Clinical trial NCT00588562: Rare Kidney Stone Consortium Patient Registry
Official title: Rare Kidney Stone Consortium Registry for Hereditary Kidney Stone Diseases
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Hyperoxaluria
Dent Disease
Cystinuria
APRT Deficiency
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
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
name: Oxalosis and Hyperoxaluria Foundation (OHF)
First posted: 2008-01-08
Enrollment: 730
Sex: ALL
Minimum age (years): 0
Maximum age (years): 100
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Individuals with Primary Hyperoxaluria, Dent Disease, Cystinuria and APRT Deficiency.

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.

Detailed description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge
timeFrame: Yearly
Secondary outcomes:
measure: Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis.
timeFrame: Yearly
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Dent Disease Registry -Mayo Clinic
state: Minnesota
city: Rochester
country: United States
facility: Primary Hyperoxaluria Registry - Mayo Clinic
state: Minnesota
city: New York
country: United States
facility: Cystinuria Registry - New York University
state: New York
city: Reykjavik
country: Iceland
facility: APRT Registry - Landspitali Universtiy Hospital
Study officials:
affiliation: Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN
name: Dawn S. Milliner, M.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: Cystinuria Registry, New York University, NY
name: David Goldfarb, MD
role: STUDY_DIRECTOR
affiliation: Dent Disease Registry, Mayo Clinic, Rochester, MN
name: John C Lieske, MD
role: STUDY_DIRECTOR
affiliation: APRT Registry, Landspitali University Hospital, Iceland
name: Vidar Edvardsson, MD
role: STUDY_DIRECTOR
References: