Clinical trials: Adenine Phosphoribosyltransferase Deficiency, open to volunteers
AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency
A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Background: Pyrimidine and purine metabolism disorders (DPPMs) affect how the body metabolizes chemicals called pyrimidines and purines.
- Conditions
- AMPD3, OMIM*102772, AMP Deaminase Deficiency, AK1, OMIM *103000, Adenylate Kinase Deficiency, AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency, TPMT, OMIM *187680, Thoipurines, Poor Metabolism of
- Trial name
- NCT06092346
- Where
- United States
- Volunteers
- 999 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hyperoxaluria, Cystinuria
Prospective Research Rare Kidney Stones (ProRKS)
The purpose of this study is to determine the natural history of the hereditary forms of nephrolithiasis and chronic kidney disease (CKD), primary hyperoxaluria (PH), cystinuria, Dent disease and adenine phosphoribosyltransferase…
- Conditions
- Hyperoxaluria, Cystinuria, Dent Disease, Lowe Syndrome
- Trial name
- ProRKS (NCT02780297)
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 220 people
- Sponsor
- Mayo Clinic
Primary Hyperoxaluria, Dent Disease
Rare Kidney Stone Consortium Biobank
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
- Conditions
- Primary Hyperoxaluria, Dent Disease, APRT Deficiency, Cystinuria
- Trial name
- NCT02026388
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- Mayo Clinic
Primary Hyperoxaluria, Dent Disease
Rare Kidney Stone Consortium Patient Registry
The purpose of this study is to collect medical information from a large number of patients in many areas of the world with primary hyperoxaluria (PH), Dent disease, Cystinuria and APRT deficiency.
- Conditions
- Primary Hyperoxaluria, Dent Disease, Cystinuria, APRT Deficiency
- Trial name
- RKSC (NCT00588562)
- Where
- 4 sites in United States, Iceland
- Volunteers
- 730 people
- Sponsor
- Mayo Clinic
Rare Kidney Stone Diseases
Monogenic Kidney Stone - Genetic Testing
This study will attempt to identify the specific gene (coded in the DNA) and changes (mutations) within that gene that are the cause of monogenic kidney stone disease.
- Trial name
- NCT03305835
- Where
- United States
- Volunteers
- 6,000 people
- Sponsor
- Mayo Clinic
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association