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: