Childhood medulloblastoma

Summary

Childhood medulloblastoma (MONDO:0002797) is a disease with 5 cohort genes and 188 clinical trials. Molecularly, PTCH1 LOH confers sensitivity to Vismodegib in Medulloblastoma (CIViC Level B); 8 further subtype–drug associations are mapped below. Top therapeutic interventions include cisplatin, lomustine, and sonidegib.

At a glance

• Cohort genes: 5
• Clinical trials: 188
• Precision-medicine evidence (CIViC): 9 subtype–drug associations

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	childhood medulloblastoma
Mondo ID	MONDO:0002797
DOID	DOID:3869
NCIT	C3997
UMLS	C0278510
MedGen	75829
GARD	0009350
Is cancer (heuristic)	no

Also known as: childhood medulloblastoma · medulloblastoma · medulloblastoma of childhood · medulloblastoma, childhood · paediatric medulloblastoma · pediatric medulloblastoma

Data availability: 65 cell lines · 50 intOGen driver records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › cerebellar disorder › cerebellar neoplasm › childhood cerebellar neoplasm › childhood medulloblastoma

Related subtypes (1): childhood cerebellar astrocytic neoplasm

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

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 48 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SMO	Orphanet:1553	Curry-Jones syndrome
SMO	Orphanet:2495	Meningioma
SMO	Orphanet:388	Hirschsprung disease
TP53	Orphanet:1333	Familial pancreatic carcinoma
TP53	Orphanet:145	Hereditary breast and/or ovarian cancer syndrome
TP53	Orphanet:1501	Adrenocortical carcinoma
TP53	Orphanet:210159	Adult hepatocellular carcinoma
TP53	Orphanet:251576	Gliosarcoma
TP53	Orphanet:251579	Giant cell glioblastoma
TP53	Orphanet:251899	Choroid plexus carcinoma
TP53	Orphanet:2807	Papilloma of choroid plexus
TP53	Orphanet:293199	Pleomorphic rhabdomyosarcoma
TP53	Orphanet:3318	Essential thrombocythemia
TP53	Orphanet:524	Li-Fraumeni syndrome
TP53	Orphanet:52688	Myelodysplastic syndrome
TP53	Orphanet:585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
TP53	Orphanet:667662	Breast implant-associated anaplastic large cell lymphoma
TP53	Orphanet:668	Osteosarcoma
TP53	Orphanet:67038	B-cell chronic lymphocytic leukemia
TP53	Orphanet:70573	Small cell lung cancer
TP53	Orphanet:96253	Cushing disease
TP53	Orphanet:99756	Alveolar rhabdomyosarcoma
TP53	Orphanet:99757	Embryonal rhabdomyosarcoma
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type
MYCN	Orphanet:357027	Hereditary retinoblastoma
MYCN	Orphanet:357034	Non-hereditary retinoblastoma
MYCN	Orphanet:391641	Feingold syndrome type 1
MYCN	Orphanet:635	Neuroblastoma
PTCH1	Orphanet:220386	Semilobar holoprosencephaly
PTCH1	Orphanet:2353	Schilbach-Rott syndrome
PTCH1	Orphanet:280195	Septopreoptic holoprosencephaly
PTCH1	Orphanet:280200	Microform holoprosencephaly
PTCH1	Orphanet:377	Gorlin syndrome
PTCH1	Orphanet:77301	Monosomy 9q22.3 syndrome
PTCH1	Orphanet:93924	Lobar holoprosencephaly
PTCH1	Orphanet:93925	Alobar holoprosencephaly
PTCH1	Orphanet:93926	Midline interhemispheric variant of holoprosencephaly

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SMO	HGNC:11119	ENSG00000128602	Q99835	Protein smoothened	civic_evidence
TP53	HGNC:11998	ENSG00000141510	P04637	Cellular tumor antigen p53	civic_evidence
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	civic_evidence
MYCN	HGNC:7559	ENSG00000134323	P04198	N-myc proto-oncogene protein	civic_evidence
PTCH1	HGNC:9585	ENSG00000185920	Q13635	Protein patched homolog 1	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SMO	Protein smoothened	G protein-coupled receptor which associates with the patched protein (PTCH) to transduce hedgehog protein signaling.
TP53	Cellular tumor antigen p53	Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence.
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.
MYCN	N-myc proto-oncogene protein	Positively regulates the transcription of MYCNOS in neuroblastoma cells.
PTCH1	Protein patched homolog 1	Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH).

