Recruiting

Observational Study

Sponsor:

Mayo Clinic

Code:

NCT00588562

Conditions

Primary Hyperoxaluria

Dent Disease

Cystinuria

APRT Deficiency

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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.

Conditions

Primary Hyperoxaluria

Dent Disease

Cystinuria

APRT Deficiency

Study ID

NCT00588562

Start date

Jul, 2003

Status verified date

Jul, 2026

Completion date

Jun, 2028

Anticipated

Primary completion date

Jun, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Individuals must have a definitive diagnosis of Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.
  • Individuals have a family history of a sibling with Primary Hyperoxaluria,Dent Disease, Cystinuria or APRT Deficiency.

Exclusion Criteria:

  • Individuals who do not have Primary Hyperoxaluria, Dent Disease, Cystinuria or APRT Deficiency.

Study Design

Enrollment

730 participants

Anticipated

Interventions and Outcome Measures

Arms

Primary Hyperoxaluria patients

Registry will include data on patients with confirmed diagnosis of Primary Hyperoxaluria.

Dent Disease Patients

Registry will include data on patients with confirmed diagnosis of Dent Disease.

Cystinuria Patients

Registry will include data on patients with confirmed diagnosis of Cystinuria.

APRT deficiency Patients

Registry will include data on patients with confirmed diagnosis of APRT deficiency.

Primary outcome measure

  • Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge [ Time Frame: Yearly ]

Central Contacts and Locations

Central contacts

Julie B. Olson, RN

507-538-5995rarekidneystones@mayo.edu

Mayo Clinic Hyperoxaluria Center

1-800-270-4637hyperoxaluriacenter@mayo.edu

Locations

Dent Disease Registry -Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Barb M Seide, Study Coord

800-270-4637rarekidneystones@mayo.edu

Julie B Olson, RN Coord

800-270-4637rarekidneystones@mayo.edu

Principal Investigator:

John C Lieske, MD

Primary Hyperoxaluria Registry - Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

Contacts

Barb M Seide, Study Coord

800-270-4637hyperoxaluriacenter@mayo.edu

Julie B Olson, RN Coord

800-270-4637hyperoxaluriacenter@mayo.edu

Principal Investigator:

Dawn S. Milliner, MD

Cystinuria Registry - New York University

Recruiting

New York, New York, United States, 10010

Contacts

David Goldfarb, MD

212-263-0744David.Goldfarb@va.gov

Frank Modersitzki, MPH

216-686-7500Frank.Modersitzki@nyumc.org

Principal Investigator:

David Goldfarb, MD

More Information

Sponsor

Mayo Clinic

Last update posted

Jul 10, 2026

Last verified

Jul, 2026

Keywords

  • PH
  • PH1
  • PH2
  • PH3
  • PHI
  • PHII
  • PHIII
  • PH NonI-NonII
  • Primary Hyperoxaluria
  • Primary Oxalosis
  • Hyperoxaluria
  • Oxalate
  • Cystinuria
  • Cystine
  • APRT
  • Adenine phosphoribosyl transferase deficiency
  • Dent disease
  • Dent

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2026-07-10.