PPAN

gene
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Also known as SSF1SSF2SSFBXDC3

Summary

PPAN (peter pan homolog, HGNC:9227) is a protein-coding gene on chromosome 19p13.2, encoding Suppressor of SWI4 1 homolog (Q9NQ55). May have a role in cell growth. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).

The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation.

Source: NCBI Gene 56342 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 26 total — 1 pathogenic
  • Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
  • MANE Select transcript: NM_020230

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9227
Approved symbolPPAN
Namepeter pan homolog
Location19p13.2
Locus typegene with protein product
StatusApproved
AliasesSSF1, SSF2, SSF, BXDC3
Ensembl geneENSG00000130810
Ensembl biotypeprotein_coding
OMIM607793
Entrez56342

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 13 protein_coding, 3 retained_intron

ENST00000253107, ENST00000393793, ENST00000430370, ENST00000444703, ENST00000446223, ENST00000466025, ENST00000468881, ENST00000486482, ENST00000891444, ENST00000891445, ENST00000891446, ENST00000931026, ENST00000931027, ENST00000969248, ENST00000969249, ENST00000969250

RefSeq mRNA: 3 — MANE Select: NM_020230 NM_001346139, NM_001346141, NM_020230

CCDS: CCDS12225, CCDS86698

Canonical transcript exons

ENST00000253107 — 12 exons

ExonStartEnd
ENSE000013740301010636210106412
ENSE000017044531011094510112012
ENSE000034721441011012310110246
ENSE000034835831011069710110866
ENSE000034951521011048510110614
ENSE000035357941010796410108134
ENSE000035684391010750510107606
ENSE000035693621010650110106671
ENSE000036083101010780410107854
ENSE000036276551011032410110402
ENSE000036813801010963110109707
ENSE000036939321010991310110020

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 94.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.8464 / max 50.0734, expressed in 1340 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter IDTPM avgSamples expressed
17373239.96661809
1737331.63921034
1737340.7678368
2086830.4395216

Top tissues by expression

271 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548894.99gold quality
granulocyteCL:000009491.69gold quality
mucosa of transverse colonUBERON:000499190.73gold quality
lower esophagus mucosaUBERON:003583490.16gold quality
tongue squamous epitheliumUBERON:000691989.86silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099189.80gold quality
gastrocnemiusUBERON:000138889.78gold quality
esophagus mucosaUBERON:000246989.58gold quality
parotid glandUBERON:000183189.26gold quality
skin of legUBERON:000151189.13gold quality
skin of abdomenUBERON:000141689.12gold quality
left uterine tubeUBERON:000130389.10gold quality
apex of heartUBERON:000209888.72gold quality
muscle of legUBERON:000138388.69gold quality
gingival epitheliumUBERON:000194988.54gold quality
spleenUBERON:000210688.43gold quality
esophagusUBERON:000104388.12gold quality
body of stomachUBERON:000116187.89gold quality
body of pancreasUBERON:000115087.78gold quality
vermiform appendixUBERON:000115487.58gold quality
ectocervixUBERON:001224987.57gold quality
muscle layer of sigmoid colonUBERON:003580587.57gold quality
pancreatic ductal cellCL:000207987.52silver quality
transverse colonUBERON:000115787.44gold quality
omental fat padUBERON:001041487.40gold quality
right ovaryUBERON:000211887.36gold quality
peritoneumUBERON:000235887.36gold quality
left ovaryUBERON:000211987.13gold quality
right lobe of liverUBERON:000111487.06gold quality
small intestine Peyer’s patchUBERON:000345487.04gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.15
E-MTAB-6911no284.16
E-MTAB-6524no155.39

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

1 targeting PPAN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-427798.3467.171323

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

  • The functional analysis of the Drosophila homolog. [LH] (PMID:10359593)
  • a novel nucleolar stress-response pathway involving PPAN, NPM, and BAX to guarantee cell survival in a p53-independent manner. (PMID:25759387)
  • data underline the notion that the PPAN-mediated, p53-independent nucleolar stress response has multiple facets. (PMID:30716409)
  • The study uncovers that PPAN knockdown is linked to mitochondrial damage and stimulates autophagy. (PMID:31416196)
  • An SNP reducing SNORD105 and PPAN expression decreases the risk of hepatocellular carcinoma in a Chinese population. (PMID:34741342)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_rerioppanENSDARG00000022232
mus_musculusPpanENSMUSG00000004100
rattus_norvegicusPpanENSRNOG00000020608
drosophila_melanogasterppanFBGN0010770
caenorhabditis_eleganslpd-6WBGENE00003062

Protein

Protein identifiers

Suppressor of SWI4 1 homologQ9NQ55 (reviewed: Q9NQ55)

Alternative names: Brix domain-containing protein 3, Peter Pan homolog

All UniProt accessions (5): Q9NQ55, A8MV53, C9J3W3, C9JHF7, H7C446

UniProt curated annotations — full annotation on UniProt →

Function. May have a role in cell growth.

