Adenine Phosphoribosyltransferase Deficiency

2

Review clinical trials related to Adenine Phosphoribosyltransferase Deficiency. Use filters to narrow results by trial status, phase, treatment, biological sex and sponsor.

Condition / disease
Location
Status: Recruiting

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 deficiency (APRTd) and acquired enteric hyperoxaluria (EH). The investigator will measure blood and urinary markers of inflammation and determine relationship to the disease course. Cross-comparisons among the disorders will allow us to better evaluate mechanisms of renal dysfunction in these disorders.

Participants needed: 220
Trial details
Biological sex: AllType: ObservationalSponsor: Mayo ClinicUpdated: Aug 6, 2025Locations: 11
Eligibility criteria

Diagnosis of primary hyperoxaluria [+6]

Prior renal failure [+1]

Status: Recruiting

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. The purpose of this research is to: * Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. * Audit treatments and outcomes. An audit makes checks to see if what should be done is being done and asks if it could be done better. * Further the development of future treatments. Participants will be invited to participate on clinical trials and other studies. The registry has the capacity to feedback relevant information to patients and in conjunction with Patient Knows Best (Home - Patients Know Best), allows patients to provide information themselves, including their own reported quality of life and outcome measures.

Participants needed: 35,000
Trial details
Biological sex: AllType: ObservationalSponsor: UK Kidney AssociationUpdated: Oct 4, 2023Locations: 1Duration: 30 Years
Eligibility criteria

Kidney Rare Disease [+3]