Niemann-Pick disease type C

Summary

Niemann-Pick disease type C (MONDO:0018982) is a disease (an umbrella term covering 7 Mondo subtypes) with 2 cohort genes and 10 clinical trials. Top therapeutic interventions include cisplatin, miglustat, and becotatug vedotin.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Umbrella term: 7 Mondo subtypes
• Cohort genes: 2
• ClinVar variants: 117
• Phenotypes (HPO): 81
• Clinical trials: 10

Clinical features

Epidemiology

Prevalence records

9 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.77	France	Validated
Prevalence at birth	1-9 / 1 000 000	0.35	Netherlands	Validated
Prevalence at birth	1-9 / 100 000	2.2	Portugal	Validated
Prevalence at birth	1-9 / 1 000 000	0.47	Australia	Validated
Prevalence at birth	1-9 / 1 000 000	0.91	Czech Republic	Validated
Prevalence at birth	1-9 / 1 000 000	0.48	Sweden	Validated
Prevalence at birth	1-9 / 1 000 000	0.75	United Kingdom	Not yet validated
Prevalence at birth	1-9 / 1 000 000	0.75	Germany	Not yet validated

Signs & symptoms

Clinical features (HPO)

81 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000511	Vertical supranuclear gaze palsy	Very frequent (80-99%)
HP:0000708	Atypical behavior	Very frequent (80-99%)
HP:0000952	Jaundice	Very frequent (80-99%)
HP:0001268	Mental deterioration	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0001392	Abnormality of the liver	Very frequent (80-99%)
HP:0002015	Dysphagia	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0002344	Progressive neurologic deterioration	Very frequent (80-99%)
HP:0003349	Low cholesterol esterification rate	Very frequent (80-99%)
HP:0000365	Hearing impairment	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001332	Dystonia	Frequent (30-79%)
HP:0001618	Dysphonia	Frequent (30-79%)
HP:0001744	Splenomegaly	Frequent (30-79%)
HP:0002167	Abnormality of speech or vocalization	Frequent (30-79%)
HP:0002451	Limb dystonia	Frequent (30-79%)
HP:0002530	Axial dystonia	Frequent (30-79%)
HP:0003651	Foam cells	Frequent (30-79%)
HP:0004333	Bone-marrow foam cells	Frequent (30-79%)
HP:0007240	Progressive gait ataxia	Frequent (30-79%)
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	Frequent (30-79%)
HP:0011446	Abnormality of higher mental function	Frequent (30-79%)
HP:0011968	Feeding difficulties	Frequent (30-79%)
HP:0100022	Abnormality of movement	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0000709	Psychosis	Occasional (5-29%)
HP:0000716	Depression	Occasional (5-29%)
HP:0000718	Aggressive behavior	Occasional (5-29%)
HP:0000722	Compulsive behaviors	Occasional (5-29%)
HP:0000726	Dementia	Occasional (5-29%)
HP:0000734	Disinhibition	Occasional (5-29%)
HP:0000741	Apathy	Occasional (5-29%)
HP:0000744	Low frustration tolerance	Occasional (5-29%)
HP:0000750	Delayed speech and language development	Occasional (5-29%)
HP:0001249	Intellectual disability	Occasional (5-29%)
HP:0001252	Hypotonia	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001328	Specific learning disability	Occasional (5-29%)
HP:0001336	Myoclonus	Occasional (5-29%)
HP:0001337	Tremor	Occasional (5-29%)
HP:0001433	Hepatosplenomegaly	Occasional (5-29%)
HP:0002059	Cerebral atrophy	Occasional (5-29%)
HP:0002061	Lower limb spasticity	Occasional (5-29%)
HP:0002072	Chorea	Occasional (5-29%)
HP:0002079	Hypoplasia of the corpus callosum	Occasional (5-29%)
HP:0002080	Intention tremor	Occasional (5-29%)
HP:0002197	Generalized-onset seizure	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Niemann-Pick disease type C
Mondo ID	MONDO:0018982
MeSH	D052556
Orphanet	646
ICD-10-CM	E75.242
ICD-11	812702125
SNOMED CT	66751000
UMLS	C0220756
MedGen	67399
GARD	0007207
NORD	1509
Is cancer (heuristic)	no