Protein-family classification

Druggable: 1 · Difficult: 2 · Unknown: 2 · 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
GPCR	1	4.8×	0.288
Transcription factor	2	3.3×	0.288
Other/Unknown	2	0.7×	0.877

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SMO	GPCR	yes		Frizzled/Smoothened_7TM, Frizzled/SFRP, GPCR_2-like_7TM
TP53	Transcription factor	no		p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin
MYCN	Transcription factor	no		Tscrpt_reg_Myc, bHLH_dom, Tscrpt_reg_Myc_N
PTCH1	Other/Unknown	no		SSD, TM_rcpt_patched, HMGCR/SNAP/NPC1-like_SSD

Expression context

Cohort genes with no expression data: 0.

4 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
ventricular zone	4
left ovary	1
right ovary	1
ganglionic eminence	1
tendon of biceps brachii	1
adrenal tissue	1
periodontal ligament	1
cortical plate	1
embryo	1
dorsal root ganglion	1
tibia	1
trigeminal ganglion	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SMO	225	ubiquitous	marker	ventricular zone, left ovary, right ovary
TP53	223	ubiquitous	marker	ventricular zone, ganglionic eminence, tendon of biceps brachii
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament
MYCN	223	broad	yes	ventricular zone, cortical plate, embryo
PTCH1	275	ubiquitous	marker	tibia, dorsal root ganglion, trigeminal ganglion

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TP53	22,736
CTNNB1	15,668
MYCN	7,345
PTCH1	3,368
SMO	2,882

Intra-cohort edges

A	B	Sources
MYCN	TP53	string_interaction
PTCH1	SMO	intact, string_interaction

Structural data

PDB: 5 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TP53	P04637	313
CTNNB1	P35222	50
PTCH1	Q13635	16
SMO	Q99835	15
MYCN	P04198	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 111. 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
Activation of SMO	2	253.8×	0.003	SMO, PTCH1
Transcriptional Regulation by VENTX	2	106.2×	0.008	TP53, CTNNB1
Loss of function of TP53 in cancer due to loss of tetramerization ability	1	2284.0×	0.008	TP53
Class B/2 (Secretin family receptors)	2	76.1×	0.008	SMO, PTCH1
Hedgehog ‘off’ state	2	71.4×	0.008	SMO, PTCH1
Hedgehog ‘on’ state	2	63.4×	0.008	SMO, PTCH1
Regulation of TP53 Expression	1	1142.0×	0.012	TP53
Regulation of PD-L1(CD274) transcription	2	43.5×	0.012	CTNNB1, MYCN
Transcriptional activation of cell cycle inhibitor p21	1	571.0×	0.019	TP53
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	1	456.8×	0.019	CTNNB1
Activation of NOXA and translocation to mitochondria	1	380.7×	0.019	TP53
GLI proteins bind promoters of Hh responsive genes to promote transcription	1	326.3×	0.019	PTCH1
RUNX3 regulates CDKN1A transcription	1	326.3×	0.019	TP53
CDH11 homotypic and heterotypic interactions	1	326.3×	0.019	CTNNB1
Ligand-receptor interactions	1	285.5×	0.019	PTCH1
Regulation of CDH19 Expression and Function	1	285.5×	0.019	CTNNB1
PI5P Regulates TP53 Acetylation	1	253.8×	0.019	TP53
InlA-mediated entry of Listeria monocytogenes into host cells	1	253.8×	0.019	CTNNB1
Activation of PUMA and translocation to mitochondria	1	228.4×	0.019	TP53
Binding of TCF/LEF:CTNNB1 to target gene promoters	1	228.4×	0.019	CTNNB1
RUNX3 regulates WNT signaling	1	228.4×	0.019	CTNNB1
Apoptotic cleavage of cell adhesion proteins	1	207.6×	0.019	CTNNB1
Regulation of CDH11 function	1	207.6×	0.019	CTNNB1
Regulation of CDH1 mRNA translation by microRNAs	1	207.6×	0.019	MYCN
TP53 Regulates Transcription of Caspase Activators and Caspases	1	190.3×	0.019	TP53
TP53 Regulates Transcription of Death Receptors and Ligands	1	190.3×	0.019	TP53
Regulation of CDH1 Function	1	190.3×	0.019	CTNNB1
Urea cycle	1	175.7×	0.019	TP53
Regulation of TP53 Activity through Association with Co-factors	1	163.1×	0.019	TP53
Formation of axial mesoderm	1	163.1×	0.019	CTNNB1

