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Results for “Adenine Phosphoribosyltransferase Deficiency”

9 trials

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Showing 9 of 9 results

Not applicableStudy completedNCT02124395
What this trial is testing

Health-related Quality of Life in Rare Kidney Stone

Who this might be right for
Primary HyperoxaluriaCystinuriaAdenine Phosphoribosyl Transferase Deficiency+1 more
NYU Langone Health 365
Not applicableLooking for participantsNCT02026388
What this trial is testing

Rare Kidney Stone Consortium Biobank

Who this might be right for
Primary HyperoxaluriaDent DiseaseAPRT Deficiency+1 more
Mayo Clinic 2,000
Not applicableLooking for participantsNCT06065852
What this trial is testing

National Registry of Rare Kidney Diseases

Who this might be right for
Adenine Phosphoribosyltransferase DeficiencyAH AmyloidosisAHL Amyloidosis+81 more
UK Kidney Association 35,000
Not applicableLooking for participantsNCT00588562
What this trial is testing

Rare Kidney Stone Consortium Patient Registry

Who this might be right for
Primary HyperoxaluriaDent DiseaseCystinuria+1 more
Mayo Clinic 730
Not applicableLooking for participantsNCT06092346
What this trial is testing

A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

Who this might be right for
AMPD3, 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 applicableActive Not RecruitingNCT03655223
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
Post-approval studies (Phase 4)Study completedNCT02752633
What this trial is testing

Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion

Who this might be right for
Adenine Phosphoribosyltransferase Deficiency
Landspitali University Hospital 9
Not applicableLooking for participantsNCT03305835
What this trial is testing

Monogenic Kidney Stone - Genetic Testing

Who this might be right for
Rare Kidney Stone Diseases
Mayo Clinic 6,000
Not applicableLooking for participantsNCT02780297
What this trial is testing

Prospective Research Rare Kidney Stones (ProRKS)

Who this might be right for
HyperoxaluriaCystinuriaDent Disease+2 more
Mayo Clinic 220
999