Subcellular location. Nucleus. Nucleolus.

Tissue specificity. Widely expressed.

Miscellaneous. A chimeric transcript, characterized by the first third of PPAN exon 12 joined to P2RY11 exon 2, has been detected. It is possibly produced by trans-splicing. The chimeric transcript is widely expressed and can be induced by retinoic acid during the granulocytic differentiation of the HL-60 cell line. The resulting chimeric protein shows a much lower activity than the non-chimeric P2RY11 gene product, but qualitatively indistinguishable.

Isoforms (3)

UniProt IDNamesCanonical?
Q9NQ55-11yes
Q9NQ55-22
Q9NQ55-33

RefSeq proteins (3): NP_001333068, NP_001333070, NP_064615* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007109BrixDomain
IPR045112PPAN-likeFamily

Pfam: PF04427

UniProt features (18 total): compositionally biased region 6, modified residue 4, splice variant 2, sequence variant 2, chain 1, domain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

4 structures.

PDBMethodResolution (Å)
8FKQELECTRON MICROSCOPY2.76
8FKPELECTRON MICROSCOPY2.85
8FKSELECTRON MICROSCOPY2.88
8FKRELECTRON MICROSCOPY2.89

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9NQ55-F172.840.25

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 240, 359, 438, 238

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GOBP_RIBOSOME_BIOGENESIS, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MUELLER_PLURINET, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_MATURATION_OF_LSU_RRNA, HESS_TARGETS_OF_HOXA9_AND_MEIS1_UP, BROWN_MYELOID_CELL_DEVELOPMENT_DN, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MARCINIAK_ER_STRESS_RESPONSE_VIA_CHOP, BONOME_OVARIAN_CANCER_POOR_SURVIVAL_DN, SARTIPY_NORMAL_AT_INSULIN_RESISTANCE_UP, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_LARGE_SUBUNIT_BIOGENESIS, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, CUI_TCF21_TARGETS_2_UP

GO Biological Process (2): maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), rRNA processing (GO:0006364)

GO Molecular Function (2): RNA binding (GO:0003723), rRNA binding (GO:0019843)

GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
maturation of LSU-rRNA1
RNA processing1
rRNA metabolic process1
ribosome biogenesis1
nucleic acid binding1
RNA binding1
intracellular membrane-bounded organelle1
nuclear lumen1
intracellular membraneless organelle1
preribosome1

Protein interactions and networks

STRING

1882 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PPANP2RY11Q96G91894
PPANP2RY4P51582826
PPANEIF3GO75821781
PPANP2RY1P47900645
PPANPPCDCQ96CD2577
PPANRPF2Q9H7B2559
PPANNOL9Q5SY16552
PPANSRSF1Q07955551
PPANDDX51Q8N8A6484
PPANPES1O00541482
PPANPANK1Q8TE04480
PPANPPCSQ9HAB8478
PPANRRP15Q9Y3B9469
PPANURB1O60287464
PPANSCELO95171463

IntAct

192 interactions, top by confidence:

