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Results for “Carnitine Palmitoyl Transferase 1A Deficiency”

5 trials

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Showing 5 of 5 results

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 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 applicableStudy completedNCT00653666
What this trial is testing

Metabolic Consequences of CPT-1 Deficiency

Who this might be right for
Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency
Oregon Health and Science University 12
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