Refractory cytopenia of childhood

Summary

Refractory cytopenia of childhood (MONDO:0044874) is a disease and 19 clinical trials. Top therapeutic interventions include avelumab, belzutifan, and romiplostim. A subtype of refractory hematologic cancer — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 19

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	refractory cytopenia of childhood
Mondo ID	MONDO:0044874
ICD-11	699075426
NCIT	C82596
UMLS	C2826323
MedGen	417430
GARD	0025914
Is cancer (heuristic)	no

Also known as: RCC · refractory cytopenia of childhood

Disease family

This is a subtype of refractory hematologic cancer. 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 etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › refractory hematologic cancer › refractory cytopenia of childhood

Related subtypes (5): refractory hairy cell leukemia, refractory precursor T-lymphoblastic lymphoma/leukemia, refractory plasma cell neoplasm, refractory anemia with excess blasts in transformation, myelodysplastic syndrome with multilineage dysplasia

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: 19.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	5
Not specified	5
PHASE2	4
PHASE1/PHASE2	4
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05931393	PHASE2	RECRUITING	Sequential Treatment of Cabozantinib for Advanced Renal Cell Carcinoma (RCC)
NCT06577961	PHASE1/PHASE2	NOT_YET_RECRUITING	Vorolanib Combined With Cadonilimab in the Treatment of Untreated Advanced RCC Patients
NCT06682793	PHASE1/PHASE2	RECRUITING	A Study to Evaluate the Safety and Efficacy of A2B395, an Allogeneic Logic-gated CAR T, in Participants With Solid Tumors That Express EGFR and Have Lost HLA-A*02 Expression
NCT07611825	PHASE2	NOT_YET_RECRUITING	Gut Microbiota Modulation for Immunotherapy Resensitization in Advanced Renal Cell Carcinoma
NCT02072031	PHASE2	UNKNOWN	Phase II Study of Anlotinib Versus Sunitinib in Patients With Advanced Renal Cell Carcinoma（RCC）
NCT02447887	PHASE1/PHASE2	TERMINATED	Study of Ixazomib With Pegylated IFN-alpha 2b (pIFN) in Metastatic Renal Cell Carcinoma (mRCC)
NCT03035630	PHASE2	WITHDRAWN	Sunitinib Followed by Avelumab or the Reverse for Metastatic Renal Cell Carcinoma
NCT03875313	PHASE1/PHASE2	TERMINATED	Study of CB-839 (Telaglenastat) in Combination With Talazoparib in Patients With Solid Tumors
NCT02293980	PHASE1	ACTIVE_NOT_RECRUITING	A Phase 1, Dose-Escalation Trial of PT2385 Tablets In Patients With Advanced Clear Cell Renal Cell Carcinoma (MK-3795-001)
NCT02974738	PHASE1	ACTIVE_NOT_RECRUITING	A Trial of Belzutifan (PT2977, MK-6482) Tablets In Patients With Advanced Solid Tumors (MK-6482-001)
NCT06259552	PHASE1	RECRUITING	A Study of SPX-303, a Bispecific Antibody Targeting LILRB2 and PD-L1 in Patients With Solid Tumors
NCT07300241	PHASE1	RECRUITING	Open-Label Phase 1/2 Study of NEO-811 in Subjects With Locally Advanced or Metastatic Non-Resectable Clear Cell Renal Cell Carcinoma
NCT03652077	PHASE1	COMPLETED	A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies
NCT04478227	EARLY_PHASE1	COMPLETED	TPO-Mimetic Use in Children for Hematopoietic Failure
NCT05917106	Not specified	RECRUITING	Renal Cancer Monitoring Based on ctDNA Methylomics: A Prospective Cohort Study (MEMORY Study)
NCT06585878	Not specified	NOT_YET_RECRUITING	A Prospective Registry Study of Stereotactic Ablative Radiotherapy (SABR) for Oligometastatic/Oligometastatic Renal Cell Carcinoma
NCT07324876	Not specified	NOT_YET_RECRUITING	A Multicenter Real-World Study on TKI Therapy After Progression on First-Line TKI/IO Therapy or TKI/IO Therapy After Progression on First-Line TKI in Chinese Patients With Metastatic Renal Cell Carcinoma (mRCC)
NCT00682799	Not specified	COMPLETED	Serial Analysis of Chimerism in Patients With Refractory Cytopenia (RC) Transplanted With Reduced Intensity Conditioning (RIC)
NCT03891485	Not specified	COMPLETED	Nivolumab in mRCC Patients: Treg Function, T-cell Access and NK Interactions to Predict and Improve Efficacy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AVELUMAB	4	1
BELZUTIFAN	4	1
ROMIPLOSTIM	4	1
CATEQUENTINIB	3	1
IXAZOMIB	3	1
TELAGLENASTAT	2	1
VERZISTOBART	2	1
VOROLANIB	2	1
CHEMBL275117	0	2
CHEMBL3764816	0	1
CHEMBL5724798	0	1