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of mesenchymal cell proliferation	3	361.1×	2e-05	SMO, CTNNB1, MYCN
neuroblast proliferation	3	219.8×	2e-05	SMO, TP53, CTNNB1
in utero embryonic development	4	57.6×	2e-05	SMO, TP53, CTNNB1, PTCH1
stem cell proliferation	3	187.2×	3e-05	TP53, CTNNB1, PTCH1
positive regulation of gene expression	4	31.0×	2e-04	SMO, TP53, CTNNB1, MYCN
mammary gland epithelial cell differentiation	2	481.5×	3e-04	SMO, PTCH1
somite development	2	449.4×	3e-04	SMO, PTCH1
smooth muscle tissue development	2	421.3×	3e-04	SMO, PTCH1
positive regulation of DNA-templated transcription	4	22.4×	3e-04	TP53, CTNNB1, MYCN, PTCH1
commissural neuron axon guidance	2	396.5×	4e-04	SMO, PTCH1
negative regulation of reactive oxygen species metabolic process	2	374.5×	4e-04	TP53, MYCN
cellular response to cholesterol	2	337.0×	4e-04	SMO, PTCH1
negative regulation of stem cell proliferation	2	337.0×	4e-04	TP53, PTCH1
dorsal/ventral neural tube patterning	2	321.0×	4e-04	SMO, PTCH1
positive regulation of neuroblast proliferation	2	232.4×	7e-04	SMO, CTNNB1
negative regulation of gene expression	3	41.4×	7e-04	SMO, CTNNB1, MYCN
cell fate specification	2	210.7×	8e-04	SMO, CTNNB1
hair follicle morphogenesis	2	198.3×	8e-04	SMO, CTNNB1
embryonic organ development	2	192.6×	8e-04	TP53, PTCH1
negative regulation of transcription by RNA polymerase II	4	14.2×	9e-04	SMO, TP53, CTNNB1, PTCH1
T cell differentiation in thymus	2	164.4×	0.001	TP53, CTNNB1
branching involved in ureteric bud morphogenesis	2	146.5×	0.001	CTNNB1, PTCH1
epithelial cell proliferation	2	124.8×	0.002	SMO, MYCN
odontogenesis of dentin-containing tooth	2	120.4×	0.002	SMO, CTNNB1
embryonic digit morphogenesis	2	120.4×	0.002	CTNNB1, MYCN
positive regulation of transcription by RNA polymerase II	4	11.9×	0.002	SMO, TP53, CTNNB1, MYCN
positive regulation of miRNA transcription	2	116.2×	0.002	TP53, MYCN
positive regulation of neuron apoptotic process	2	108.7×	0.002	TP53, CTNNB1
positive regulation of epithelial cell proliferation	2	97.7×	0.002	SMO, MYCN
ventral midline determination	1	3370.4×	0.003	SMO