Also known as: Niemann Pick Disease Type C · NPC

Data availability: 117 ClinVar variants · 75 cell lines.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder › histiocytosis › non-Langerhans cell histiocytosis › Niemann-Pick disease › Niemann-Pick disease type C

Related subtypes (3): Niemann-Pick disease type E, acid sphingomyelinase deficiency, chronic neurovisceral acid sphingomyelinase deficiency

Subtypes (7): Niemann-Pick disease, type C1, Niemann-Pick disease, type C2, Niemann-Pick disease type C, severe perinatal form, Niemann-Pick disease type C, severe early infantile neurologic onset, Niemann-Pick disease type C, late infantile neurologic onset, Niemann-Pick disease type C, juvenile neurologic onset, Niemann-Pick disease type C, adult neurologic onset

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

117 retrieved; paginated sample, class counts are floors:

56 pathogenic/likely pathogenic, 33 pathogenic, 16 likely pathogenic, 12 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1019102	NM_000271.5(NPC1):c.1901A>T (p.Tyr634Phe)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1026548	NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066746	NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
132890	NM_000271.5(NPC1):c.1553G>A (p.Arg518Gln)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
1331427	NM_000271.5(NPC1):c.3349dup (p.Leu1117fs)	NPC1	Pathogenic	criteria provided, single submitter
1339660	NM_000271.5(NPC1):c.464-2A>C	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1358191	NM_000271.5(NPC1):c.3422T>G (p.Val1141Gly)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1405310	NM_000271.5(NPC1):c.1042C>T (p.Arg348Ter)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1454777	NM_000271.5(NPC1):c.2129del (p.Gln710fs)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
1519574	NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1524141	NM_000271.5(NPC1):c.2071C>G (p.Pro691Ala)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1696116	NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1809713	NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
181455	NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
181457	NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
188716	NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188747	NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188769	NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
188794	NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
188849	NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
189174	NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1918189	NM_000271.5(NPC1):c.3100G>C (p.Gly1034Arg)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1932106	NM_000271.5(NPC1):c.2526T>A (p.Phe842Leu)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
194810	NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
21134	NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
21138	NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2138133	NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2581553	NM_000271.5(NPC1):c.2279_2281del (p.Phe760del)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
265495	NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
2736708	NM_000271.5(NPC1):c.2171T>C (p.Leu724Pro)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 10 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NPC2	Orphanet:216972	Niemann-Pick disease type C, severe perinatal form
NPC2	Orphanet:216975	Niemann-Pick disease type C, severe early infantile neurologic onset
NPC2	Orphanet:216978	Niemann-Pick disease type C, late infantile neurologic onset
NPC2	Orphanet:216981	Niemann-Pick disease type C, juvenile neurologic onset
NPC2	Orphanet:216986	Niemann-Pick disease type C, adult neurologic onset
NPC1	Orphanet:216972	Niemann-Pick disease type C, severe perinatal form
NPC1	Orphanet:216975	Niemann-Pick disease type C, severe early infantile neurologic onset
NPC1	Orphanet:216978	Niemann-Pick disease type C, late infantile neurologic onset
NPC1	Orphanet:216981	Niemann-Pick disease type C, juvenile neurologic onset
NPC1	Orphanet:216986	Niemann-Pick disease type C, adult neurologic onset

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NPC2	HGNC:14537	ENSG00000119655	P61916	NPC intracellular cholesterol transporter 2	clinvar
NPC1	HGNC:7897	ENSG00000141458	O15118	NPC intracellular cholesterol transporter 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NPC2	NPC intracellular cholesterol transporter 2	Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment.
NPC1	NPC intracellular cholesterol transporter 1	Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.0

