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| ID | Type | Description | Link |
|---|---|---|---|
| IUSM-831215 |
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| Name | Class |
|---|---|
| Indiana University | OTHER |
OBJECTIVES: I. Analyze prospectively the course of amyloid deposition in patients with primary, secondary, myeloma-associated, and hereditary amyloidosis.
II. Determine abnormalities of humoral and delayed-type hypersensitivity in these patients.
III. Identify prognostic factors in hereditary amyloidosis and develop tests for genetic defects associated with systemic amyloidosis.
IV. Diagnose familial amyloidotic polyneuropathy (FAP) prior to symptom onset. V. Validate the correlation of low serum prealbumin and retinol binding protein levels with amyloidosis in patients with FAP.
PROTOCOL OUTLINE: Patients receive a comprehensive evaluation with an emphasis on identifying prognostic and diagnostic factors. Assessments include gastrointestinal, renal, hematologic, dermatologic, cardiac, and serologic studies. Immunologic studies include antinuclear antibody, latex fixation, and serum and urine electrophoresis.
Genetic trees are constructed using detailed family history data; blood and urine samples are routinely collected from relatives. Family members of patients with familial amyloidotic polyneuropathy type II (Indiana type) undergo a flexor retinaculum biopsy of the wrist.
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PROTOCOL ENTRY CRITERIA:
--Disease Characteristics-- Systemic amyloidosis, i.e.: Primary, myeloma associated Secondary, e.g., associated with the following conditions: Rheumatoid arthritis Inflammatory bowel disease
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| Name | Affiliation | Role |
|---|---|---|
| Merrill D. Benson | Indiana University | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Indiana University Cancer Center | Recruiting | Indianapolis | Indiana | 46202-5265 | United States |
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| ID | Term |
|---|---|
| D000686 | Amyloidosis |
| D001168 | Arthritis |
| D003240 | Connective Tissue Diseases |
| D030342 | Genetic Diseases, Inborn |
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D057165 | Proteostasis Deficiencies |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D007592 | Joint Diseases |
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| D009140 | Musculoskeletal Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |