NCT00588562

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
730

participants targeted

Target at P75+ for all trials

Timeline
25mo left

Started Jul 2003

Longer than P75 for all trials

Geographic Reach
2 countries

4 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress92%
Jul 2003Jun 2028

Study Start

First participant enrolled

July 1, 2003

Completed
4.5 years until next milestone

First Submitted

Initial submission to the registry

December 27, 2007

Completed
12 days until next milestone

First Posted

Study publicly available on registry

January 8, 2008

Completed
20.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

June 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2028

Last Updated

July 4, 2025

Status Verified

July 1, 2025

Enrollment Period

24.9 years

First QC Date

December 27, 2007

Last Update Submit

July 2, 2025

Conditions

Primary HyperoxaluriaDent DiseaseCystinuriaAPRT Deficiency

Keywords

PHPH1PH2PH3PHIPHIIPHIIIPH NonI-NonIIPrimary HyperoxaluriaPrimary OxalosisHyperoxaluriaOxalateCystinuriaCystineAPRTAdenine phosphoribosyl transferase deficiencyDent diseaseDent

Outcome Measures

Primary Outcomes (1)

  • Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge

    The patient Registries will expand knowledge of the clinical expression of these disease by systematically accumulating and analyzing information regarding a larger number of patients than have been studied to date.

    Yearly

Secondary Outcomes (1)

  • Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis.

    Yearly

Study Arms (4)

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.

Eligibility Criteria

Age0 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Dent Disease Registry -Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

Primary Hyperoxaluria Registry - Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

Cystinuria Registry - New York University

New York, New York, 10010, United States

RECRUITING

APRT Registry - Landspitali Universtiy Hospital

Reykjavik, Iceland

RECRUITING

MeSH Terms

Conditions

Hyperoxaluria, PrimaryDent DiseaseCystinuriaAdenine phosphoribosyltransferase deficiencyHyperoxaluria

Condition Hierarchy (Ancestors)

Kidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesCarbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesRenal Tubular Transport, Inborn ErrorsGenetic Diseases, X-LinkedRenal Aminoacidurias

Study Officials

  • Dawn S. Milliner, M.D.

    Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN

    PRINCIPAL INVESTIGATOR

  • David Goldfarb, MD

    Cystinuria Registry, New York University, NY

    STUDY DIRECTOR

  • John C Lieske, MD

    Dent Disease Registry, Mayo Clinic, Rochester, MN

    STUDY DIRECTOR

  • Vidar Edvardsson, MD

    APRT Registry, Landspitali University Hospital, Iceland

    STUDY DIRECTOR

Central Study Contacts

Julie B. Olson, RN

CONTACT

507-538-5995rarekidneystones@mayo.edu

Mayo Clinic Hyperoxaluria Center

CONTACT

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

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
M.D.

Study Record Dates

First Submitted

December 27, 2007

First Posted

January 8, 2008

Study Start

July 1, 2003

Primary Completion (Estimated)

June 1, 2028

Study Completion (Estimated)

June 1, 2028

Last Updated

July 4, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will share

Using limited data set, data will be shared through the Data Monitoring and Coordinating Center of the Rare Diseases Clinical Research Network.

Locations

IC(1)US(3)