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
Other/Unknown	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NPC2	Other/Unknown	no		ML_dom, Ig_E-set, ML_Npc2-like
NPC1	Other/Unknown	no		SSD, NPC1-like, NPC1_N

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
cauda epididymis	1
corpus epididymis	1
epididymis	1
adrenal tissue	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NPC2	296	ubiquitous	marker	corpus epididymis, cauda epididymis, epididymis
NPC1	292	ubiquitous	marker	secondary oocyte, oocyte, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
NPC1	2,648
NPC2	1,706

Intra-cohort edges

A	B	Sources
NPC1	NPC2	intact, string_interaction

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NPC1	O15118	20
NPC2	P61916	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. 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
LDL clearance	2	543.8×	6e-06	NPC2, NPC1
Neutrophil degranulation	1	11.5×	0.085	NPC2

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
cholesterol storage	2	2407.4×	5e-06	NPC2, NPC1
intracellular cholesterol transport	2	1296.3×	1e-05	NPC2, NPC1
cholesterol transport	2	732.7×	2e-05	NPC2, NPC1
cholesterol efflux	2	526.6×	3e-05	NPC2, NPC1
cholesterol metabolic process	2	195.9×	2e-04	NPC2, NPC1
cholesterol homeostasis	2	156.0×	2e-04	NPC2, NPC1
regulation of isoprenoid metabolic process	1	8426.0×	5e-04	NPC2
cyclodextrin metabolic process	1	8426.0×	5e-04	NPC1
gene expression	2	79.9×	6e-04	NPC2, NPC1
intracellular lipid transport	1	2808.7×	0.001	NPC1
glycolipid transport	1	2808.7×	0.001	NPC2
membrane raft organization	1	1685.2×	0.002	NPC1
intracellular sterol transport	1	1685.2×	0.002	NPC2
sterol transport	1	1404.3×	0.002	NPC1
establishment of protein localization to membrane	1	936.2×	0.003	NPC1
intestinal cholesterol absorption	1	702.2×	0.003	NPC1
programmed cell death	1	648.1×	0.003	NPC1
negative regulation of epithelial cell apoptotic process	1	601.9×	0.003	NPC1
negative regulation of macroautophagy	1	561.7×	0.003	NPC1
cellular response to steroid hormone stimulus	1	526.6×	0.003	NPC1
bile acid metabolic process	1	495.6×	0.003	NPC1
cellular response to low-density lipoprotein particle stimulus	1	443.5×	0.004	NPC1
response to cadmium ion	1	366.4×	0.004	NPC1
lysosomal transport	1	351.1×	0.004	NPC1
phospholipid transport	1	351.1×	0.004	NPC2
adult walking behavior	1	247.8×	0.006	NPC1
symbiont entry into host cell	1	200.6×	0.007	NPC1
glycoprotein biosynthetic process	1	168.5×	0.008	NPC1
negative regulation of TORC1 signaling	1	162.0×	0.008	NPC1
macroautophagy	1	120.4×	0.010	NPC1

Therapeutics

Drugs indicated for this disease

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

Drug	Development status
2-HYDROXYPROPYL-BETA-CYCLODEXTRIN	Phase 3 (in late-stage trials)
Adrabetadex	Phase 3 (in late-stage trials)
Miglustat	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Arimoclomol, Trenonacog Alfa.

