Essential thrombocythemia

Summary

Essential thrombocythemia (MONDO:0005029) is a disease with 2 cohort genes and 102 clinical trials. Molecularly, CALR EXON 9 FRAMESHIFT confers sensitivity to Peginterferon Alfa-2a in Essential Thrombocythemia (CIViC Level B). Top therapeutic interventions include anagrelide, foscarnet, and pacritinib.

At a glance

• Prevalence: 1-5 / 10 000 (United States) [Orphanet-validated]
• Cohort genes: 2
• ClinVar variants: 710
• Phenotypes (HPO): 30
• Clinical trials: 102
• Precision-medicine evidence (CIViC): 1 subtype–drug association

Clinical features

Epidemiology

Prevalence records

5 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.48	Europe	Validated
Annual incidence	1-9 / 100 000	1.55	Sweden	Validated
Point prevalence	1-5 / 10 000	24	United States	Validated
Point prevalence	1-5 / 10 000	30	Sweden	Validated
Point prevalence	1-5 / 10 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

30 HPO clinical features (Orphanet curated; top 30 by frequency):

HPO ID	Term	Frequency
HP:0001658	Myocardial infarction	Very frequent (80-99%)
HP:0001872	Abnormality of thrombocytes	Very frequent (80-99%)
HP:0001894	Thrombocytosis	Very frequent (80-99%)
HP:0003010	Prolonged bleeding time	Very frequent (80-99%)
HP:0003401	Paresthesia	Very frequent (80-99%)
HP:0004420	Arterial thrombosis	Very frequent (80-99%)
HP:0004936	Venous thrombosis	Very frequent (80-99%)
HP:0005513	Increased megakaryocyte count	Very frequent (80-99%)
HP:0005561	Abnormality of bone marrow cell morphology	Very frequent (80-99%)
HP:0011875	Abnormal platelet morphology	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0031388	Megakaryocyte nucleus hyperlobulation	Very frequent (80-99%)
HP:0100576	Amaurosis fugax	Very frequent (80-99%)
HP:0100659	Abnormality of the cerebral vasculature	Very frequent (80-99%)
HP:0100749	Chest pain	Very frequent (80-99%)
HP:0001892	Abnormal bleeding	Frequent (30-79%)
HP:0002076	Migraine	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0002315	Headache	Frequent (30-79%)
HP:0002321	Vertigo	Frequent (30-79%)
HP:0100785	Insomnia	Frequent (30-79%)
HP:0000505	Visual impairment	Occasional (5-29%)
HP:0000978	Bruising susceptibility	Occasional (5-29%)
HP:0001974	Leukocytosis	Occasional (5-29%)
HP:0002326	Transient ischemic attack	Occasional (5-29%)
HP:0002488	Acute leukemia	Occasional (5-29%)
HP:0002863	Myelodysplasia	Occasional (5-29%)
HP:0011974	Myelofibrosis	Occasional (5-29%)
HP:0030243	Hepatic vein thrombosis	Occasional (5-29%)
HP:0032147	Erythromelalgia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	essential thrombocythemia
Mondo ID	MONDO:0005029
EFO	EFO:0000479
MeSH	D013920
Orphanet	3318
DOID	DOID:2224
ICD-10-CM	D47.3
NCIT	C3407
SNOMED CT	109994006
UMLS	C0040028
MedGen	11797
GARD	0006594
MedDRA	10015493
NORD	1110
Is cancer (heuristic)	no

Also known as: essential thrombocytemia · essential thrombocythemia · essential thrombocytosis · ET · idiopathic thrombocythemia · primary thrombocythemia · primary thrombocytosis

Data availability: 710 ClinVar variants · 5 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood platelet disease › thrombocytosis disease › essential thrombocythemia

