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Results for “Carnitine-acylcarnitine Translocase Deficiency”

10 trials

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Showing 10 of 10 results

Not applicableLooking for participantsNCT04602325
What this trial is testing

Systemic Biomarkers of Brain Injury From Hyperammonemia

Who this might be right for
Urea Cycle DisorderOrganic AcidemiaMaple Syrup Urine Disease+3 more
Children's National Research Institute 24
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
Not applicableEnrolling By InvitationNCT03655223
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 applicableActive Not RecruitingNCT04632953
What this trial is testing

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 150
Large-scale testing (Phase 3)Active Not RecruitingNCT05933200
What this trial is testing

Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 69
Not applicableEnded earlyNCT04812106
What this trial is testing

Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 8
Not applicableUnknownNCT05910151
What this trial is testing

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Who this might be right for
Propionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more
West Kazakhstan Medical University 2,250
Not applicableStudy completedNCT00328159
What this trial is testing

Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids

Who this might be right for
Inborn Errors of Metabolism
Assistance Publique - Hôpitaux de Paris 20
Not applicableAvailableNCT03773770
What this trial is testing

Expanded Access to Triheptanoin

Who this might be right for
Long Chain Fatty Acid Oxidation Disorders
Ultragenyx Pharmaceutical Inc
Testing effectiveness (Phase 2)Study completedNCT02214160
What this trial is testing

Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies

Who this might be right for
Carnitine Palmitoyltransferase (CPT I or CPT II) DeficiencyVery Long Chain Acyl-CoA Dehydrogenase (VLCAD) DeficiencyLong-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency+2 more
Ultragenyx Pharmaceutical Inc 94