Amyloidosis

Summary

Amyloidosis (MONDO:0019065) is a disease (an umbrella term covering 12 Mondo subtypes) with 5 cohort genes (1 GWAS associations across 4 studies) and 143 clinical trials. Top therapeutic interventions include acoramidis, inotersen, and bortezomib.

At a glance

• Prevalence: 1-9 / 100 000 (Korea, Republic of) [Orphanet-validated]
• Umbrella term: 12 Mondo subtypes
• Cohort genes: 5
• GWAS associations: 1
• ClinVar variants: 7
• Clinical trials: 143

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1.91	Korea, Republic of	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	amyloidosis
Mondo ID	MONDO:0019065
EFO	EFO:1001875
MeSH	D000686
Orphanet	69
DOID	DOID:9120
ICD-10-CM	E85
ICD-11	2078467774
NCIT	C2868
SNOMED CT	17602002
UMLS	C0002726
MedGen	272
GARD	0018676
MedDRA	10002022
Is cancer (heuristic)	no

Also known as: amyloid · amyloid disease · amyloidoses · amyloidosis · amyloidosis (disease)

Data availability: 7 ClinVar variants · 1 GWAS association (4 studies) · 1 HPO phenotype.

Disease family

An umbrella term covering 12 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › proteostasis deficiencies › amyloidosis

Related subtypes (3): synucleinopathy, TDP-43 proteinopathy, SQSTM1-related multisystem proteinopathy

Subtypes (12): primary cutaneous amyloidosis, wild type ATTR amyloidosis, ALECT2 amyloidosis, AApoAIV amyloidosis, ABeta2M amyloidosis, AH amyloidosis, hereditary amyloidosis, AL amyloidosis, AA amyloidosis, amyloidosis bronchopulmonary, soft tissue amyloid neoplasm, immunoglobulin heavy-and-light chain

Genetics & variants

GWAS landscape

1 GWAS associations across 4 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs429358	3e-21	APOE	?	2.02

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473227	UK Biobank Whole-Genome Sequencing Consortium	2025	520	457,920	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90481619	Verma A	2024	439	450,702	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435749	Zhou W	2018	108	408,230	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90837527	Koyama S	2025	0	0	Genetics and context for precision health in Greater Boston.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	0

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs429358	19	44908684	T>C	0.05	missense_variant	APOE	3e-21	Tier 1: coding

ClinVar germline variants

7 retrieved; paginated sample, class counts are floors:

2 conflicting classifications of pathogenicity, 1 pathogenic, 1 pathogenic/likely pathogenic, 1 benign/likely benign, 1 likely pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1075407	NM_000371.4(TTR):c.94C>G (p.Leu32Val)	TTR	Pathogenic	criteria provided, multiple submitters, no conflicts
13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3338365	NM_000371.4(TTR):c.236C>T (p.Thr79Ile)	TTR	Likely pathogenic	criteria provided, multiple submitters, no conflicts
568670	NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)	CACNA1C	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
192133	NM_001032283.3(TMPO):c.565+1696C>T	TMPO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
44939	NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)	DSP	Uncertain significance	criteria provided, multiple submitters, no conflicts
191531	NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)	AKAP9	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 23 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TMPO	Orphanet:154	Familial isolated dilated cardiomyopathy
TTR	Orphanet:597939	Euthyroid dysprealbuminemic hyperthyroxinemia
TTR	Orphanet:85447	ATTRV30M amyloidosis
TTR	Orphanet:85451	ATTRV122I amyloidosis
CACNA1C	Orphanet:101016	Romano-Ward syndrome
CACNA1C	Orphanet:130	Brugada syndrome
CACNA1C	Orphanet:528084	Non-specific syndromic intellectual disability
CACNA1C	Orphanet:595098	Timothy syndrome type 1
CACNA1C	Orphanet:595105	Timothy syndrome type 2
CACNA1C	Orphanet:595109	Atypical Timothy syndrome
DSP	Orphanet:154	Familial isolated dilated cardiomyopathy
DSP	Orphanet:158687	Lethal acantholytic erosive disorder
DSP	Orphanet:2032	Idiopathic pulmonary fibrosis
DSP	Orphanet:293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
DSP	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
DSP	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
DSP	Orphanet:369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome
DSP	Orphanet:476096	Erythrokeratodermia-cardiomyopathy syndrome
DSP	Orphanet:50942	Striate palmoplantar keratoderma
DSP	Orphanet:65282	Carvajal syndrome
AKAP9	Orphanet:101016	Romano-Ward syndrome
AKAP9	Orphanet:130	Brugada syndrome

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TMPO	HGNC:11875	ENSG00000120802	P42166	Lamina-associated polypeptide 2, isoform alpha	clinvar
TTR	HGNC:12405	ENSG00000118271	P02766	Transthyretin	clinvar
CACNA1C	HGNC:1390	ENSG00000151067	Q13936	Voltage-dependent L-type calcium channel subunit alpha-1C	clinvar
DSP	HGNC:3052	ENSG00000096696	P15924	Desmoplakin	clinvar
AKAP9	HGNC:379	ENSG00000127914	Q99996	A-kinase anchor protein 9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TMPO	Lamina-associated polypeptide 2, isoform alpha	May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly.
TTR	Transthyretin	Thyroid hormone-binding protein.
CACNA1C	Voltage-dependent L-type calcium channel subunit alpha-1C	Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents.
DSP	Desmoplakin	A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion.
AKAP9	A-kinase anchor protein 9	Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.2

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Ion channel	1	22.3×	0.132
Scaffold/PPI	1	3.5×	0.386
Other/Unknown	3	1.1×	0.608

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TMPO	Other/Unknown	no		LEM_dom, LEM/LEM-like_dom_sf, LEM-like_dom
TTR	Other/Unknown	no		Transthyretin/HIU_hydrolase, Transthyretin/HIU_hydrolase_d, Thyroxine_BS
CACNA1C	Ion channel	yes		VDCCAlpha1, VDCC_L_a1su, VDCC_L_a1csu
DSP	Scaffold/PPI	no		Plectin_repeat, SH3_domain, Spectrin/alpha-actinin
AKAP9	Other/Unknown	no		ELK_dom, PACT_domain, AKAP9/Pericentrin

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
embryo	1
ganglionic eminence	1
ventricular zone	1
choroid plexus epithelium	1
right lobe of liver	1
type B pancreatic cell	1
apex of heart	1
muscle layer of sigmoid colon	1
right coronary artery	1
hair follicle	1
skin of hip	1
upper leg skin	1
bronchial epithelial cell	1
cortical plate	1
jejunal mucosa	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TMPO	287	ubiquitous	marker	ventricular zone, ganglionic eminence, embryo
TTR	185	broad	marker	choroid plexus epithelium, type B pancreatic cell, right lobe of liver
CACNA1C	134	broad	marker	apex of heart, right coronary artery, muscle layer of sigmoid colon
DSP	253	ubiquitous	marker	skin of hip, upper leg skin, hair follicle
AKAP9	292	ubiquitous	marker	jejunal mucosa, bronchial epithelial cell, cortical plate

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TTR	4,528
AKAP9	3,537
CACNA1C	3,145
DSP	2,897
TMPO	1,127

Structural data

PDB: 4 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TTR	P02766	462
CACNA1C	Q13936	33
TMPO	P42166	14
DSP	P15924	4

