NPAP1

Summary

NPAP1 (nuclear pore associated protein 1, HGNC:1190) is a protein-coding gene on chromosome 15q11.2, encoding Nuclear pore-associated protein 1 (Q9NZP6). May be involved in spermatogenesis.

This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex.

Source: NCBI Gene 23742 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 216 total — 4 pathogenic
• Phenotypes (HPO): 95
• MANE Select transcript: NM_018958

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1190
Approved symbol	NPAP1
Name	nuclear pore associated protein 1
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000185823
Ensembl biotype	protein_coding
OMIM	610922
Entrez	23742

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000329468

RefSeq mRNA: 1 — MANE Select: NM_018958 NM_018958

CCDS: CCDS10015

Canonical transcript exons

ENST00000329468 — 1 exons

Exon	Start	End
ENSE00001317509	24675775	24683393

Expression profiles

Bgee: expression breadth broad, 40 present calls, max score 72.30.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0099 / max 10.3750, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145483	0.0099	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.30	gold quality
ileal mucosa	UBERON:0000331	62.96	silver quality
right testis	UBERON:0004534	61.52	gold quality
left testis	UBERON:0004533	59.43	gold quality
testis	UBERON:0000473	58.98	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	57.43	gold quality
deltoid	UBERON:0001476	55.66	gold quality
pancreatic ductal cell	CL:0002079	51.69	silver quality
quadriceps femoris	UBERON:0001377	51.32	gold quality
left lobe of thyroid gland	UBERON:0001120	50.76	gold quality
right uterine tube	UBERON:0001302	50.38	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.92	gold quality
vastus lateralis	UBERON:0001379	49.91	gold quality
left ovary	UBERON:0002119	49.82	gold quality
epithelial cell of pancreas	CL:0000083	49.76	gold quality
right lobe of thyroid gland	UBERON:0001119	49.41	gold quality
bone marrow cell	CL:0002092	49.37	gold quality
thyroid gland	UBERON:0002046	49.22	gold quality
skin of hip	UBERON:0001554	49.21	silver quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
body of pancreas	UBERON:0001150	48.94	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
myocardium	UBERON:0002349	48.87	gold quality
thymus	UBERON:0002370	48.86	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
orbitofrontal cortex	UBERON:0004167	48.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

123 targeting NPAP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-6124	99.87	69.78	3551

Literature-anchored findings (GeneRIF, showing 5)

• C15orf2 gene is imprinted, with monoallelic expression from the paternal allele in fetal brain. (PMID:17337158)
• The results from this study show an involvement of microdeletions at 15q11.2 that predispose patients to idiopathic generalized epilepsies. (PMID:19843651)
• These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to Prader-Willi syndrome. (PMID:20020165)
• C15orf2 is part of the nuclear pore complex or its associated molecular networks. (PMID:22694955)
• NPAP1 is specific to primate species and absent from the 15q11q13-orthologous regions in all nonprimate mammals. (PMID:24482533)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	Nup153	FBGN0061200

Paralogs (6): NUP153 (ENSG00000124789), NUP214 (ENSG00000126883), POM121L2 (ENSG00000158553), POM121 (ENSG00000196313), POM121L12 (ENSG00000221900), POM121C (ENSG00000272391)

Protein

Protein identifiers

Nuclear pore-associated protein 1 — Q9NZP6 (reviewed: Q9NZP6)

All UniProt accessions (1): Q9NZP6

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in spermatogenesis.

Subunit / interactions. Associates with the nuclear pore complex (NPC).

Subcellular location. Nucleus. Nucleoplasm. Nucleus inner membrane.

Tissue specificity. Testis-specific in adults. In fetal brain expressed only from the paternal allele.

RefSeq proteins (1): NP_061831* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026054	Nucleoporin	Family

Pfam: PF15229

UniProt features (28 total): sequence variant 11, region of interest 8, compositionally biased region 8, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZP6-F1	36.67	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 268 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, chr15q11, GOBP_NUCLEAR_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_NUCLEAR_EXPORT, GOBP_RNA_LOCALIZATION, GOBP_PROTEIN_LOCALIZATION_TO_NUCLEUS, GOCC_NUCLEAR_ENVELOPE, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_NUCLEAR_INNER_MEMBRANE

GO Biological Process (4): RNA export from nucleus (GO:0006405), protein import into nucleus (GO:0006606), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (2): nuclear localization sequence binding (GO:0008139), structural constituent of nuclear pore (GO:0017056)