ABTypeScore
PIK3CBPIK3R2psi-mi:“MI:0914”(association)0.860
PTK2TGFB1I1psi-mi:“MI:0914”(association)0.680
NPM1NVLpsi-mi:“MI:0914”(association)0.610
NPM1MPHOSPH10psi-mi:“MI:0914”(association)0.610
RPL28MAGEB2psi-mi:“MI:0914”(association)0.560
NNOP56psi-mi:“MI:0914”(association)0.530
RPS3ZNF316psi-mi:“MI:0914”(association)0.530
RPL37AMPHOSPH10psi-mi:“MI:0914”(association)0.530
PPANPPM1Gpsi-mi:“MI:0914”(association)0.530
PRR11NVLpsi-mi:“MI:0914”(association)0.530
RPL18ARRP8psi-mi:“MI:0914”(association)0.530
RPL30RRP8psi-mi:“MI:0914”(association)0.530
MAGEB2GTPBP10psi-mi:“MI:0914”(association)0.530
PTGES3AIPpsi-mi:“MI:0914”(association)0.530
RPS2MPHOSPH10psi-mi:“MI:0914”(association)0.530
NHSL3NCK2psi-mi:“MI:0914”(association)0.530
RPL7ANVLpsi-mi:“MI:0914”(association)0.530
DAXXTNRC18psi-mi:“MI:0914”(association)0.530
JUNTPM3psi-mi:“MI:0914”(association)0.350
NPIPO5psi-mi:“MI:0914”(association)0.350
RRP1BZNF785psi-mi:“MI:0914”(association)0.350
MKI67ARHGAP10psi-mi:“MI:0914”(association)0.350
psi-mi:“MI:0914”(association)0.350
Prdm16ESYT2psi-mi:“MI:0914”(association)0.350
MecomESYT2psi-mi:“MI:0914”(association)0.350
SCARB2PLEKHG3psi-mi:“MI:0914”(association)0.350
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
CAND1GTPBP10psi-mi:“MI:0914”(association)0.350

BioGRID (431): PPAN (Affinity Capture-MS), PPAN (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN-P2RY11 (Affinity Capture-MS), PPAN (Reconstituted Complex), PPAN (Affinity Capture-MS), PPAN (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JV04, D4A1F2, F1MF74, F1QWK4, O54935, O75038, O94851, P18858, P18887, P37913, P41111, P49916, P51432, P51892, P58404, P78563, P97386, Q01970, Q12851, Q1HFZ0, Q3T058, Q3TX08, Q58DG1, Q5HZH2, Q5REM3, Q60596, Q61211, Q61749, Q63186, Q641W2, Q7ZU92, Q8BMI3, Q8BML1, Q8CG07, Q91YU8, Q92918, Q96T60, Q99JE6, Q9D2Q2, Q9ESZ0

Diamond homologs: O14206, P38789, Q12153, Q54N44, Q5REM3, Q91YU8, Q9ASU7, Q9NQ55, Q9VDE5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 222 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Peptide chain elongation3227.4×3e-36
Viral mRNA Translation3227.4×3e-36
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA3227.1×4e-36
Selenocysteine synthesis3226.0×1e-35
Eukaryotic Translation Termination3226.0×1e-35
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)3225.5×2e-35
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA3225.5×2e-35
Eukaryotic Translation Initiation1225.0×7e-13

GO biological processes:

GO termPartnersFoldFDR
negative regulation of DNA recombination634.0×2e-06
cytoplasmic translation3532.7×1e-41
chromosome condensation625.5×1e-05
ribosomal large subunit biogenesis817.9×2e-06
translation3317.1×8e-29
ribosomal small subunit biogenesis1314.9×8e-10
negative regulation of proteasomal ubiquitin-dependent protein catabolic process612.2×8e-04
rRNA processing1611.4×2e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

26 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance17
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
146077GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1Pathogenic

SpliceAI

1699 predictions. Top by Δscore:

VariantEffectΔscore
19:10106370:G:GTdonor_gain1.0000
19:10106408:G:GTdonor_gain1.0000
19:10106408:GGAGG:Gdonor_gain1.0000
19:10106409:G:Tdonor_gain1.0000
19:10106409:GAGG:Gdonor_gain1.0000
19:10106409:GAGGG:Gdonor_gain1.0000
19:10106410:A:Tdonor_gain1.0000
19:10106411:GG:Gdonor_gain1.0000
19:10106412:GG:Gdonor_gain1.0000
19:10106413:G:GCdonor_loss1.0000
19:10106414:T:Adonor_loss1.0000
19:10106496:CGCA:Cacceptor_loss1.0000
19:10106497:GCAGT:Gacceptor_loss1.0000
19:10106498:CA:Cacceptor_loss1.0000
19:10106499:A:AGacceptor_gain1.0000
19:10106500:G:GCacceptor_gain1.0000
19:10106500:GT:Gacceptor_gain1.0000
19:10106500:GTCCC:Gacceptor_gain1.0000
19:10106668:GCAG:Gdonor_gain1.0000
19:10106671:GGT:Gdonor_loss1.0000
19:10106672:G:Cdonor_loss1.0000
19:10106672:G:GGdonor_gain1.0000
19:10107493:T:Aacceptor_gain1.0000
19:10107493:T:TAacceptor_gain1.0000
19:10107497:A:AGacceptor_gain1.0000
19:10107498:T:Gacceptor_gain1.0000
19:10107503:A:AGacceptor_gain1.0000
19:10107503:AG:Aacceptor_gain1.0000
19:10107504:G:GAacceptor_gain1.0000
19:10107504:GG:Gacceptor_gain1.0000