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
AKAP9	Q99996

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 62. Enrichment computed across 5 evidence-associated genes (5 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Phase 2 - plateau phase	2	304.5×	1e-03	CACNA1C, AKAP9
Defective visual phototransduction due to STRA6 loss of function	1	761.3×	0.025	TTR
Cardiac conduction	2	43.5×	0.025	CACNA1C, AKAP9
Muscle contraction	2	30.9×	0.025	CACNA1C, AKAP9
Phase 3 - rapid repolarisation	1	228.4×	0.050	AKAP9
Apoptotic cleavage of cell adhesion proteins	1	207.6×	0.050	DSP
Depolymerization of the Nuclear Lamina	1	152.3×	0.058	TMPO
Initiation of Nuclear Envelope (NE) Reformation	1	120.2×	0.059	TMPO
The canonical retinoid cycle in rods (twilight vision)	1	103.8×	0.059	TTR
Nuclear Envelope Breakdown	1	91.4×	0.059	TMPO
Adrenaline,noradrenaline inhibits insulin secretion	1	78.8×	0.059	CACNA1C
Phase 0 - rapid depolarisation	1	69.2×	0.059	CACNA1C
NCAM signaling for neurite out-growth	1	54.4×	0.059	CACNA1C
RND1 GTPase cycle	1	53.1×	0.059	DSP
RHOF GTPase cycle	1	51.9×	0.059	TMPO
RND3 GTPase cycle	1	51.9×	0.059	DSP
Centrosome maturation	1	50.8×	0.059	AKAP9
NCAM1 interactions	1	49.6×	0.059	CACNA1C
Oncogenic MAPK signaling	1	49.6×	0.059	AKAP9
Retinoid metabolism and transport	1	49.6×	0.059	TTR
Neutrophil degranulation	2	9.2×	0.059	TTR, DSP
Regulation of insulin secretion	1	43.9×	0.064	CACNA1C
RHOD GTPase cycle	1	40.8×	0.064	TMPO
RHOJ GTPase cycle	1	40.1×	0.064	TMPO
Integration of energy metabolism	1	35.1×	0.065	CACNA1C
Signaling by BRAF and RAF1 fusions	1	34.1×	0.065	AKAP9
Loss of Nlp from mitotic centrosomes	1	31.7×	0.065	AKAP9
Loss of proteins required for interphase microtubule organization from the centrosome	1	31.7×	0.065	AKAP9
Non-integrin membrane-ECM interactions	1	30.9×	0.065	TTR
AURKA Activation by TPX2	1	30.4×	0.065	AKAP9

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of heart rate by cardiac conduction	3	280.9×	4e-06	CACNA1C, DSP, AKAP9
regulation of ventricular cardiac muscle cell action potential	2	702.2×	7e-05	CACNA1C, DSP
calcium ion transmembrane transport via high voltage-gated calcium channel	1	1404.3×	0.006	CACNA1C
membrane depolarization during atrial cardiac muscle cell action potential	1	1404.3×	0.006	CACNA1C
immune system development	1	1053.2×	0.006	CACNA1C
negative regulation of glomerular filtration	1	1053.2×	0.006	TTR
positive regulation of adenylate cyclase activity	1	842.6×	0.006	CACNA1C
membrane depolarization during AV node cell action potential	1	842.6×	0.006	CACNA1C
maintenance of centrosome location	1	702.2×	0.006	AKAP9
ventricular compact myocardium morphogenesis	1	601.9×	0.006	DSP
purine nucleobase metabolic process	1	601.9×	0.006	TTR
positive regulation of muscle contraction	1	601.9×	0.006	CACNA1C
bundle of His cell-Purkinje myocyte adhesion involved in cell communication	1	601.9×	0.006	DSP
desmosome organization	1	526.6×	0.007	DSP
regulation of cardiac muscle cell action potential involved in regulation of contraction	1	468.1×	0.007	AKAP9
protein localization to cell-cell junction	1	468.1×	0.007	DSP
cardiac conduction	1	421.3×	0.007	CACNA1C
peptide cross-linking	1	351.1×	0.007	DSP
membrane depolarization during cardiac muscle cell action potential	1	351.1×	0.007	CACNA1C
cell communication by electrical coupling involved in cardiac conduction	1	351.1×	0.007	CACNA1C
phototransduction, visible light	1	324.1×	0.007	TTR
regulation of membrane repolarization	1	324.1×	0.007	AKAP9
calcium ion transport into cytosol	1	300.9×	0.007	CACNA1C
epithelial cell-cell adhesion	1	300.9×	0.007	DSP
regulation of Golgi organization	1	280.9×	0.007	AKAP9
protein-containing complex localization	1	247.8×	0.008	AKAP9
intermediate filament cytoskeleton organization	1	234.1×	0.008	DSP
regulation of ventricular cardiac muscle cell membrane repolarization	1	210.7×	0.008	AKAP9
cardiac muscle cell action potential involved in contraction	1	175.5×	0.010	CACNA1C
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	1	168.5×	0.010	CACNA1C