Therapeutics

Drug target analysis

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

Druggability breadth: 5 of 5 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
SMO	INFIGRATINIB
TP53	NITROFURANTOIN
CTNNB1	DITHIAZANINE IODIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TP53	196	4
SMO	11	4
CTNNB1	4	4
MYCN	0	0
PTCH1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
INFIGRATINIB	4	SMO
SONIDEGIB	4	SMO
SONIDEGIB PHOSPHATE	4	SMO
VISMODEGIB	4	SMO
NITROFURANTOIN	4	TP53
DIOSMIN	4	TP53
VERTEPORFIN	4	TP53
CANDESARTAN CILEXETIL	4	TP53
DIENESTROL	4	TP53
CLOTRIMAZOLE	4	TP53
COLCHICINE	4	TP53
NABUMETONE	4	TP53
SALMETEROL XINAFOATE	4	TP53
AMIODARONE HYDROCHLORIDE	4	TP53
FURAZOLIDONE	4	TP53
AMOXAPINE	4	TP53
RALOXIFENE HYDROCHLORIDE	4	TP53
NICARDIPINE HYDROCHLORIDE	4	TP53
SULCONAZOLE NITRATE	4	TP53
PYRITHIONE ZINC	4	TP53
LACTIC ACID	4	TP53
OXYMETHOLONE	4	TP53
CHLOROXINE	4	TP53
PROPIOLACTONE	4	TP53
CLOMIPRAMINE HYDROCHLORIDE	4	TP53
PHENYL AMINOSALICYLATE	4	TP53
THIORIDAZINE HYDROCHLORIDE	4	TP53
AMITRIPTYLINE HYDROCHLORIDE	4	TP53
ETHOPROPAZINE HYDROCHLORIDE	4	TP53
MECHLORETHAMINE HYDROCHLORIDE	4	TP53

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
TP53	869	Binding:775, ADMET:83, Functional:10, Toxicity:1
CTNNB1	361	Binding:358, Functional:3
SMO	131	Binding:111, Functional:20
MYCN	11	Binding:11
PTCH1	4	Binding:4

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SMO	131
TP53	869
CTNNB1	361

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)
INFIGRATINIB	4	SMO
SONIDEGIB PHOSPHATE	4	SMO
NITROFURANTOIN	4	TP53
DIOSMIN	4	TP53
VERTEPORFIN	4	TP53
CANDESARTAN CILEXETIL	4	TP53
DIENESTROL	4	TP53
CLOTRIMAZOLE	4	TP53
COLCHICINE	4	TP53
NABUMETONE	4	TP53
SALMETEROL XINAFOATE	4	TP53
AMIODARONE HYDROCHLORIDE	4	TP53
FURAZOLIDONE	4	TP53
AMOXAPINE	4	TP53
RALOXIFENE HYDROCHLORIDE	4	TP53
NICARDIPINE HYDROCHLORIDE	4	TP53
SULCONAZOLE NITRATE	4	TP53
PYRITHIONE ZINC	4	TP53
LACTIC ACID	4	TP53
OXYMETHOLONE	4	TP53
CHLOROXINE	4	TP53
PROPIOLACTONE	4	TP53
CLOMIPRAMINE HYDROCHLORIDE	4	TP53
PHENYL AMINOSALICYLATE	4	TP53
THIORIDAZINE HYDROCHLORIDE	4	TP53
AMITRIPTYLINE HYDROCHLORIDE	4	TP53
ETHOPROPAZINE HYDROCHLORIDE	4	TP53
MECHLORETHAMINE HYDROCHLORIDE	4	TP53

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	SMO, TP53, CTNNB1
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	2	MYCN, PTCH1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
PTCH1	4	SMO
MYCN	11	—