Related subtypes (2): familial thrombocytosis, reactive thrombocytosis

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

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

335 likely benign, 131 uncertain significance, 54 pathogenic, 31 pathogenic/likely pathogenic, 22 conflicting classifications of pathogenicity, 16 likely pathogenic, 9 benign/likely benign, 2 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1068628	NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069689	NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069872	NM_005373.3(MPL):c.230del (p.Cys77fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071039	NM_005373.3(MPL):c.603_606del (p.His201fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072100	NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072257	NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072631	NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)	MPL	Pathogenic	criteria provided, single submitter
1073154	NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073761	NM_005373.3(MPL):c.252del (p.Met84fs)	MPL	Pathogenic	criteria provided, single submitter
1074655	NM_005373.3(MPL):c.1025del (p.Pro342fs)	MPL	Pathogenic	criteria provided, single submitter
1075094	NM_005373.3(MPL):c.308del (p.Leu103fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1301356	NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	MPL	Pathogenic	criteria provided, multiple submitters, no conflicts
1338502	NM_005373.3(MPL):c.313_316del (p.Phe105fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
134819	NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Pathogenic	criteria provided, multiple submitters, no conflicts
134831	NM_005373.3(MPL):c.744_747dup (p.Asn250fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
135563	NM_005373.3(MPL):c.79+2T>A	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1360846	NM_005373.3(MPL):c.1814_1817del (p.Ser605fs)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1368759	NM_005373.3(MPL):c.842del (p.Pro281fs)	MPL	Pathogenic	criteria provided, single submitter
1381492	NM_005373.3(MPL):c.605dup (p.Ala203fs)	MPL	Pathogenic	criteria provided, single submitter
1382942	NM_005373.3(MPL):c.1346dup (p.Glu450fs)	MPL	Pathogenic	criteria provided, single submitter
1395269	NM_005373.3(MPL):c.972_973del (p.Asp326fs)	MPL	Pathogenic	criteria provided, single submitter
14156	NM_005373.3(MPL):c.769C>T (p.Arg257Cys)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14157	NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL	Pathogenic	criteria provided, multiple submitters, no conflicts
14163	NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)	MPL	Pathogenic	criteria provided, multiple submitters, no conflicts
1416785	NM_005373.3(MPL):c.478G>T (p.Glu160Ter)	MPL	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1436487	NM_005373.3(MPL):c.1248G>A (p.Trp416Ter)	MPL	Pathogenic	criteria provided, single submitter
1442900	NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)	MPL	Pathogenic	criteria provided, single submitter
1448576	NM_005373.3(MPL):c.190C>T (p.Gln64Ter)	MPL	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CALR	Orphanet:131	Budd-Chiari syndrome
CALR	Orphanet:3318	Essential thrombocythemia
CALR	Orphanet:824	Primary myelofibrosis
MPL	Orphanet:3318	Essential thrombocythemia
MPL	Orphanet:3319	Congenital amegakaryocytic thrombocytopenia
MPL	Orphanet:397692	Hereditary isolated aplastic anemia
MPL	Orphanet:71493	Familial thrombocytosis
MPL	Orphanet:824	Primary myelofibrosis

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CALR	HGNC:1455	ENSG00000179218	P27797	Calreticulin	civic_evidence
MPL	HGNC:7217	ENSG00000117400	P40238	Thrombopoietin receptor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CALR	Calreticulin	Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle.
MPL	Thrombopoietin receptor	Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.5

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
Antibody/Immunoglobulin	1	14.6×	0.135
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CALR	Other/Unknown	no		Calret/calnex, Calreticulin/calnexin_P_dom_sf, Calreticulin
MPL	Antibody/Immunoglobulin	yes		Long_hematopoietin_rcpt_CS, FN3_dom, Ig-like_fold

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left lobe of thyroid gland	1
right lobe of thyroid gland	1
stromal cell of endometrium	1
male germ line stem cell (sensu Vertebrata) in testis	1
monocyte	1
mononuclear cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CALR	289	ubiquitous	marker	stromal cell of endometrium, left lobe of thyroid gland, right lobe of thyroid gland
MPL	166	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, mononuclear cell, monocyte

