Clinical trials: Methylmalonic Acidemia
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.
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
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
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.
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.
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, 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
Methylmalonic Acidemia (MMA)
A Study to Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)
This study is a Single-Center, Single-Arm, open-label, Phase III clinical study to evaluate the efficacy, safety characteristics of Hydroxocobalamin Chloride Injection (20 mg/mL) for Maintenance Therapy in participants with…
- Trial name
- NCT07163364
- Testing
- Hydroxocobalamin Chloride Injection
- Volunteers
- 20 people
- Sponsor
- CSPC ZhongQi Pharmaceutical Technology Co., Ltd.
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
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.
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
Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia
Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic acidemia (MMA), late-onset CPS1…
- Conditions
- Propionic Acidemia, Type I and/or Type II, Methylmalonic Acidemia, Carbamoyl-Phosphate Synthase I Deficiency Disease, Ornithine Carbamoyltransferase Deficiency
- Trial name
- STO (NCT01599286)
- Testing
- Carbaglu
- Where
- 9 sites in United States
- Volunteers
- 35 people
- Sponsor
- Mendel Tuchman
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.
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
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
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
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
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
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