Riboflavin Transporter Deficiency: Clinical Trials

2 trials for Riboflavin Transporter Deficiency, newest first

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1 active not recruiting, 1 completed. .

Follow Riboflavin Transporter Deficiency: new trials by email Literature Review of Riboflavin Transporter Deficiency trials Research Report on Riboflavin Transporter Deficiency

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TrialPhaseStatusSponsorEnrollmentStartUpdated
Baby Detect : Genomic Newborn Screening
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
CompletedCentre Hospitalier Universitaire de Liege68242022-09-012025-08-12
Early Check: Expanded Screening in Newborns
Confirmatory Testing - Spinal Muscular Atrophy, Fragile X Syndrome
Active not recruitingRTI International300002018-10-152026-07-01

Narrower conditions

3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (2)  ·  Acidemia, isovaleric (2)  ·  Anemia, Sickle Cell (2)  ·  Argininosuccinic Aciduria (2)  ·  Ataxia with vitamin E deficiency (2)  ·  Basal ganglia disease, biotin-responsive (2)  ·  Beta ketothiolase deficiency (2)  ·  Biotinidase Deficiency (2)  ·  Brown-Vialetto-Van Laere syndrome (2)  ·  Carbamoyl-Phosphate Synthase I Deficiency Disease (2)  ·  Carnitine palmitoyl transferase 1A deficiency (2)  ·  Carnitine palmitoyl transferase 2 deficiency (2)  ·  Carnitine-Acylcarnitine Translocase Deficiency (2)  ·  Citrullinemia (2)  ·  Congenital Hyperinsulinism (2)

Broader conditions

Abnormalities, Multiple (2)  ·  Albinism (2)  ·  Amino Acid Metabolism, Inborn Errors (2)  ·  Anemia (2)  ·  Anemia, Hemolytic (2)  ·  Anemia, Hemolytic, Congenital (2)  ·  Arrhythmias, Cardiac (2)  ·  Avitaminosis (2)  ·  Basal Ganglia Diseases (2)  ·  Blood Coagulation Disorders (2)  ·  Blood Coagulation Disorders, Inherited (2)  ·  Bone Diseases (2)  ·  Bone Diseases, Developmental (2)  ·  Bone Diseases, Endocrine (2)  ·  Bone Diseases, Metabolic (2)

Sponsors

Centre Hospitalier Universitaire de Liege (1)  ·  RTI International (1)

Countries

Belgium (1)  ·  United States (1)

Top investigators

Curt Scharfe, MD, PhD (1)  ·  Laurent Servais (1)

Results publications

PMID 31315600, PMID 35142618