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CALR	6,185
MPL	1,039

Intra-cohort edges

A	B	Sources
CALR	MPL	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CALR	P27797	10
MPL	P40238	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 28. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Virus Assembly and Release	1	2855.0×	0.005	CALR
Assembly of Viral Components at the Budding Site	1	2855.0×	0.005	CALR
Scavenging by Class F Receptors	1	951.7×	0.007	CALR
ATF6 (ATF6-alpha) activates chaperones	1	951.7×	0.007	CALR
ATF6 (ATF6-alpha) activates chaperone genes	1	571.0×	0.010	CALR
Calnexin/calreticulin cycle	1	356.9×	0.013	CALR
Scavenging by Class A Receptors	1	300.5×	0.013	CALR
Binding and Uptake of Ligands by Scavenger Receptors	1	271.9×	0.013	CALR
Platelet Aggregation (Plug Formation)	1	219.6×	0.013	MPL
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1	211.5×	0.013	CALR
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	1	196.9×	0.013	CALR
Unfolded Protein Response (UPR)	1	178.4×	0.013	CALR
Antigen processing-Cross presentation	1	158.6×	0.014	CALR
Maturation of DENV proteins	1	105.7×	0.019	CALR
Influenza Infection	1	87.8×	0.021	CALR
ER-Phagosome pathway	1	64.9×	0.027	CALR
Class I MHC mediated antigen processing & presentation	1	35.0×	0.047	CALR
Asparagine N-linked glycosylation	1	30.1×	0.051	CALR
Cellular responses to stress	1	18.4×	0.079	CALR
Vesicle-mediated transport	1	17.4×	0.079	CALR
Cellular responses to stimuli	1	15.7×	0.080	CALR
Viral Infection Pathways	1	15.4×	0.080	CALR
Adaptive Immune System	1	14.9×	0.080	CALR
Infectious disease	1	12.4×	0.092	CALR
Post-translational protein modification	1	9.6×	0.114	CALR
Disease	1	6.5×	0.154	CALR
Immune System	1	6.5×	0.154	CALR
Metabolism of proteins	1	6.2×	0.155	CALR

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
basophil homeostasis	1	8426.0×	0.003	MPL
positive regulation of platelet formation	1	4213.0×	0.003	MPL
monocyte homeostasis	1	2808.7×	0.003	MPL
response to biphenyl	1	2808.7×	0.003	CALR
eosinophil homeostasis	1	2808.7×	0.003	MPL
negative regulation of intracellular steroid hormone receptor signaling pathway	1	2106.5×	0.003	CALR
nuclear receptor-mediated glucocorticoid signaling pathway	1	2106.5×	0.003	CALR
obsolete sequestering of calcium ion	1	1685.2×	0.003	CALR
peptide antigen assembly with MHC class I protein complex	1	1404.3×	0.003	CALR
regulation of meiotic nuclear division	1	1203.7×	0.003	CALR
negative regulation of trophoblast cell migration	1	1203.7×	0.003	CALR
response to glycoside	1	1203.7×	0.003	CALR
thrombopoietin-mediated signaling pathway	1	1053.2×	0.003	MPL
positive regulation of dendritic cell chemotaxis	1	1053.2×	0.003	CALR
positive regulation of lymphocyte proliferation	1	936.2×	0.004	MPL
neutrophil homeostasis	1	766.0×	0.004	MPL
negative regulation of retinoic acid receptor signaling pathway	1	766.0×	0.004	CALR
protein folding in endoplasmic reticulum	1	702.2×	0.004	CALR
cellular response to electrical stimulus	1	648.1×	0.004	CALR
cellular response to lithium ion	1	561.7×	0.004	CALR
response to peptide	1	561.7×	0.004	CALR
platelet formation	1	351.1×	0.007	MPL
cardiac muscle cell differentiation	1	337.0×	0.007	CALR
cortical actin cytoskeleton organization	1	300.9×	0.007	CALR
protein export from nucleus	1	255.3×	0.008	CALR
response to testosterone	1	234.1×	0.008	CALR
positive regulation of cell cycle	1	221.7×	0.009	CALR
positive regulation of substrate adhesion-dependent cell spreading	1	187.2×	0.010	CALR
protein localization to nucleus	1	175.5×	0.010	CALR
positive regulation of phagocytosis	1	159.0×	0.011	CALR

Therapeutics

Drugs indicated for this disease

0 approved, 10 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Anagrelide	Phase 3 (in late-stage trials)
Aspirin	Phase 3 (in late-stage trials)
Bomedemstat	Phase 3 (in late-stage trials)
Busulfan	Phase 3 (in late-stage trials)
Hydroxyurea	Phase 3 (in late-stage trials)
Interferon Alfa	Phase 3 (in late-stage trials)
PEGINTERFERON ALFA-2A	Phase 3 (in late-stage trials)
PEGINTERFERON ALFA-2B	Phase 3 (in late-stage trials)
ROPEGINTERFERON ALFA-2B	Phase 3 (in late-stage trials)
Ruxolitinib	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Imetelstat, Lenalidomide, Lestaurtinib, Momelotinib, Navtemadlin, Prednisone, Tipifarnib, Vorinostat.

