APRT Deficiency, Cystinuria, Dent Disease, Primary Hyperoxaluria
Conditions
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
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.
Interventions
None listed
Sponsors
Mayo Clinic
National Institutes of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Oxalosis and Hyperoxaluria Foundation (OHF)
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Years to 100 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Establish and expand registries and collaborate with patient organizations for the rapid dissemination of knowledge | 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
| Measure | Time frame | Description |
|---|---|---|
| Improved understanding of symptoms and progression of four major diseases of hereditary nephrolithiasis. | 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. |
Countries
Iceland, United States
Contacts
CONTACTJulie B. Olson, RN
CONTACTMayo Clinic Hyperoxaluria Center
PRINCIPAL_INVESTIGATORDawn S. Milliner, M.D.
Primary Hyperoxaluria Registry - Mayo Clinic, Rochester, MN
STUDY_DIRECTORDavid Goldfarb, MD
Cystinuria Registry, New York University, NY
STUDY_DIRECTORJohn C Lieske, MD
Dent Disease Registry, Mayo Clinic, Rochester, MN
STUDY_DIRECTORVidar Edvardsson, MD
APRT Registry, Landspitali University Hospital, Iceland
Outcome results
None listed