Clinical trials & evidence

Clinical trials

Clinical trials: 188.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1	66
PHASE2	55
Not specified	33
PHASE1/PHASE2	17
PHASE3	8
EARLY_PHASE1	7
PHASE4	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02875314	PHASE4	ACTIVE_NOT_RECRUITING	HeadStart4: Newly Diagnosed Children (<10 y/o) With Medulloblastoma and Other CNS Embryonal Tumors
NCT04081701	PHASE4	RECRUITING	68-Ga DOTATATE PET/MRI in the Diagnosis and Management of Somatostatin Receptor Positive CNS Tumors.
NCT00392327	PHASE3	ACTIVE_NOT_RECRUITING	Chemotherapy and Radiation Therapy in Treating Young Patients With Newly Diagnosed, Previously Untreated, High-Risk Medulloblastoma/PNET
NCT05230758	PHASE3	RECRUITING	Effect of Metformin on Behaviour and the Brain in Children Treated for a Brain Tumour
NCT05382338	PHASE3	RECRUITING	A Study of Treatment for Medulloblastoma Using Sodium Thiosulfate to Reduce Hearing Loss
NCT07291102	PHASE3	NOT_YET_RECRUITING	Comparison of Neurocognitive Outcome in Two Standard Regimen for Treatment of Low-risk Medulloblastoma
NCT00085735	PHASE3	COMPLETED	Comparison of Radiation Therapy Regimens in Combination With Chemotherapy in Treating Young Patients With Newly Diagnosed Standard-Risk Medulloblastoma
NCT00336024	PHASE3	COMPLETED	Combination Chemotherapy Followed By Peripheral Stem Cell Transplant in Treating Young Patients With Newly Diagnosed Supratentorial Primitive Neuroectodermal Tumors or High-Risk Medulloblastoma
NCT01351870	PHASE3	COMPLETED	Hyperfractionated Versus Conventionally Fractionated Radiotherapy in Standard Risk Medulloblastoma (PNET4)
NCT01987596	PHASE3	TERMINATED	Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer
NCT00840047	PHASE2	ACTIVE_NOT_RECRUITING	Methionine PET/CT Studies In Patients With Cancer
NCT01356290	PHASE2	RECRUITING	Antiangiogenic Therapy for Children With Recurrent Medulloblastoma, Ependymoma, ATRT and Rare CNS Tumors
NCT01878617	PHASE2	ACTIVE_NOT_RECRUITING	A Clinical and Molecular Risk-Directed Therapy for Newly Diagnosed Medulloblastoma
NCT02724579	PHASE2	ACTIVE_NOT_RECRUITING	Reduced Craniospinal Radiation Therapy and Chemotherapy in Treating Younger Patients With Newly Diagnosed WNT-Driven Medulloblastoma
NCT03155620	PHASE2	ACTIVE_NOT_RECRUITING	Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
NCT03210714	PHASE2	ACTIVE_NOT_RECRUITING	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)
NCT03213652	PHASE2	ACTIVE_NOT_RECRUITING	Ensartinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With ALK or ROS1 Genomic Alterations (A Pediatric MATCH Treatment Trial)
NCT03213704	PHASE2	ACTIVE_NOT_RECRUITING	Larotrectinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With NTRK Fusions (A Pediatric MATCH Treatment Trial)
NCT03698994	PHASE2	ACTIVE_NOT_RECRUITING	Ulixertinib in Treating Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With MAPK Pathway Mutations (A Pediatric MATCH Treatment Trial)
NCT03709680	PHASE2	ACTIVE_NOT_RECRUITING	Study Of Palbociclib Combined With Chemotherapy In Pediatric Patients With Recurrent/Refractory Solid Tumors
NCT04049669	PHASE2	ACTIVE_NOT_RECRUITING	Pediatric Trial of Indoximod With Chemotherapy and Radiation for Relapsed Brain Tumors or Newly Diagnosed DIPG
NCT04195555	PHASE2	ACTIVE_NOT_RECRUITING	Ivosidenib in Treating Patients With Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With IDH1 Mutations (A Pediatric MATCH Treatment Trial)
NCT04284774	PHASE2	ACTIVE_NOT_RECRUITING	Tipifarnib for the Treatment of Advanced Solid Tumors, Lymphoma, or Histiocytic Disorders With HRAS Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04320888	PHASE2	ACTIVE_NOT_RECRUITING	Selpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
NCT04501718	PHASE2	RECRUITING	Apatinib Combined with Temozolomide and Etoposide Capsules in the Treatment of Recurrent Medulloblastoma in Children
NCT04696029	PHASE2	RECRUITING	DFMO as Maintenance Therapy for Molecular High/Very High Risk and Relapsed Medulloblastoma
NCT04743661	PHASE2	ACTIVE_NOT_RECRUITING	131I-Omburtamab, in Recurrent Medulloblastoma and Ependymoma
NCT05096481	PHASE2	RECRUITING	PEP-CMV Vaccine Targeting CMV Antigen to Treat Newly Diagnosed Pediatric HGG and DIPG and Recurrent Medulloblastoma
NCT05128903	PHASE2	ACTIVE_NOT_RECRUITING	Quantitative Assessment of Radiation-induced Neuroinflammation - A Proof of Principle Study
NCT05278208	PHASE1/PHASE2	RECRUITING	Lutathera for Treatment of Recurrent or Progressive High-Grade CNS Tumors
NCT05535166	PHASE2	RECRUITING	Molecular and Clinical Risk-Directed Therapy for Infants and Young Children With Newly Diagnosed Medulloblastoma
NCT06161519	PHASE1/PHASE2	RECRUITING	PLX038 in Primary Central Nervous System Tumors Containing MYC or MYCN Amplifications
NCT06485908	PHASE1/PHASE2	NOT_YET_RECRUITING	Axitinib and Oral Metronomic Etoposide for Pediatric Children and AYA Refractory/Relapsing Medulloblastoma and Ependymoma
NCT06607692	PHASE1/PHASE2	RECRUITING	Study in Children and Adolescents of 177Lu-DOTATATE (Lutathera®) Combined With the PARP Inhibitor Olaparib for the Treatment of Recurrent or Relapsed Solid Tumours Expressing Somatostatin Receptor (SSTR) (LuPARPed).
NCT06639607	PHASE1/PHASE2	NOT_YET_RECRUITING	PEP-CMV + Nivolumab for Newly Diagnosed Diffuse Midline Glioma/High-grade Glioma and Recurrent Diffuse Midline Glioma/High-grade Glioma, Medulloblastoma, and Ependymoma
NCT06701812	PHASE2	RECRUITING	Digoxin Medulloblastoma Study
NCT06804655	PHASE2	NOT_YET_RECRUITING	Pharmacoscopy for Patients With Refractory Primary Brain Tumors
NCT07346157	PHASE1/PHASE2	NOT_YET_RECRUITING	Liothyronine in Combination With BIT Regimen for Medulloblastoma With or Without Minimal Residual Disease
NCT00004078	PHASE2	COMPLETED	Irinotecan in Treating Children With Refractory Solid Tumors
NCT00005811	PHASE2	COMPLETED	Topotecan Hydrochloride in Treating Children With Meningeal Cancer That Has Not Responded to Previous Treatment