AlphaMissense

3096 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:10110328:G:AG276D0.998
19:10109701:G:CR195P0.997
19:10110327:G:CG276R0.996
19:10110331:C:AP277Q0.996
19:10110334:G:CR278P0.995
19:10110343:T:CL281P0.995
19:10109652:C:AR179S0.994
19:10109653:G:CR179P0.994
19:10110331:C:GP277R0.994
19:10110236:G:CR271P0.993
19:10110328:G:TG276V0.993
19:10106580:T:AV33E0.992
19:10107545:C:AA77D0.992
19:10109655:T:CC180R0.992
19:10109662:T:CL182P0.991
19:10110229:G:CA269P0.991
19:10108040:T:CL140P0.990
19:10109914:A:CS198R0.990
19:10109916:C:AS198R0.990
19:10109916:C:GS198R0.990
19:10110233:T:AV270E0.990
19:10110239:T:CL272P0.990
19:10106634:G:CR51P0.989
19:10107560:T:AV82D0.989
19:10108046:T:AV142E0.989
19:10109706:T:GY197D0.989
19:10110327:G:TG276C0.989
19:10107847:T:AV112D0.988
19:10108040:T:AL140H0.988
19:10110239:T:AL272H0.988

dbSNP variants (sampled 300 via entrez): RS1000302985 (19:10109677 C>G), RS1000836315 (19:10107201 G>T), RS1000867060 (19:10105519 A>G), RS1001462745 (19:10109292 G>A,C,T), RS1001777895 (19:10107007 T>A), RS1001914776 (19:10106782 A>G), RS1002304897 (19:10106455 C>A,T), RS1002810752 (19:10108551 T>C), RS1003260955 (19:10105247 G>A), RS1003399374 (19:10112297 C>A,T), RS1003619151 (19:10112377 G>C), RS1003777981 (19:10108865 T>C), RS1003913797 (19:10109469 C>A), RS1003961713 (19:10105328 A>C), RS1004113751 (19:10111622 CTG>C)

Disease associations

OMIM: gene MIM:607793 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): narcolepsy-cataplexy syndrome (MONDO:0016158)

Orphanet (1): Narcolepsy type 1 (Orphanet:2073)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Estradiolincreases expression2
Valproic Aciddecreases expression, increases methylation2
Cyclosporineincreases expression2
FR900359increases phosphorylation1
beauvericindecreases expression1
alpha phellandrenedecreases expression1
deoxynivalenolincreases expression1
sodium arsenitedecreases expression1
gossypol acetic acidincreases expression1
CGP 52608affects binding, increases reaction1
abrineincreases expression1
NSC 689534decreases expression, affects binding1
Temozolomideincreases expression1
Air Pollutantsaffects expression, increases abundance1
Arsenicaffects methylation1
Benzo(a)pyreneincreases methylation1
Cisplatindecreases expression1
Copperaffects binding, decreases expression1
Cycloheximideincreases expression, affects cotreatment1
Enzyme Inhibitorsdecreases activity, increases O-linked glycosylation1
Ethyl Methanesulfonatedecreases expression1
Formaldehydedecreases expression1
Hydrogen Peroxideaffects expression1
Methyl Methanesulfonatedecreases expression1
Nickelincreases expression1
Ozoneaffects expression, increases abundance1
Ribonucleotidesaffects binding1
Silicon Dioxideincreases expression1
Smokedecreases expression1
Testosteroneincreases expression1

Clinical trials (associated diseases)

