Collection of Samples and Clinical Data From Patients With Amyloid Diseases

OBJECTIVES:

• To establish and maintain a database of clinical material (i.e., blood, urine, and tissue) and information on patients with amyloid diseases.

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 polymerase chain reaction 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 36-Item Short Form Survey (SF-36).

Inclusion criteria

DISEASE CHARACTERISTICS:

• Diagnosis or suspicion of amyloidosis

PATIENT CHARACTERISTICS:

• Referred to the Amyloid Treatment and Research Center at Boston University Medical Center

PRIOR CONCURRENT THERAPY:

• Not specified

Exclusion criteria

None