Biobank Protocol, Rare Diseases Clinical Research Network
This study is being done to obtain samples from patients with primary hyperoxaluria, cystinuria, adenine phosphoribosyl transferase (APRT) deficiency, and Dent disease, and from their family members, for use in future research.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Biobank Protocol, Rare Diseases Clinical Research Network|
- Number of samples stored in tissue bank [ Time Frame: 4 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
Urine, blood and tissue samples
|Study Start Date:||May 2013|
|Estimated Study Completion Date:||June 2020|
|Estimated Primary Completion Date:||June 2020 (Final data collection date for primary outcome measure)|
Diagnosis of Primary Hyperoxaluria, or a family member of someone with this diagnosis.
Diagnosis of Dent Disease, or a family member of someone with this diagnosis.
Diagnosis of Cystinuria, or a family member of someone with this diagnosis.
Diagnosis of APRT Deficiency, or a family member of someone with this diagnosis.
Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation.
|Contact: Alicia M Meekfirstname.lastname@example.org|
|Contact: Barbara M Seideemail@example.com|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Contact: Alicia M Meek 507-255-4347 firstname.lastname@example.org|
|Contact: Barbara M Seide 507-255-0387 email@example.com|
|Principal Investigator: Dawn S Milliner, M.D.|
|Principal Investigator:||Dawn S Milliner, M.D.||Mayo Clinic|