Not applicableLooking for participantsNCT03305835What this trial is testingMonogenic Kidney Stone - Genetic TestingWho this might be right forRare Kidney Stone Diseases Mayo Clinic 6,000
Not applicableStudy completedNCT02124395What this trial is testingHealth-related Quality of Life in Rare Kidney StoneWho this might be right forPrimary HyperoxaluriaCystinuriaAdenine Phosphoribosyl Transferase Deficiency+1 more NYU Langone Health 365
Not applicableLooking for participantsNCT06092346What this trial is testingA Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism DisordersWho this might be right forAMPD3, OMIM*102772, AMP Deaminase DeficiencyAK1, OMIM *103000, Adenylate Kinase DeficiencyAMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency+25 more National Human Genome Research Institute (NHGRI)
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 applicableLooking for participantsNCT02780297What this trial is testingProspective Research Rare Kidney Stones (ProRKS)Who this might be right forHyperoxaluriaCystinuriaDent Disease+2 more Mayo Clinic 220
Not applicableLooking for participantsNCT02026388What this trial is testingRare Kidney Stone Consortium BiobankWho this might be right forPrimary HyperoxaluriaDent DiseaseAPRT Deficiency+1 more Mayo Clinic 2,000
Post-approval studies (Phase 4)Study completedNCT02752633What this trial is testingEffect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine ExcretionWho this might be right forAdenine Phosphoribosyltransferase Deficiency Landspitali University Hospital 9
Not applicableLooking for participantsNCT00588562What this trial is testingRare Kidney Stone Consortium Patient RegistryWho this might be right forPrimary HyperoxaluriaDent DiseaseCystinuria+1 more Mayo Clinic 730
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