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Results for “Isolated Methylmalonic Acidemia”

30 trials

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Showing 20 of 30 results

Not applicableStudy completedNCT05330039
What this trial is testing

Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)

Who this might be right for
Inborn Errors of MetabolismPropionic AciduriaMethylmalonic Aciduria+1 more
Emma Marie Caroline Slack 22
Not applicableLooking for participantsNCT07432880
What this trial is testing

A Prospective Study of Pediatric Participants up to 16 Years of Age With Methylmalonic Acidemia (MMA) Due to Mutations in the MMUT Gene

Who this might be right for
Methylmalonic Acidemia (MMA)
Genespire Srl 30
Not applicableLooking for participantsNCT05040178
What this trial is testing

An Observational Study of Carbaglu® for the Treatment of MMA and PA in Adults and Pediatrics

Who this might be right for
HyperammonemiaMethylmalonic AcidemiaPropionic Acidemia
RECORDATI GROUP 20
Large-scale testing (Phase 3)Not Yet RecruitingNCT07163364
What this trial is testing

Evaluate the Effects and Safety of Hydroxocobalamin in Participants With Combined Methylmalonic Academia (cblC Type)

Who this might be right for
Methylmalonic Acidemia (MMA)
CSPC ZhongQi Pharmaceutical Technology Co., Ltd. 20
Not applicableLooking for participantsNCT04880356
What this trial is testing

Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.

Who this might be right for
Inherited DiseaseRare DiseasesMetabolic Disease+3 more
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta 100
Not applicableStudy completedNCT03484767
What this trial is testing

"The MaP Study": Mapping the Patient Journey in MMA and PA

Who this might be right for
Methylmalonic AcidemiaPropionic Acidemia
ModernaTX, Inc. 97
Not applicableStudy completedNCT05687474
What this trial is testing

Baby Detect : Genomic Newborn Screening

Who this might be right for
Congenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more
Centre Hospitalier Universitaire de Liege 6,824
Testing effectiveness (Phase 2)Study completedNCT01599286
What this trial is testing

Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia

Who this might be right for
Propionic Acidemia, Type I and/or Type IIMethylmalonic AcidemiaCarbamoyl-Phosphate Synthase I Deficiency Disease+1 more
Mendel Tuchman 35
Testing effectiveness (Phase 2)Study completedNCT01624311
What this trial is testing

Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants

Who this might be right for
Urea Cycle DisordersOrganic Acidemias
Uta Lichter-Konecki 5
Testing effectiveness (Phase 2)Ended earlyNCT04732429
What this trial is testing

Study of HST5040 in Subjects With Propionic or Methylmalonic Acidemia

Who this might be right for
Methylmalonic AcidemiaPropionic Acidemia
HemoShear Therapeutics 26
Not applicableStudy completedNCT04284917
What this trial is testing

Long-term Efficacy of Carglumic Acid in Organic Acidemia.

Who this might be right for
Propionic Acidemia (PA) , Methylmalonic Acidemia (MMA)
National Taiwan University Hospital 3
Not applicableNot Yet RecruitingNCT06664840
What this trial is testing

MyRareDiet A Novel Diet Tracking Tool

Who this might be right for
Urea Cycle DisorderPropionic AciduriaMaple Syrup Urine Disease+1 more
Oregon Health and Science University 60
Not applicableActive Not RecruitingNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableEnded earlyNCT05438485
What this trial is testing

Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia

Who this might be right for
Methylmalonic AcidemiaPropionic Acidemia
HemoShear Therapeutics 11
Not applicableUnknownNCT01289158
What this trial is testing

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

Who this might be right for
Malonic AciduriaMethylmalonic Acidemia
McGill University Health Centre/Research Institute of the McGill University Health Centre 6
Testing effectiveness (Phase 2)WithdrawnNCT05778877
What this trial is testing

Evaluate the Safety, Tolerability, and Pharmacodynamics of SEL-302 in Pediatric Subjects With MMA

Who this might be right for
Methylmalonic Acidemia (MMA)
Selecta Biosciences, Inc.
Testing effectiveness (Phase 2)WithdrawnNCT03810690
What this trial is testing

Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia

Who this might be right for
Methylmalonic Acidemia (MMA)Metabolism, Inborn Errors
ModernaTX, Inc.
Not applicableLooking for participantsNCT00078078
What this trial is testing

Clinical and Laboratory Study of Methylmalonic Acidemia

Who this might be right for
Organic AcidemiaMethylmalonic AcidemiaInborn Errors of Metabolism
National Human Genome Research Institute (NHGRI) 2,275
Not applicableActive Not RecruitingNCT05506254
What this trial is testing

Long-term Follow-up Study of Patients Who Received hLB-001 Gene Therapy

Who this might be right for
Methylmalonic Acidemia
Alexion Pharmaceuticals, Inc. 4
Testing effectiveness (Phase 2)Ended earlyNCT01141075
What this trial is testing

Ataluren for Nonsense Mutation Methylmalonic Acidemia

Who this might be right for
Amino Acid Metabolism, Inborn Errors
PTC Therapeutics 11
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