Drug target analysis

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

Druggability breadth: 2 of 2 evidence-associated genes (100%) 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
MPL	LUSUTROMBOPAG

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MPL	2	4
CALR	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
LUSUTROMBOPAG	4	MPL
ELTROMBOPAG	4	MPL

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
MPL	23	Functional:15, Binding:7, ADMET:1
CALR	1	Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

2 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)
LUSUTROMBOPAG	4	MPL
ELTROMBOPAG	4	MPL

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	MPL
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	1	CALR

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CALR	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 102.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	37
PHASE2	28
PHASE1	15
PHASE1/PHASE2	10
PHASE3	9
PHASE4	1
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03232177	PHASE4	COMPLETED	Anagre Cap. in Patients With High-Risk Essential Thrombocythemia
NCT04285086	PHASE3	ACTIVE_NOT_RECRUITING	Ropeginterferon Alfa-2b (P1101) vs. Anagrelide in Essential Thrombocythemia Patients With Hydroxyurea Resistance or Intolerance
NCT05198960	PHASE3	RECRUITING	AVAJAK: Apixaban/Rivaroxaban Versus Aspirin for Primary Prevention of Thrombo-embolic Complications in JAK2V617F-positive Myeloproliferative Neoplasms
NCT06079879	PHASE3	RECRUITING	A Study of Bomedemstat (IMG-7289/MK-3543) Compared to Best Available Therapy (BAT) in Participants With Essential Thrombocythemia and an Inadequate Response or Intolerance of Hydroxyurea (MK-3543-006)
NCT06456346	PHASE3	RECRUITING	Bomedemstat vs Hydroxyurea for Essential Thrombocythemia (MK-3543-007)
NCT01214915	PHASE3	COMPLETED	Effect of SPD422 on Platelet Lowering and Safety in Japanese Adults With At Risk Essential Thrombocythaemia
NCT01387763	PHASE3	COMPLETED	A Study of Low Dose Interferon Alpha Versus Hydroxyurea in Treatment of Chronic Myeloid Neoplasms
NCT01467661	PHASE3	COMPLETED	Long-term Safety of SPD422 in Japanese Adults With Essential Thrombocythaemia
NCT02076815	PHASE3	COMPLETED	Anagrelide Retard in Essential Thrombocythemia
NCT02611973	PHASE3	UNKNOWN	Hydroxyurea Versus Aspirin and Hydroxyurea in Essential Thrombocythemia
NCT02962388	PHASE2/PHASE3	TERMINATED	The Ruxolitinib Versus Best Available Therapy Trial in Patients With High Risk ET in Second Line
NCT02577926	PHASE2	ACTIVE_NOT_RECRUITING	The Ruxo-BEAT Trial in Patients With High-risk Polycythemia Vera or High-risk Essential Thrombocythemia
NCT03289910	PHASE2	ACTIVE_NOT_RECRUITING	Topotecan Hydrochloride and Carboplatin With or Without Veliparib in Treating Advanced Myeloproliferative Disorders and Acute Myeloid Leukemia or Chronic Myelomonocytic Leukemia
NCT03862157	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia
NCT04262141	PHASE2	ACTIVE_NOT_RECRUITING	IMG-7289 in Patients With Essential Thrombocythemia (ET) or Polycythemia Vera (PV)
NCT04282187	PHASE2	RECRUITING	Decitabine With Ruxolitinib, Fedratinib or Pacritinib for the Treatment of Accelerated/Blast Phase Myeloproliferative Neoplasms
NCT04644211	PHASE2	RECRUITING	Ruxolitinib in Thrombocythemia and Polycythemia Vera
NCT05031897	PHASE2	RECRUITING	Two Step Haplo With Radiation Conditioning
NCT05123365	PHASE1/PHASE2	RECRUITING	An Optimal Dose Finding Study of N-Acetylcysteine in Patients With Myeloproliferative Neoplasms
NCT05482971	PHASE2	ACTIVE_NOT_RECRUITING	A Single-arm, Multicenter Study to Assess the Efficacy, Safety, and Tolerability of P1101 in Adults With ET