GO Cellular Component (6): nuclear inner membrane (GO:0005637), nuclear pore (GO:0005643), nucleoplasm (GO:0005654), plasma membrane (GO:0005886), nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
RNA transport	1
nuclear export	1
intracellular protein transport	1
protein localization to nucleus	1
import into nucleus	1
establishment of protein localization to organelle	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
signal sequence receptor activity	1
structural molecule activity	1
nuclear pore	1
nucleocytoplasmic transport	1
organelle inner membrane	1
nuclear membrane	1
nuclear envelope	1
nuclear protein-containing complex	1
nuclear lumen	1
membrane	1
cell periphery	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

288 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NPAP1	MAGEL2	Q9UJ55	955
NPAP1	SNRPN	P14648	921
NPAP1	MKRN3	Q13064	811
NPAP1	NDN	Q99608	772
NPAP1	SNURF	Q9Y675	647
NPAP1	ATP10A	O60312	606
NPAP1	TUBGCP5	Q96RT8	575
NPAP1	NIPA2	Q8N8Q9	571
NPAP1	NIPA1	Q7RTP0	570
NPAP1	UBE3A	P78355	527
NPAP1	GABRG3	Q99928	479
NPAP1	FRMD3	A2A2Y4	450
NPAP1	OCA2	Q04671	441
NPAP1	OR5M9	Q8NGP3	435
NPAP1	RASEF	Q8IZ41	424

IntAct

3 interactions, top by confidence:

A	B	Type	Score
M		psi-mi:“MI:0914”(association)	0.350
NPAP1	ACACB	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): NPAP1 (Positive Genetic), DGCR6 (Affinity Capture-MS), LDHC (Affinity Capture-MS), LPPR4 (Affinity Capture-MS), ITGA8 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), ACACB (Affinity Capture-MS), DSG4 (Affinity Capture-MS)

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: A6NL46, A8MUA0, A8MUI8, A8MV72, A8MX80, Q5PR19, Q8N9G6, Q9NZP6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	167
Likely benign	28
Benign	7

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1180527	GRCh37/hg19 15q11.2-13.1(chr15:23616095-28538904)x1	Pathogenic
147648	GRCh38/hg38 15q11.2-13.1(chr15:23319714-28280314)x1	Pathogenic
1808719	GRCh37/hg19 15q11.2-13.1(chr15:23290787-28560269)x1	Pathogenic
2578750	GRCh37/hg19 15q11.2-13.1(chr15:23605427-28566579)x1	Pathogenic

SpliceAI

63 predictions. Top by Δscore:

Variant	Effect	Δscore
15:24676852:A:T	donor_gain	0.9800
15:24676851:G:GT	donor_gain	0.9600
15:24676908:TCGAG:T	donor_loss	0.9500
15:24676909:CGAG:C	donor_loss	0.9500
15:24676911:AGG:A	donor_loss	0.9500
15:24676912:GGTGA:G	donor_loss	0.9500
15:24676913:G:GA	donor_loss	0.9500
15:24676914:T:A	donor_loss	0.9500
15:24676915:GAGC:G	donor_loss	0.9200
15:24676702:G:GT	donor_gain	0.9100
15:24676916:AGCTT:A	donor_loss	0.7300
15:24676764:A:T	donor_gain	0.6200
15:24676910:GAG:G	donor_gain	0.6100
15:24676913:G:GG	donor_gain	0.6100
15:24676917:G:C	donor_loss	0.5900
15:24676770:G:GT	donor_gain	0.5400
15:24677624:T:TA	donor_gain	0.5200
15:24679386:A:G	donor_gain	0.4800
15:24676438:TCCC:T	donor_gain	0.4000
15:24676985:C:CG	donor_gain	0.4000
15:24676998:G:GT	donor_gain	0.4000
15:24676702:G:T	donor_gain	0.3800
15:24679555:G:GA	donor_gain	0.3700
15:24677406:G:GT	donor_gain	0.3600
15:24676985:C:G	donor_gain	0.3400
15:24676982:GCCC:G	donor_gain	0.3300
15:24677625:T:TA	donor_gain	0.3300
15:24679791:T:TA	donor_gain	0.3300
15:24679554:T:TA	donor_gain	0.3200
15:24683197:A:G	acceptor_gain	0.3100

AlphaMissense

7444 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:24676848:A:C	K327N	0.974
15:24676848:A:T	K327N	0.974
15:24676847:A:T	K327I	0.945
15:24676854:A:C	K329N	0.945
15:24676854:A:T	K329N	0.945
15:24676905:G:C	W346C	0.944
15:24676905:G:T	W346C	0.944
15:24676903:T:A	W346R	0.941
15:24676903:T:C	W346R	0.941
15:24676851:G:C	R328S	0.939
15:24676851:G:T	R328S	0.939
15:24678931:T:C	F1022L	0.938
15:24678933:C:A	F1022L	0.938
15:24678933:C:G	F1022L	0.938
15:24679324:T:C	F1153L	0.931
15:24679326:C:A	F1153L	0.931
15:24679326:C:G	F1153L	0.931
15:24676853:A:T	K329I	0.928
15:24679222:T:C	F1119L	0.927
15:24679224:T:A	F1119L	0.927
15:24679224:T:G	F1119L	0.927
15:24678415:T:C	F850L	0.920
15:24678417:T:A	F850L	0.920
15:24678417:T:G	F850L	0.920
15:24678811:T:C	F982L	0.912
15:24678813:T:A	F982L	0.912
15:24678813:T:G	F982L	0.912
15:24676214:T:C	I116T	0.910
15:24676852:A:G	K329E	0.907
15:24676060:T:C	F65L	0.897