Therapeutics

Drugs indicated for this disease

2 approved, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Patisiran Sodium	Approved (phase 4)
Tafamidis	Approved (phase 4)
Bortezomib	Phase 3 (in late-stage trials)
Daratumumab	Phase 3 (in late-stage trials)
Dexamethasone	Phase 3 (in late-stage trials)
Inotersen	Phase 3 (in late-stage trials)
Lenalidomide	Phase 3 (in late-stage trials)
Patisiran	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Birtamimab, Ibrutinib, Idelalisib, Pomalidomide, Venetoclax.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 3

Druggability breadth: 4 of 5 evidence-associated genes (80%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
TTR	TRICLABENDAZOLE
CACNA1C	REMIFENTANIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CACNA1C	85	4
TTR	29	4
TMPO	0	0
DSP	0	0
AKAP9	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TRICLABENDAZOLE	4	TTR
AMLEXANOX	4	TTR
TOLCAPONE	4	TTR
DICLOFENAC	4	TTR
LEVOTHYROXINE	4	TTR
TAFAMIDIS	4	TTR
BENZIODARONE	4	TTR
BITHIONOL	4	TTR
BENZBROMARONE	4	TTR
ACORAMIDIS	4	TTR
GEMFIBROZIL	4	TTR
MECLOFENAMIC ACID	4	TTR
DASATINIB	4	CACNA1C, TTR
DEXTROTHYROXINE	4	TTR
TRICLOSAN	4	TTR
DIFLUNISAL	4	TTR
REMIFENTANIL	4	CACNA1C
BEPRIDIL	4	CACNA1C
CLOTRIMAZOLE	4	CACNA1C
PROPIVERINE	4	CACNA1C
DIBUCAINE	4	CACNA1C
IMIPRAMINE	4	CACNA1C
DULOXETINE	4	CACNA1C
QUINIDINE	4	CACNA1C
ESTRADIOL	4	CACNA1C
TOLTERODINE	4	CACNA1C
PIMOZIDE	4	CACNA1C
NIMODIPINE	4	CACNA1C
NICARDIPINE	4	CACNA1C
AMLODIPINE	4	CACNA1C

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CACNA1C	575	Binding:319, Functional:211, Toxicity:26, ADMET:19
TTR	423	Binding:391, Functional:32
TMPO	7	Binding:7
DSP	2	Binding:2

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TTR	423
CACNA1C	575

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

28 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
TRICLABENDAZOLE	4	TTR
AMLEXANOX	4	TTR
TOLCAPONE	4	TTR
DICLOFENAC	4	TTR
LEVOTHYROXINE	4	TTR
TAFAMIDIS	4	TTR
BENZIODARONE	4	TTR
BITHIONOL	4	TTR
BENZBROMARONE	4	TTR
GEMFIBROZIL	4	TTR
MECLOFENAMIC ACID	4	TTR
DASATINIB	4	CACNA1C, TTR
DEXTROTHYROXINE	4	TTR
TRICLOSAN	4	TTR
REMIFENTANIL	4	CACNA1C
BEPRIDIL	4	CACNA1C
CLOTRIMAZOLE	4	CACNA1C
PROPIVERINE	4	CACNA1C
DIBUCAINE	4	CACNA1C
IMIPRAMINE	4	CACNA1C
DULOXETINE	4	CACNA1C
QUINIDINE	4	CACNA1C
ESTRADIOL	4	CACNA1C
TOLTERODINE	4	CACNA1C
PIMOZIDE	4	CACNA1C
NIMODIPINE	4	CACNA1C
NICARDIPINE	4	CACNA1C
AMLODIPINE	4	CACNA1C

