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NCT Number: NCT00588562

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.

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Key information

Conditions

Primary Hyperoxaluria APRT Deficiency Adenine phosphoribosyltransferase deficiency Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystinuria Dent Disease Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Hyperoxaluria Hyperoxaluria, Primary Kidney Diseases Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Renal Aminoacidurias Renal Tubular Transport, Inborn Errors Urogenital Diseases Urologic Diseases

Age range

0 year–100 year

Sex eligibility

All sexes

Study type

Observational

Primary location

APRT Registry - Landspitali Universtiy Hospital, Reykjavik, Iceland

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

    Time frame: Yearly

    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.

Secondary outcomes

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

    Time frame: Yearly

    The goal of the patient Registries is to collect data about these rare diseases, provide a better understanding of these four conditions and help to develop new treatments.

Study contacts

Contact information is provided by the study sponsor or research team.

Julie B. Olson, RN

CONTACT

[email protected]

507-538-5995

Mayo Clinic Hyperoxaluria Center

CONTACT

[email protected]

1-800-270-4637

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  • National Institutes of Health (NIH)
  • Oxalosis and Hyperoxaluria Foundation (OHF)

Registry information

Official study title

Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases

Acronym: RKSC

Important dates

Study start
2003
Primary completion
2028
Study completion
2028
First posted
Jan 8, 2008
Registry last updated
Jul 10, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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