
Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia
This is an interventional study to assess the safety, PK, and efficacy of HST5040 in 12 subjects - 6 with Methylmalonic Acidemia (MMA) and 6 with Propionic Acidemia (PA).
- Trial name
- HERO (NCT04732429)
- Testing
- HST5040
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 26 people
- Sponsor
- HemoShear Therapeutics
Methylmalonic Acidemia
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
The SUNRISE trial is a first-in-human (FIH), open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and preliminary efficacy of a single intravenous infusion of hLB-001 in pediatric patients with MMA…
- Trial name
- SUNRISE (NCT04581785)
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- LogicBio Therapeutics, Inc