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	TTR, CACNA1C
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	3	TMPO, DSP, AKAP9

Undrugged target profiles

3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TMPO	7	—
DSP	2	—
AKAP9	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 143.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	80
PHASE2	26
PHASE1	13
PHASE3	10
PHASE1/PHASE2	10
EARLY_PHASE1	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT07388602	PHASE3	RECRUITING	A Study to Evaluate the Safety and Efficacy of SCTC21C in Combination With Bortezomib, Cyclophosphamide, and Dexamethasone in Patients With Newly Diagnosed Systemic Light-Chain Amyloidosis (NDSLCA)
NCT01215747	PHASE3	COMPLETED	Efficacy and Safety Study of KIACTA in Preventing Renal Function Decline in AA Amyloidosis
NCT01737398	PHASE2/PHASE3	COMPLETED	Efficacy and Safety of Inotersen in Familial Amyloid Polyneuropathy
NCT01998503	PHASE3	COMPLETED	Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis
NCT02175004	PHASE3	COMPLETED	Extension Study Assessing Long Term Safety and Efficacy of IONIS-TTR Rx in Familial Amyloid Polyneuropathy (FAP)
NCT02510261	PHASE3	COMPLETED	The Study of an Investigational Drug, Patisiran (ALN-TTR02), for the Treatment of Transthyretin (TTR)-Mediated Amyloidosis in Participants Who Have Already Been Treated With ALN-TTR02 (Patisiran)
NCT03201965	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Daratumumab in Combination With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) Compared to CyBorD Alone in Newly Diagnosed Systemic Amyloid Light-chain (AL) Amyloidosis
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04270175	PHASE2	ACTIVE_NOT_RECRUITING	Daratumumab, Pomalidomide, and Dexamethasone (DPd) in Relapsed/Refractory Light Chain Amyloidosis Patients Previously Exposed to Daratumumab
NCT04991103	PHASE2	RECRUITING	Minimal Residual Disease Response-adapted Deferral of Transplant in Dysproteinemia (MILESTONE)
NCT05145816	PHASE1/PHASE2	RECRUITING	Phase 1/2a Study of Belantamab Mafodotin in Relapsed or Refractory AL Amyloidosis
NCT05250973	PHASE2	ACTIVE_NOT_RECRUITING	A Study of Daratumumab-Based Therapies in Participants With Amyloid Light Chain (AL) Amyloidosis
NCT05758493	PHASE2	RECRUITING	Characterizing Iodine-124 Evuzumitide (AT-01) in Systemic Amyloidosis
NCT07081646	PHASE1/PHASE2	RECRUITING	A Phase 1b/2 Study of CAR T Cell Therapy Targeting CD19 and BCMA in Participants With Relapsed or Refractory AL Amyloidosis.
NCT07224672	PHASE2	NOT_YET_RECRUITING	A Study to Evaluate the Efficacy and Safety of Belantamab Mafodotin in Combination With Cyclophosphamide, Bortezomib, and Dexamethasone in Adult Participants With Newly Diagnosed Amyloid Light Chain (AL) Amyloidosis
NCT07285044	PHASE2	RECRUITING	The Cancer Connected Access and Remote Expertise Beyond Walls Program to Provide In-Home Cancer Treatment and Improve Treatment Satisfaction in Cancer Patients Living in the Florida Panhandle and Surrounding Areas
NCT07589595	PHASE2	NOT_YET_RECRUITING	A Study of Donanemab (LY3002813) in Participants With Early Cognitive Decline (TRAILBLAZER-ALZ 7)
