Early research (Phase 1)Not Yet RecruitingNCT07643844What this trial is testingAAVrh10-PCCA Gene Therapy for Propionic AcidemiaWho this might be right forPropionic Acidemia Mayo Clinic 9
Not applicableEnrolling By InvitationNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
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
Early research (Phase 1)Study completedNCT01973543What this trial is testingSafety Study of AADC Gene Therapy (VY-AADC01) for Parkinson's DiseaseWho this might be right forParkinson's Disease Neurocrine Biosciences 15
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 applicableLooking for participantsNCT07379463What this trial is testingAmino Acid Transporter System PET/CT Imaging in AATS-Related DiseasesWho this might be right forAmino-Acid Transport DisorderPrimary HyperparathyroidismGlioma Tianjin Medical University 500
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
Early research (Phase 1)Study completedNCT00001328What this trial is testingGene Therapy for the Treatment of Brain TumorsWho this might be right forBrain NeoplasmNeoplasm Metastasis National Institute of Neurological Disorders and Stroke (NINDS) 15
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
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 completedNCT01314560What this trial is testingStudy of the Pathophysiological Mechanisms Involved in Bleeding EventsWho this might be right forOculocerebrorenal Syndrome Assistance Publique - Hôpitaux de Paris 30
Testing effectiveness (Phase 2)Active Not RecruitingNCT05972629What this trial is testingA Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With PhenylketonuriaWho this might be right forPhenylketonuria Sanofi 32
Not applicableLooking for participantsNCT02780297What this trial is testingProspective Research Rare Kidney Stones (ProRKS)Who this might be right forHyperoxaluriaCystinuriaDent Disease+2 more Mayo Clinic 220
Very early researchStudy completedNCT01659645What this trial is testingAnti-1-amino-3-[18F]Fluorocyclobutyl-1-carboxylic Acid (Anti-[18F](FACBC)Positron Emission Tomography (PET-CT) of the BreastWho this might be right forBreast Cancer Emory University 12
Large-scale testing (Phase 3)Active Not RecruitingNCT05345171What this trial is testingClinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) DeficiencyWho this might be right forOTC Deficiency Ultragenyx Pharmaceutical Inc 37
Not applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Testing effectiveness (Phase 2)Ended earlyNCT02418598What this trial is testingAADC Gene Therapy for Parkinson's DiseaseWho this might be right forParkinson Disease Jichi Medical University 2
Early research (Phase 1)Ended earlyNCT00004498What this trial is testingPhase I Study of Adenoviral Vector Mediated Gene Transfer for Ornithine Transcarbamylase in Adults With Partial Ornithine Transcarbamylase DeficiencyWho this might be right forOrnithine Transcarbamylase Deficiency Disease University of Pennsylvania 21