49 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT02637076PHASE4COMPLETEDXyrem and Brain Dopamine in Narcolepsy
NCT01800045PHASE3COMPLETEDPitolisant to Assess Weekly Frequency of Cataplexy Attacks and EDS in Narcoleptic Patients (HARMONY CTP)
NCT02221869PHASE3COMPLETEDA Multicenter Study of the Efficacy and Safety of Xyrem With an Open- Label Pharmacokinetic Evaluation and Safety Extension in Pediatric Subjects With Narcolepsy With Cataplexy
NCT02611687PHASE3COMPLETEDEfficacy and Safety of Pitolisant in Pediatric Narcoleptic Patients With or Without Cataplexy, Double-blind Study Followed by a Prolonged Open-label Period
NCT03030599PHASE3COMPLETEDA Study of the Efficacy and Safety of JZP-258 in Subjects With Narcolepsy With Cataplexy
NCT05914194PHASE3NOT_YET_RECRUITINGA Eight-Week Study of NLS-2 (Mazindol Extended Release) in Participants With Narcolepsy Type 1
NCT06470828PHASE3COMPLETEDA Study of TAK-861 for the Treatment of Narcolepsy Type 1
NCT06505031PHASE3COMPLETEDA Study of TAK-861 in People With Narcolepsy Type 1
NCT07363720PHASE3RECRUITINGA Trial of TAK-861 for the Treatment of Narcolepsy With Cataplexy
NCT07455383PHASE3RECRUITINGA Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 1
NCT07540897PHASE3RECRUITINGA Study to Evaluate the Efficacy, Safety and Tolerability of ALKS 2680 in Adults With Narcolepsy Type 1 (Brilliance NT1 - 304)
NCT04026958PHASE2COMPLETEDClarithromycin Mechanisms in Hypersomnia Syndromes
NCT04096560PHASE2TERMINATEDA Study of TAK-994 in Adults With Type 1 and Type 2 Narcolepsy
NCT04820842PHASE2TERMINATEDA Study of TAK-994 in Adults With Narcolepsy
NCT05055024PHASE2COMPLETEDAn Open Label Study of NLS-2 (Mazindol Extended Release) in Subjects With Narcolepsy
NCT05687903PHASE2COMPLETEDA Study of TAK-861 in Participants With Narcolepsy Type 1
NCT06358950PHASE2COMPLETEDA Study to Evaluate the Safety and Effectiveness of ALKS 2680 in Subjects With Narcolepsy Type 1 (ALKS 2680-201)
NCT06752668PHASE2RECRUITINGA Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia
NCT06809803PHASE2RECRUITINGExtended-release Sodium Oxybate in Children
NCT07096674PHASE2RECRUITINGA Long-term Extension Study of ORX750 in Participants With Narcolepsy and Idiopathic Hypersomnia
NCT00345800PHASE1COMPLETEDExploratory Clinical Study to Evaluate Sodium Oxybate (Xyrem) on Potential Endocrine Changes
NCT06462404PHASE1COMPLETEDA Study to Evaluate the Efficacy, Safety, and Tolerability of E2086 Compared to Placebo and Active Comparator in Adult Participants With Narcolepsy Type 1
NCT07584434PHASE1NOT_YET_RECRUITINGA Phase 1, First-in-human Study of VX-433
NCT05816382PHASE2/PHASE3RECRUITINGA Study of TAK-861 for the Treatment of Selected Central Hypersomnia Conditions
NCT06767683PHASE2/PHASE3RECRUITINGA Long-Term Study of ALKS 2680 in Subjects With Narcolepsy and Idiopathic Hypersomnia
NCT07598708PHASE2/PHASE3NOT_YET_RECRUITINGA Study to Investigate the Effects of Cleminorexton Compared With Placebo in the Treatment of Participants With Central Disorders of Hypersomnolence
NCT03433131Not specifiedNO_LONGER_AVAILABLEExpanded Access Program to Provide Treatment With Pitolisant to Adult Patients in the U.S. With Excessive Daytime Sleepiness Associated With Narcolepsy With or Without Cataplexy
NCT04306952Not specifiedCOMPLETEDAwareness and Self-Compassion Enhancing Narcolepsy Treatment
NCT04419792Not specifiedSUSPENDED‘A Profile of Physical Performance Variables in an Out-patient Adult Population With Narcolepsy’
NCT04445129Not specifiedCOMPLETEDWake and Sleep State Transitions on a Portable Electroencephalogram (EEG) Device in Narcolepsy Type 1 (NT1) and Healthy Participants
NCT04483310Not specifiedUNKNOWNMeditation-Relaxation (MR Therapy) for Sleep Paralysis.
NCT05314556Not specifiedCOMPLETEDGroup Psychotherapy in Narcolepsy Type 1
NCT05375890Not specifiedCOMPLETEDClinical and Neurophysiological Characteristics of Narcolepsy
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  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): narcolepsy-cataplexy syndrome