Testing effectiveness (Phase 2)Active Not RecruitingNCT04480567What this trial is testingAAV Gene Therapy Study for Subjects with PKUWho this might be right forPhenylketonuria (PKU) BioMarin Pharmaceutical 100
Early research (Phase 1)Looking for participantsNCT07643844What this trial is testingAAVrh10-PCCA Gene Therapy for Propionic AcidemiaWho this might be right forPropionic Acidemia Mayo Clinic 9
Not applicableLooking for participantsNCT04602325What this trial is testingSystemic Biomarkers of Brain Injury From HyperammonemiaWho this might be right forUrea Cycle DisorderOrganic AcidemiaMaple Syrup Urine Disease+3 more Children's National Research Institute 24
Not applicableStudy completedNCT00359515What this trial is testingGenetic Analysis of Oculocerebrorenal Syndrome of LoweWho this might be right forLowe Syndrome National Human Genome Research Institute (NHGRI) 120
Not applicableStudy completedNCT01574287What this trial is testingAnti-3-[18F]FACBC Imaging of Parathyroid AdenomasWho this might be right forParathyroid Disease David M. Schuster, MD 4
Not applicableLooking for participantsNCT06065852What this trial is testingNational Registry of Rare Kidney DiseasesWho this might be right forAdenine Phosphoribosyltransferase DeficiencyAH AmyloidosisAHL Amyloidosis+81 more UK Kidney Association 35,000
Not applicableActive Not RecruitingNCT03636438What this trial is testingLong Term Follow Up to Evaluate DTX301 in Adults With Late-Onset OTC DeficiencyWho this might be right forOrnithine Transcarbamylase (OTC) Deficiency Ultragenyx Pharmaceutical Inc 11