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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
NPC1	NABUMETONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NPC1	90	4
NPC2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
NABUMETONE	4	NPC1
PHENELZINE	4	NPC1
AMLEXANOX	4	NPC1
IDARUBICIN	4	NPC1
RABEPRAZOLE SODIUM	4	NPC1
NITAZOXANIDE	4	NPC1
NICLOSAMIDE	4	NPC1
NITROXOLINE	4	NPC1
NICARDIPINE	4	NPC1
DAUNORUBICIN HYDROCHLORIDE	4	NPC1
INDOPROFEN	4	NPC1
CYCLOSPORINE	4	NPC1
TERFENADINE	4	NPC1
DIGOXIN	4	NPC1
PRAZOSIN	4	NPC1
MAPROTILINE	4	NPC1
DIGITOXIN	4	NPC1
HYDRALAZINE	4	NPC1
EBASTINE	4	NPC1
DEQUALINIUM	4	NPC1
DOXORUBICIN HYDROCHLORIDE	4	NPC1
VINBLASTINE SULFATE	4	NPC1
FLUOXETINE	4	NPC1
DITHIAZANINE IODIDE	4	NPC1
TRIFLUOPERAZINE	4	NPC1
PACLITAXEL	4	NPC1
NORTRIPTYLINE	4	NPC1
MIBEFRADIL	4	NPC1
FLUSPIRILENE	4	NPC1
KETOROLAC	4	NPC1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
NPC1	18	Binding:13, Functional:5

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

30 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)
NABUMETONE	4	NPC1
PHENELZINE	4	NPC1
AMLEXANOX	4	NPC1
IDARUBICIN	4	NPC1
RABEPRAZOLE SODIUM	4	NPC1
NITAZOXANIDE	4	NPC1
NICLOSAMIDE	4	NPC1
NITROXOLINE	4	NPC1
NICARDIPINE	4	NPC1
DAUNORUBICIN HYDROCHLORIDE	4	NPC1
INDOPROFEN	4	NPC1
CYCLOSPORINE	4	NPC1
TERFENADINE	4	NPC1
DIGOXIN	4	NPC1
PRAZOSIN	4	NPC1
MAPROTILINE	4	NPC1
DIGITOXIN	4	NPC1
HYDRALAZINE	4	NPC1
EBASTINE	4	NPC1
DEQUALINIUM	4	NPC1
DOXORUBICIN HYDROCHLORIDE	4	NPC1
VINBLASTINE SULFATE	4	NPC1
FLUOXETINE	4	NPC1
DITHIAZANINE IODIDE	4	NPC1
TRIFLUOPERAZINE	4	NPC1
PACLITAXEL	4	NPC1
NORTRIPTYLINE	4	NPC1
MIBEFRADIL	4	NPC1
FLUSPIRILENE	4	NPC1
KETOROLAC	4	NPC1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	NPC1
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	NPC2

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)
NPC2	0	NPC1

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	3
Not specified	3
PHASE3	2
PHASE2/PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03919552	PHASE3	RECRUITING	Cisplatin-based and Carboplatin-based Chemoradiation in Locoregionally Advanced Nasopharyngeal Carcinoma
NCT06719479	PHASE2/PHASE3	NOT_YET_RECRUITING	A Clinical Trial to Evaluate Effect of IAE0972 Combined with Chemotherapy for R/M HNSCC or NPC(Note: It is Currently Phase II.).
NCT01760564	PHASE3	COMPLETED	Application of Miglustat in Patients With Niemann-Pick Type C
NCT03734809	PHASE2	ACTIVE_NOT_RECRUITING	NEO-SPACE Trial: Pembrolizumab and Chemoradiation in Nasopharyngeal Cancer
NCT07267338	PHASE2	NOT_YET_RECRUITING	Pembrolizumab + MRGOO3 as Neoadjuvant in NPC
NCT03158324	PHASE2	UNKNOWN	Phase IIa Dose-Expansion and Biomarker Study of OPB-111077
NCT04945421	PHASE1	COMPLETED	IBI310 in Combination With Siltilimab in Subjects With Anti-PD-1/PD-L1 Resistance R/M NPC
NCT01744587	Not specified	COMPLETED	Epstein-Barr Virus Reactivation and the Effect of EGCG on Virus Reactivation in Remission Patients
NCT03352778	Not specified	COMPLETED	IMRT vs 2DRT for NPC Patients
NCT03973723	Not specified	COMPLETED	Plasma EBV DNA Monitoring in Post-treatment NPC Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CISPLATIN	4	1
MIGLUSTAT	4	1
BECOTATUG VEDOTIN	3	1