Trial Information

Data, Tissue, Blood, and Urine Repository for Amyloid Diseases

OBJECTIVES:

- To establish and maintain a database of clinical material (i.e., blood, urine, and
tissue) and information on patients with primary systemic amyloidosis.

OUTLINE: Blood, urine, tissue, and bone marrow samples are collected during standard
laboratory evaluations to maintain a repository of biospecimens in the Gerry Amyloid
Research Laboratory, to permit the correlation of clinical results with measured biological
events, and for future research studies. Bone marrow RNA samples are examined for
immunoglobulin light-chain gene sequences and amino acids by PCR and positional cloning.
Blood serum and urine samples are evaluated for amyloid protein stability by high-resolution
calorimetry, isothermal-titration calorimetry, and far- and near-UV circular dichroism and
fluorescence spectroscopy. Urine samples are also examined for post-translational
modifications (e.g., glycosylation, sulfation, and cross-linking) to identify common
features unique to amyloid proteins. Tissue samples are analyzed for biochemical and
biophysical properties and for post-translational modifications in light chains.

Quality of life is assessed by the SF36 questionnaire.