Clinical trials: Organic Acidemia
Urea Cycle Disorders, Organic Acidemias
At Home Ammonia Monitoring of Inborn Errors of Ammonia Metabolism
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home.
- Conditions
- Urea Cycle Disorders, Organic Acidemias, Fatty Acid Oxidation Disorder, Ammonia; Metabolic Disorder
- Trial name
- NCT06953505
- Testing
- Ammonia Study Device
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Sequitur Health Corp.
Methylmalonic Acidemia, Propionic Acidemia
"The MaP Study": Mapping the Patient Journey in MMA and PA
Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to…
- Trial name
- NCT03484767
- Where
- 17 sites in United States, France and 2 more
- Volunteers
- 97 people
- Sponsor
- ModernaTX, Inc.
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Metabolic Disease, Propionic Acidemia
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia
Background: People s bodies need to break down food into the chemicals. These chemicals are used for energy and growth. Some people cannot process all chemicals very well. Too much of some chemicals can cause diseases.
- Conditions
- Metabolic Disease, Propionic Acidemia, Organic Acidemia
- Trial name
- NCT02890342
- Where
- 2 sites in United States
- Volunteers
- 1,045 people, healthy volunteers welcome
- Sponsor
- National Human Genome Research Institute (NHGRI)
Propionic Acidemia
Open-Label Study of mRNA-3927 in Participants With Propionic Acidemia
This 3-part, Phase 1/2 study is designed to characterize the safety, tolerability, and pharmacological activity (as assessed by biomarker measurements) and to determine the selected dose of mRNA-3927 in participants with…
- Trial name
- NCT04159103
- Testing
- mRNA-3927
- Where
- 35 sites in United States, Canada and 6 more
- Volunteers
- 77 people
- Sponsor
- ModernaTX, Inc.
Energy Metabolism, Metabolic Syndrome
Energy Metabolism in Branched-chain Organic Acidemias
Energy metabolism and insulin sensitivity were assessed in a case-control study in patients with branched-chain organic acidemias.
- Conditions
- Energy Metabolism, Metabolic Syndrome, Insulin Resistance
- Trial name
- NCT03917212
- Testing
- No intervention
- Where
- 2 sites in Germany
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- German Diabetes 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, Propionic Acidemia
Understanding the Long-Term Management of Organic Acidemia Patients With CARBAGLU®: A Mixed Methods Approach
This is a prospective mixed-design study focused on the long-term management of propionic aciduria (PA) and methylmalonic aciduria (MMA) with N-carbamylglutamate (NCG) maintenance therapy.
- Trial name
- PROTECT (NCT04176523)
- Testing
- Carglumic Acid
- Where
- 32 sites in France, Germany and 5 more
- Volunteers
- 95 people
- Sponsor
- RECORDATI GROUP
Healthy Volunteers, Propionic Acidemia
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
The purpose of this study is to assess the safety, tolerability, PK and PD of BBP-671 in healthy volunteers and patients with Propionic Acidemia or Methylmalonic Acidemia.
- Conditions
- Healthy Volunteers, Propionic Acidemia, Methylmalonic Acidemia, Organic Acidemia
- Trial name
- NCT04836494
- Testing
- BBP-671
- Where
- 3 sites in United States
- Volunteers
- 79 people, healthy volunteers welcome
- Sponsor
- CoA Therapeutics, Inc., a BridgeBio company
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
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)
Organic Acidemia, Cognitive Orientation
The Effect of the Cognitive Orientation to Daily Occupational Performance Approach for Children With Organic Acidemia
The aim of this study is to research the effect of Cognitive Orientation to daily Occupational Performance (the CO-OP Approach) on daily life activities, quality of life and participation in children with organic acidemia.
- Trial name
- NCT04904705
- Testing
- The Cognitive Orientation to Daily Occupational Performance (CO-OP) Approach, Home Program
- Where
- Turkey (Türkiye)
- Volunteers
- 34 people
- Sponsor
- Hacettepe University
Methylmalonic Acidemia, Propionic Acidemia
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
The JUMP (Journey to Understand MMA and PA) Study is being conducted by HemoShear Therapeutics and AllStripes, a rare disease online research platform.
- Trial name
- JUMP (NCT05438485)
- Testing
- Registry
- Where
- 3 sites in United States, Canada and 1 more
- Volunteers
- 11 people
- Sponsor
- HemoShear Therapeutics
Methylmalonic Acidemia (MMA)
A Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA
This Phase 1/2 study will evaluate the safety and pharmacodynamics (PD) of SEL-302, which consists of the gene transfer vector MMA-101 following administration of an immunomodulatory SEL-110 agent in pediatric subjects with…
- Trial name
- reiMMAgine (NCT05778877)
- Testing
- SEL-302
- Where
- United States
- Sponsor
- Selecta Biosciences, Inc.
Inborn Errors of Metabolism, Pregnancy
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
Background: People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby.
- Conditions
- Inborn Errors of Metabolism, Pregnancy, Acidemias
- Trial name
- NCT02322177
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
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
Propionic Acidemia
A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 Study
The main purpose of this study is to evaluate the long-term safety of mRNA-3927 administered to participants with propionic acidemia (PA) who have previously participated in Study mRNA-3927-P101 (NCT04159103).
- Trial name
- NCT05130437
- Testing
- mRNA-3927
- Where
- 22 sites in United States, Canada and 6 more
- Volunteers
- 50 people
- Sponsor
- ModernaTX, Inc.
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