The Rare Kidney Disease & Vasculitis Registry & Biobank, Ireland

Registration Status: Pending

Objective: This is a pan-Ireland endeavour aimed at recruiting patients with rare kidney disease (prevalence <5/10,000). Although the main focus is on systemic vasculitis, it also includes other rare diseases, including families with undiagnosed genetic kidney disease. Rich, longitudinal clinical data are recorded in an ethically robust online database. Linked clinical samples are processed according to tight standard operating procedures and stored in a registered biobank facility. Every sample has a clearly documented provenance, including number of freeze-thaws and needle to freezer time. Samples include serum, plasma (with and without protease inhibitor), urine (with and without protease inhibitor), Paxgene tubes, PBMCâ€™s and DNA. It is linked to the UKIVAS registry (www.ukivas.org) and the European Vasculitis Society (EUVAS, www.vasculitis.org). It is funded by Science Foundation Ireland and the Dublin Centre for Clinical Research. Access is open to academic and industry collaborators.

Registered Biobank Name	The Rare Kidney Disease & Vasculitis Registry & Biobank
Biobank Leader	Valerie Logan-Biobank Coordinator
Country	Ireland
Email for biobank inquiries	rkdbiobank@tcd.ie
Principal Investigator	Prof. Mark Little
Website	http://www.medicine.tcd.ie/thkc/research/RKD-Registry-Biobank.php
User Type Mono: A biobank that supports a specific research project, may have few staff members, a small-scale accrual scope with little to no initial intention of releasing or distributing biospecimens to secondary parties Oligo: A biobank that supports several research groups or clinical trials, may or may not be designed to release biospecimens outside their collaborative group Poly: A biobank that has generally a larger accrual scope, resources, and multiple users outside the biobank proper	Poly - Collection aimed at supporting undetermined, multiple users with ethics approved research projects, through a defined access/application mechanism.

Biospecimen Collected:

Cohort Highlights

100 cases Next Generation Sequencing assay to detect all classes of genetic variant in Lung Cancer using a single Diagnostic test.
200 cases Colorectal TMA for QC purposes in support of study of tumor infiltrating lymphocytes in ovarian cancer tissues.
Build 300 cases breast cancer TMA containing primary tumour and matched metastatic LN for various subtypes (luminal, HER2, Triple negative). Start with Triple negatives.
125 cases Breast tumour and metastatic lymph nodes in breast cancer cases with outcomes of metastasis to lung or bone.
100 cases of rare tumours - fibrolamellar hepatocellular carcinoma. FFPE, frozen, BC.
200 cases of FFPE tissue sections from breast, lung adenocarcinoma, and lung squamous cell carcinoma with matching normal tissue (only pathology data requested).