Primary systemic amyloidosis
diseaseOn this page
Also known as systemic AL amyloidosissystemic amyloidosissystemic Immunoglobulin Light chain amyloidosis
Summary
Primary systemic amyloidosis (MONDO:0017816) is a disease and 28 clinical trials. Top therapeutic interventions include dexamethasone, foscarnet, and melphalan. A subtype of AL amyloidosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
- Clinical trials: 28
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 30 | Europe | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | primary systemic amyloidosis |
| Mondo ID | MONDO:0017816 |
| Orphanet | 314701 |
| NCIT | C8299 |
| SNOMED CT | 89449005 |
| UMLS | C0281479 |
| MedGen | 129028 |
| GARD | 0017431 |
| Is cancer (heuristic) | no |
Also known as: systemic AL amyloidosis · systemic amyloidosis · systemic Immunoglobulin Light chain amyloidosis
Disease family
This is a subtype of AL amyloidosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › AL amyloidosis › primary systemic amyloidosis
Related subtypes (1): primary localized amyloidosis
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 28.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE2 | 9 |
| Not specified | 9 |
| PHASE1 | 5 |
| PHASE3 | 3 |
| PHASE1/PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00344526 | PHASE3 | COMPLETED | Intensive Versus Conventional Treatment in Patients With Primary Amyloidosis |
| NCT01078454 | PHASE3 | COMPLETED | Melphalan and Dexamethasone With or Without Bortezomib in Treating Patients With Previously Untreated Systemic Light-Chain Amyloidosis |
| NCT02312206 | PHASE3 | TERMINATED | The VITAL Amyloidosis Study, a Global Phase 3, Efficacy and Safety Study of NEOD001 in Patients With AL Amyloidosis |
| NCT06342466 | PHASE2 | RECRUITING | Bortezomib, Pomalidomide, Dexamethasone for Systemic AL Amyloidosis |
| NCT00006251 | PHASE1/PHASE2 | COMPLETED | Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer |
| NCT00224393 | PHASE2 | COMPLETED | Phase II Trial of Enbrel in Patients With Primary Systemic Amyloidosis |
| NCT00520767 | PHASE2 | COMPLETED | Bortezomib, Melphalan, and Dexamethasone in Treating Patients With Primary Amyloidosis or Light Chain Deposition Disease |
| NCT01072773 | PHASE2 | COMPLETED | Bortezomib, Cyclophosphamide, and Dexamethasone in Treating Patients With Primary Systemic Light Chain Amyloidosis |
| NCT01194791 | PHASE2 | COMPLETED | Lendexal in Patients With Primary Systemic Amyloidosis (AL) Newly Diagnosed |
| NCT01849783 | PHASE2 | COMPLETED | Autologous Stem Cell Transplant Followed By Maintenance Therapy in Treating Elderly Patients With Multiple Myeloma |
| NCT02207556 | PHASE2 | COMPLETED | Doxycycline to Upgrade Organ Response in Light Chain (AL) Amyloidosis Trial |
| NCT03499808 | PHASE2 | COMPLETED | S1702 Isatuximab in Treating Patients With Relapsed or Refractory Primary Amyloidosis |
| NCT03678259 | PHASE1/PHASE2 | COMPLETED | 124I-p5+14 Injection Safety in Subjects With Systemic Amyloidosis |
| NCT05968846 | PHASE2 | COMPLETED | Repeat PET/CT Imaging of Patients With Amyloid 124I-AT-01 to Measure Changes in Organ-specific Amyloid Load |
| NCT00025415 | PHASE1 | COMPLETED | Imatinib Mesylate in Treating Patients With Advanced Cancer and Liver Dysfunction |
| NCT00030381 | PHASE1 | TERMINATED | Iododoxorubicin in Treating Patients With Primary Systemic Amyloidosis |
| NCT00890747 | PHASE1 | COMPLETED | Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy |
| NCT01728259 | PHASE1 | TERMINATED | First-line Pomalidomide, Bortezomib, and Dexamethasone For AL Amyloidosis or LCDD |
| NCT05951816 | PHASE1 | UNKNOWN | A Phase 1 Study of 99mTc-p5+14 in Healthy Volunteers and Patients With AL or ATTR Systemic Amyloidosis |
| NCT01199562 | Not specified | ACTIVE_NOT_RECRUITING | Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant |
| NCT06627309 | Not specified | RECRUITING | Rapid dFLC Response Predict CHR in AL Amyloidosis |
| NCT00014235 | Not specified | COMPLETED | Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies |
| NCT00112593 | Not specified | COMPLETED | Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer |
| NCT00536601 | Not specified | COMPLETED | High-Dose Chemotherapy With or Without Total-Body Irradiation Followed by Autologous Stem Cell Transplant in Treating Patients With Hematologic Cancer or Solid Tumors |
| NCT01053494 | Not specified | COMPLETED | Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer |
| NCT04006223 | Not specified | UNKNOWN | The Diagnostic Value of Hybrid PET/MR for Systemic Amyloidosis |
| NCT05150353 | Not specified | UNKNOWN | Detection of Amyloid Deposits in the Wrist by MRI With Mapping and High Resolution Sequences in Systemic Amyloidosis (AMYLOCARP) |
| NCT06186167 | Not specified | UNKNOWN | Amyloidosis Incidence in High-Risk Cardiac Device Patients |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DEXAMETHASONE | 4 | 9 |
| FOSCARNET | 4 | 4 |
| MELPHALAN | 4 | 2 |
| BORTEZOMIB | 4 | 1 |
| GANCICLOVIR | 4 | 1 |
| ISATUXIMAB | 4 | 1 |
| VALGANCICLOVIR | 4 | 1 |
| BIRTAMIMAB | 3 | 1 |