Clinical trials: Neonatal Acidemia
Methylmalonic Acidemia
A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic Acidemia
This is a study of mRNA-3705 in participants with isolated elevated methylmalonic acid (MMA) due to methylmalonyl-coenzyme A (CoA) mutase (MUT) deficiency.
- Trial name
- NCT04899310
- Testing
- mRNA-3705
- Where
- 11 sites in United States, Canada and 4 more
- Volunteers
- 18 people
- Sponsor
- ModernaTX, Inc.
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.
Propionic Acidemia
AAVrh10-PCCA Gene Therapy for Propionic Acidemia
Propionic acidemia is a genetic metabolic disorder characterized by metabolic acidosis, ketosis, vomiting, lethargy, cognitive impairment, and risk of death.
- Trial name
- NCT07643844
- Testing
- AAVrh10-PCCA low dose, AAVrh10-PCCA middle dose, AAVrh10-PCCA high dose
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- Mayo Clinic
Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment.
- Conditions
- Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease, Retinopathy
- Trial name
- NCT01793090
- Testing
- Epi-743
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
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.
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
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
Neonatal Acidemia and Hypoxia
Evaluation of Neonatal Acute Hypoxia at Delivery Using Fetal Physiology and Eucapnic pH Assessment
This study aims to improve understanding of how fetuses respond to oxygen deprivation during labor by re-evaluating cardiotocography (CTG) recordings using a physiology-based interpretation approach and comparing these findings…
- Trial name
- NOAH (NCT07629271)
- Where
- Italy
- Volunteers
- 1,000 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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, 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
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
The primary objective of this study is to evaluate the long-term safety and clinical activity of mRNA-3705 administered to participants with isolated methylmalonic acidemia (MMA) due to methylmalonyl-coenzyme A mutase (MUT)…
- Trial name
- NCT05295433
- Testing
- mRNA-3705
- Where
- 12 sites in United States, Canada and 4 more
- Volunteers
- 56 people
- Sponsor
- ModernaTX, Inc.
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.
Lactic Acidosis
Phase II Pilot Randomized Study of Sodium Dichloroacetate in Patients With Congenital Lactic Acidemia
OBJECTIVES: I. Determine the pharmacokinetics of sodium dichloroacetate (DCA) in patients with congenital lactic acidemia. II. Determine the efficacy of DCA in decreasing the frequency and/or severity of acute episodes of…
- Trial name
- NCT00004493
- Testing
- sodium dichloroacetate
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- University of California, San Diego
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Methylmalonic Acidemia (MMA), Metabolism, Inborn Errors
Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia
This First-in-Human (FIH) Phase 1/2 study will evaluate mRNA-3704 in patients with methylmalonic acidemia/aciduria (MMA) due to methylmalonyl-coenzyme A mutase (MUT) deficiency between 1 to 18 years of age with elevated plasma…
- Trial name
- NCT03810690
- Testing
- mRNA-3704
- Sponsor
- ModernaTX, Inc.
Propionic Acidemia, Methylmalonic Acidemia
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Background: Very few drugs exist that treat hyperammonemia, specifically PA and MMA. Diet restrictions and alternate pathway agents are the current primary treatments, but they frequently fail to prohibit brain damage.
- Trial name
- NCT01597440
- Testing
- N-carbamylglutamate, Standard of Care
- Where
- 7 sites in United States
- Volunteers
- 1 people
- Sponsor
- Mendel Tuchman
Propionic Acidemia
Review of Charts From Amish/Mennonite Variant PA Patients
The natural history of patients with PA-AMV has not been systematically studied before and there is no published data in the literature about this condition since 1980.
- Trial name
- NCT03159026
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- University of Pittsburgh
Mitochondrial Myopathy, MELAS Syndrome
Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia
OBJECTIVES: I. Study the metabolism of pyruvate and related problems in patients with lactic acidemia. II. Define the nature of the metabolic defect.
- Conditions
- Mitochondrial Myopathy, MELAS Syndrome, Lactic Acidosis
- Trial name
- NCT00004353
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
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