The purpose of this study is to make samples available for use in research for the study of the following hereditary kidney stone diseases studied by the Rare Kidney Stone Consortium (RKSC):
- APRT deficiency and dihydroxyadeninuria
- Dent disease
- Enteric hyperoxaluria
- Primary hyperoxaluria (PH)
Individuals who have been diagnosed with the diseases listed above will be asked to provide biological samples (blood, urine, or tissue) that will be stored in a Biobank. The Biobank is also referred to as a Repository, (a facility that collects and stores samples of biological materials like blood, urine, tissue or cells for laboratory research). All venipunctures (blood draws), urine collections and any tissue samples will be obtained in the course of routine clinical testing. Extra venipunctures or collections will not be required.
The Biobank collects, stores, and distributes biological samples and associated information from people with many kinds of disorders, from unaffected family members, and from other healthy people. The Biobank is a resource of samples that can be used to improve our ability to diagnose and treat the diseases mentioned above.
Biobank samples will give scientists valuable research material that can help them to develop new diagnostic tests, treatments, and ways to prevent diseases.
To insure patient confidentiality, subject’s names and all personal identifying information, such as address, social security number, and date of birth, will be removed. Each Biobank sample will be given a code number. Biobank staff and scientists will have some information about you, such as age, sex, race and diagnosis.
The research questions are:
- Can new tests be developed to help identify factors leading to kidney injury and kidney failure for patients with Dent disease, primary hyperoxaluria (PH), enteric hyperoxaluria (EH), cystinuria or APRT deficiency?
- Can new treatments or new ways to treat patients with Dent disease, primary hyperoxaluria (PH), enteric hyperoxaluria (EH), cystinuria or APRT deficiency be discovered?
- What clues can be discovered about efforts that can change the severity of these diseases?
About this Study
The purpose of this study is to obtain high quality biologic samples from patients with primary hyperoxaluria, enteric hyperoxaluria, cystinuria, APRT deficiency, or Dent disease, and from their family members. These samples will be saved for use in future research.
This study will advance RKSC’s understanding of the diseases mentioned above and factors associated with kidney injury. The overall goal will be to develop new treatments directed at preservation of kidney function and reducing nephrocalcinosis (too much calcium deposited in the kidneys) and stone formation.
The plan is to have 730 people take part in this multi-center study. The target goal of participants (patients or family members) by disease is:
- 150 participants who have primary hyperoxaluria,
- 300 participants with cystinuria,
- 70 participants with APRT deficiency, and
- 100 participants with DENT disease.
Participants will remain in this longitudinal study (study that takes place over time); unless they decide they no longer wish to participate.
If you are a participant in the cystinuria, Dent or hyperoxaluria Biobank, your samples will be kept at Mayo Clinic. Researchers at Mayo who are not involved with this study may ask to use your sample for more research. This sample will also be saved and used as a Biobank sample for use in future research at Mayo, as well as other sites participating in the RKSC or Rare Diseases Clinical Research Network. You have a say in how your stored sample is used in future research and your preference will be noted on the consent form.
All samples from the APRT Deficiency Biobank will be stored in Landspitali at The National University Hospital of Iceland in Reykjavik, where the APRT Deficiency Program is located.
Subjects who agree to be in the study will be asked to participate in the following:
- Sign a consent form indicating your willingness to participate in this Biobank
- Provide a Biobank sample (blood, urine and any tissue samples) that will be obtained in the course of routine clinical testing.
- By signing the consent form, you are giving us permission to collect the following tests/information from your medical record:
- Demographics (sex, date of birth, ethnicity, country of residence)
- Signs and symptoms at time of diagnosis
- Signs and symptoms at time of registry enrollment (may be the same or different at diagnosis)
- Diagnostic procedures and test results at time of diagnosis
- Diagnostic procedures and test results at the time or when you begin participation in this study.
- Family history of stone disease, kidney failure
- Initial treatment and response to your disease
- Dates of major events (end stage renal disease, dialysis, transplant, death)
- Annual updates regarding vital status, renal function, recurrent stones, nephrocalcinosis, urinary chemistry profile, and current treatments
To be eligible to participate, you must meet one of the following criteria:
- Be a patient with a diagnosis of primary hyperoxaluria, enteric hyperoxaluria, cystinuria, APRT deficiency, or Dent disease as confirmed by criteria established for the RKSC disease registries for each of these conditions. Patients of all ages will be included.
- Be a biological family member of a patient with primary hyperoxaluria, enteric hyperoxaluria, cystinuria, APRT deficiency, or Dent disease. Participants of all ages will be included.
You are not eligible to participate if:
- You are not a patient who has been diagnosed with PH, EH, Dent disease, APRT deficiency, or cystinuria.
- You are not a family member of a patient diagnosed with PH, Dent disease, ARPT deficiency or cystinuria.
- You are unwilling or unable to provide informed consent in order to be able to participate.
How to participate
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
Mayo Clinic College of Medicine, Rochester
Contact: Julie Olson, Barb Seide and Alicia Meek
Mayo Clinic Florida, Jacksonville
Contact: Arta Palaj
New York University School of Medicine
Contact: Frank Modersitzki
Phone: 212-686-7500 Ext: 6379
Landspitali – The National University Hospital of Iceland, Reykjavik
Contact: Inger M. Sch. Agustsdottir, RN
Phone: +354 543-1000 (paging operator)