NCT00017680	PHASE2	COMPLETED	Study of High-Dose Melphalan and Autologous Stem Cell Transplantation in Patients With Primary Light Chain Amyloidosis
NCT00166413	PHASE2	COMPLETED	Efficacy of CC-5013 (Revlimid or Lenalidomide) in Patients With Primary Systemic Amyloidosis
NCT00186407	PHASE2	COMPLETED	Autologous Stem Cell Rescue for Primary Amyloidosis
NCT00298766	PHASE1/PHASE2	COMPLETED	Open-Label Phase 1/2 Study of VELCADE for Injection in Patients With Light-chain (AL)-Amyloidosis
NCT00607581	PHASE2	COMPLETED	Cyclophosphamide, Lenalidomide and Dexamethasone (CLD) for Previously Treated Patients With AL Amyloidosis
NCT00621400	PHASE1/PHASE2	COMPLETED	Lenalidomide in Combination With Melphalan and Dexamethasone in Newly-diagnosed Light-chain (AL)-Amyloidosis
NCT00981708	PHASE1/PHASE2	COMPLETED	Lenalidomide, Dexamethasone and Cyclophosphamide in Amyloidosis (AL)
NCT01083316	PHASE2	COMPLETED	Bortezomib and Dexamethasone Followed by High-Dose Melphalan and Stem Cell Transplantation for Primary (AL) Amyloidosis
NCT01527032	PHASE2	COMPLETED	Risk-adapted Therapy for Primary Systemic (AL) Amyloidosis
NCT01677286	PHASE2	COMPLETED	Safety and Effect of Doxycycline in Patients With Amyloidosis
NCT01864018	PHASE1/PHASE2	COMPLETED	Ixazomib With Cyclophosphamide and Dexamethasone in Patients With Previously Untreated Symptomatic Multiple Myeloma or Light Chain Amyloidosis
NCT02545907	PHASE1/PHASE2	COMPLETED	A Dose Escalation Study of Carfilzomib Taken With Thalidomide and Dexamethasone in Relapsed AL Amyloidosis
NCT02590588	PHASE2	TERMINATED	Idelalisib for Immunoglobulin M (IgM)-Associated Primary (AL) Amyloidosis
NCT02627820	PHASE2	WITHDRAWN	The Effect of an Antisense Oligonucleotide to Lower Transthyretin (TTR) Levels on the Progression of -Wild-type TTR Involving the Heart
NCT02791373	PHASE2	COMPLETED	Vinorelbine and Gemcitabine in Myeloma
NCT02816476	PHASE2	COMPLETED	Daratumumab Therapy for Patients With Refractory or Relapsed AL Amyloidosis
NCT02924272	PHASE2	COMPLETED	Ixazomib Rollover Study
NCT03019029	PHASE1/PHASE2	COMPLETED	Diagnostic Utility of F-18 Florbetapir PET/MR in Peripheral Nerve Amyloidosis
NCT03044353	PHASE2	TERMINATED	Multiple Treatment Session Study to Assess GSK2398852 Administered Following and Along With GSK2315698
NCT03130348	PHASE2	WITHDRAWN	Ibrutinib With or Without Bortezomib and Dexamethasone in Treating Patients With Relapsed or Refractory Immunoglobulin Light Chain Amyloidosis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ACORAMIDIS	4	4
INOTERSEN	4	4
BORTEZOMIB	4	3
DIFLUNISAL	4	3
BELANTAMAB MAFODOTIN	4	2
DARATUMUMAB	4	2
BENDAMUSTINE HYDROCHLORIDE	4	1
CARFILZOMIB	4	1
DONANEMAB	4	1
FILGRASTIM	4	1
IDELALISIB	4	1
ISATUXIMAB	4	1
IXAZOMIB CITRATE	4	1
MELPHALAN	4	1
BIRTAMIMAB	3	1
IXAZOMIB	3	1
PATISIRAN	3	1
MIRIDESAP	2	6
IODINE I124 EVUZAMITIDE	2	2
ANTILYMPHOCYTE IMMUNOGLOBULIN (HORSE)	2	1
APG-2575	2	1
DEZAMIZUMAB	2	1
NEXIGURAN	2	1
ZICLUMERAN	2	1
GSK-294	1	2
CHEMBL1813256	0	1
CHEMBL5204484	0	1
CHEMBL4095008	0	1
CHEMBL3970001	0	1
CHEMBL454299	0	1