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CISPLATIN	4	13
LOMUSTINE	4	7
SONIDEGIB	4	6
ETOPOSIDE PHOSPHATE	4	3
ISOTRETINOIN	4	3
LAPATINIB	4	3
VISMODEGIB	4	3
SODIUM THIOSULFATE	4	2
THIOTEPA	4	2
TIPIRACIL HYDROCHLORIDE	4	2
FENOFIBRIC ACID	4	1
FLUDEOXYGLUCOSE F 18	4	1
IRINOTECAN	4	1
LEUCOVORIN	4	1
MANNITOL	4	1
NIFURTIMOX	4	1
SORBITOL	4	1
TOPOTECAN	4	1
VINCRISTINE	4	1
TIPIFARNIB	3	3
METHIONINE	3	1
CHEMBL3753202	0	2
CHEMBL1486475	0	1
CHEMBL1234268	0	1
RACEMETHIONINE	-1	1

Precision-medicine subtype map (CIViC)

Drug × molecular subtype: 9 predictive associations from 10 curated evidence items; also 9 prognostic, 2 diagnostic.

Molecular subtype	Therapy	Effect	Level	CIViC
PTCH1 LOH	Vismodegib	Sensitivity/Response	CIViC B	EID749
PTCH1 Mutation	Sonidegib	Sensitivity/Response	CIViC B	EID748
SMO D473H	Vismodegib	Resistance	CIViC C	EID745 +1
BRD4 Overexpression	JQ1	Sensitivity/Response	CIViC D	EID9316
MYCN Amplification	Arsenic Trioxide	Sensitivity/Response	CIViC D	EID5327
PTCH1 Deletion	Sonidegib	Sensitivity/Response	CIViC D	EID5326
SMO D473H	Patidegib	Sensitivity/Response	CIViC D	EID1099
MYCN Amplification	Sonidegib	Resistance	CIViC D	EID5325
SUFU Deletion	Sonidegib	Resistance	CIViC D	EID5324