APRT Deficiency

2

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

Condition / disease
Location
Status: Recruiting

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.

Participants needed: 2,000
Trial details
Biological sex: AllType: ObservationalSponsor: Mayo ClinicUpdated: Jul 22, 2025Locations: 1
Eligibility criteria

Liver biopsy documenting alanine-glyoxylate aminotransferase (AGT) activity belo... [+13]

Stone formers who do not meet the inclusion criteria for primary hyperoxaluria,... [+1]

Status: Recruiting

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. This information will create a registry that will help us to compare similarities and differences in patients and their symptoms. The more patients we are able to enter into the registry, the more we will be able to understand the Primary Hyperoxalurias,Dent disease, cystinuria and APRT and learn better ways of caring for patients with these diseases.

Participants needed: 730
Trial details
Age: 0-100Biological sex: AllType: ObservationalSponsor: Mayo ClinicUpdated: Jul 4, 2025Locations: 4
Eligibility criteria

Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Dise... [+1]

Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or A...