NCT06063486	PHASE2	RECRUITING	Curcumin to Improve Inflammation and Symptoms in Patients With Clonal Cytopenia of Undetermined Significance, Low Risk Myelodysplastic Syndrome, and Myeloproliferative Neoplasms
NCT06541249	PHASE2	RECRUITING	MethoTRExATE in MyelOpRolifErative Neoplasms (TREATMORE) Trial
NCT06552429	PHASE2	RECRUITING	Peginterferon α-2b Injection for Hydroxyurea Resistant or Intolerant ET
NCT07612280	PHASE1/PHASE2	RECRUITING	Phase 1/ Phase 2 Study to Assess Safety and Efficacy of Orally Administered JBI-802 in Subjects With Myeloproliferative Neoplasms (MPN) and Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN) With Thrombocytosis
NCT00039416	PHASE2	COMPLETED	Imatinib Mesylate in Treating Patients With Myelofibrosis
NCT00047190	PHASE2	COMPLETED	Tipifarnib in Treating Patients With Myelofibrosis and Myeloid Metaplasia
NCT00052520	PHASE1/PHASE2	COMPLETED	Biological Therapy in Treating Patients With Advanced Myelodysplastic Syndrome, Acute or Chronic Myeloid Leukemia, or Acute Lymphoblastic Leukemia Who Are Undergoing Stem Cell Transplantation
NCT00089011	PHASE2	COMPLETED	Tacrolimus and Mycophenolate Mofetil in Preventing Graft-Versus-Host Disease in Patients Who Have Undergone Total-Body Irradiation With or Without Fludarabine Phosphate Followed by Donor Peripheral Blood Stem Cell Transplant for Hematologic Cancer
NCT00227591	PHASE2	COMPLETED	Lenalidomide and Prednisone in Treating Patients With Myelofibrosis
NCT00381550	PHASE2	COMPLETED	3-AP and Fludarabine in Treating Patients With Myeloproliferative Disorders, Chronic Myelomonocytic Leukemia, or Accelerated Phase or Blastic Phase Chronic Myelogenous Leukemia
NCT00397813	PHASE2	COMPLETED	Fludarabine Phosphate and Total Body Irradiation Followed by a Donor Peripheral Stem Cell Transplant in Treating Patients With Myelodysplastic Syndromes or Myeloproliferative Disorders
NCT00489203	PHASE2	COMPLETED	Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer
NCT00586651	PHASE2	COMPLETED	Open-Label Study of Oral CEP-701 (Lestaurtinib) in Patients With Polycythemia Vera or Essential Thrombocytosis
NCT00668421	PHASE1/PHASE2	UNKNOWN	CEP-701 (Lestaurtinib) in Myelofibrosis
NCT00745550	PHASE1/PHASE2	COMPLETED	A Phase 1/2 Study of Oral SB1518 in Subjects With Chronic Idiopathic Myelofibrosis
NCT00866762	PHASE2	UNKNOWN	A Study of the Efficacy of MK-0683 in Patients With Polycythaemia Vera and Essential Thrombocythaemia
NCT01243073	PHASE2	COMPLETED	Open Label Study to Evaluate the Activity of Imetelstat in Patients With Essential Thrombocythemia or Polycythemia Vera
NCT01384513	PHASE2	COMPLETED	A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies
NCT01787552	PHASE1/PHASE2	COMPLETED	A Phase Ib/II Dose-finding Study to Assess the Safety and Efficacy of LDE225 + INC424 in Patients With MF
NCT01998828	PHASE2	TERMINATED	Safety and Efficacy of Momelotinib in Subjects With Polycythemia Vera or Essential Thrombocythemia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ANAGRELIDE	4	15
FOSCARNET	4	4
PACRITINIB	4	3
RUXOLITINIB	4	3
AZACITIDINE	4	2
HYDROXYUREA	4	2
MOMELOTINIB	4	2
PEGINTERFERON ALFA-2A	4	2
SONIDEGIB	4	2
BECLOMETHASONE DIPROPIONATE	4	1
BUSULFAN	4	1
CEDAZURIDINE	4	1
FEDRATINIB	4	1
GANCICLOVIR	4	1
IMATINIB	4	1
MIRABEGRON	4	1
PEGINTERFERON ALFA-2B	4	1
ROPEGINTERFERON ALFA-2B	4	1
TOPOTECAN HYDROCHLORIDE	4	1
VALGANCICLOVIR	4	1
BOMEDEMSTAT	3	4
VELIPARIB	3	4
LESTAURTINIB	3	2
CURCUMIN	3	1
IDASANUTLIN	3	1
IMETELSTAT	3	1
INTERFERON ALFA	3	1
PELABRESIB	3	1
PEVONEDISTAT	3	1
TIPIFARNIB	3	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 1 predictive associations from 1 curated evidence items; also 2 diagnostic, 2 prognostic.

Molecular subtype	Therapy	Effect	Level	CIViC
CALR EXON 9 FRAMESHIFT	Peginterferon Alfa-2a	Sensitivity/Response	CIViC B	EID1482