Rare Kidney Stone Consortium Patient Registry

NCT ID: NCT00588562

Last Updated: 2025-07-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

730 participants

Study Classification

OBSERVATIONAL

Study Start Date

2003-07-31

Study Completion Date

2028-06-30

Brief Summary

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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.

Detailed Description

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This study involves the collection of medical information to create a computer database or registry for patients with PH, Dent disease, cystinuria and APRT deficiency. The information will be entered into the registry by your physician or health care provider. The computer web site for the registry is secure and protected by a required password. Some information which will be entered may include your age at first symptoms of PH,Dent disease, cystinuria or APRT, laboratory values, kidney function and the progress of your health over time. Information for an individual patient can only be viewed by the appropriate physician or staff. Once the information is entered into the registry, you will only be identified by a code number.

Conditions

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Primary Hyperoxaluria Dent Disease Cystinuria APRT Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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Primary Hyperoxaluria patients

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

No interventions assigned to this group

Dent Disease Patients

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

No interventions assigned to this group

Cystinuria Patients

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

No interventions assigned to this group

APRT deficiency Patients

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

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

0 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institutes of Health (NIH)

NIH

Sponsor Role collaborator

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

NIH

Sponsor Role collaborator

Oxalosis and Hyperoxaluria Foundation (OHF)

OTHER

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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John Lieske

M.D.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Dawn S. Milliner, M.D.

Role: PRINCIPAL_INVESTIGATOR

Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN

David Goldfarb, MD

Role: STUDY_DIRECTOR

Cystinuria Registry, New York University, NY

John C Lieske, MD

Role: STUDY_DIRECTOR

Dent Disease Registry, Mayo Clinic, Rochester, MN

Vidar Edvardsson, MD

Role: STUDY_DIRECTOR

APRT Registry, Landspitali University Hospital, Iceland

Locations

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Dent Disease Registry -Mayo Clinic

Rochester, Minnesota, United States

Site Status RECRUITING

Primary Hyperoxaluria Registry - Mayo Clinic

Rochester, Minnesota, United States

Site Status RECRUITING

Cystinuria Registry - New York University

New York, New York, United States

Site Status RECRUITING

APRT Registry - Landspitali Universtiy Hospital

Reykjavik, , Iceland

Site Status RECRUITING

Countries

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United States Iceland

Central Contacts

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Julie B. Olson, RN

Role: CONTACT

507-538-5995

Mayo Clinic Hyperoxaluria Center

Role: CONTACT

1-800-270-4637

Facility Contacts

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Barb M Seide, Study Coord

Role: primary

800-270-4637

Julie B Olson, RN Coord

Role: backup

800-270-4637

Barb M Seide, Study Coord

Role: primary

800-270-4637

Julie B Olson, RN Coord

Role: backup

800-270-4637

David Goldfarb, MD

Role: primary

212-263-0744

Frank Modersitzki, MPH

Role: backup

216-686-7500 ext. 6379

Vidar Edvardsson, MD

Role: primary

354-824-5227

Runolfur Palsson, MD

Role: backup

354-824-5227

Other Identifiers

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1U54DK083908-01

Identifier Type: NIH

Identifier Source: secondary_id

View Link

11-001702

Identifier Type: -

Identifier Source: org_study_id

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