dbSNP variants (sampled 300 via entrez): RS1000130451 (15:24680636 G>A,C,T), RS1000194458 (15:24680026 G>A), RS1000262238 (15:24678945 C>A,G,T), RS1000729261 (15:24678925 A>C,G,T), RS1001161563 (15:24678722 A>C,G,T), RS1001200184 (15:24673893 A>G), RS1001240526 (15:24679599 T>C), RS1001818216 (15:24674151 A>C,G), RS1002215458 (15:24681766 TAAAG>T), RS1002247974 (15:24677980 C>T), RS1002267836 (15:24681968 C>T), RS1002563918 (15:24683219 G>A,C,T), RS1002823702 (15:24676871 T>C), RS1003102966 (15:24683244 T>C), RS1003545061 (15:24683037 A>T)

Disease associations

OMIM: gene MIM:610922 | disease phenotypes: MIM:176270

GenCC curated gene-disease

Mondo (1): Prader-Willi syndrome (MONDO:0008300)

Orphanet (1): Prader-Willi syndrome (Orphanet:739)

HPO phenotypes

95 total (30 of 95 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000046	Small scrotum
HP:0000054	Micropenis
HP:0000060	Clitoral hypoplasia
HP:0000064	Hypoplastic labia minora
HP:0000219	Thin upper lip vermilion
HP:0000268	Dolichocephaly
HP:0000341	Narrow forehead
HP:0000446	Narrow nasal bridge
HP:0000486	Strabismus
HP:0000540	Hypermetropia
HP:0000545	Myopia
HP:0000565	Esotropia
HP:0000582	Upslanted palpebral fissure
HP:0000670	Carious teeth
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000717	Autism
HP:0000750	Delayed speech and language development
HP:0000786	Primary amenorrhea
HP:0000789	Infertility
HP:0000823	Delayed puberty
HP:0000824	Decreased response to growth hormone stimulation test
HP:0000826	Precocious puberty
HP:0000842	Hyperinsulinemia
HP:0000846	Adrenal insufficiency
HP:0000876	Oligomenorrhea
HP:0000938	Osteopenia

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST001762_365	Obesity-related traits	7.000000e-06
GCST002129_14	Periodontitis (DPAL)	6.000000e-06
GCST007130_5	Cerebrospinal fluid t-tau:AB1-42 ratio	5.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0007708	t-tau:beta-amyloid 1-42 ratio measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D011218	Prader-Willi Syndrome	C10.597.606.360.690; C16.131.077.730; C16.131.260.700; C16.320.180.700; C16.320.447.500; C18.654.726.750.500.740

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
bisphenol S	decreases methylation, affects cotreatment	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01298180	PHASE4	COMPLETED	Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome?
NCT01542242	PHASE4	TERMINATED	Liraglutide Use in Prader-Willi Syndrome
NCT03031626	PHASE4	COMPLETED	Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome
NCT03616509	PHASE4	COMPLETED	GH in Adults With PWS, Effect on Hypotonia Evaluated by Functional MRI, Relationship With Strength and Body Composition
NCT04066088	PHASE4	WITHDRAWN	Dose Clinical Trial of Guanfacine Extended Release for the Reduction of Aggression and Self-injuries Behavior Associated With Prader-Willi Syndrome
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT06901245	PHASE4	RECRUITING	Tirzepatide in PWS, HO and GNSO
NCT00175305	PHASE3	TERMINATED	Prader-Willi Syndrome and Appetite
NCT00444964	PHASE3	COMPLETED	Growth Hormone Use in Adults With Prader-Willi Syndrome
NCT00603109	PHASE3	TERMINATED	Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome
NCT02179151	PHASE3	TERMINATED	Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome
NCT02204163	PHASE3	COMPLETED	Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome
NCT02810483	PHASE3	TERMINATED	Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks
NCT03440814	PHASE3	COMPLETED	A Study of Diazoxide Choline in Patients With Prader-Willi Syndrome
NCT03554031	PHASE3	UNKNOWN	A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome
NCT03649477	PHASE3	COMPLETED	Phase 3 Study of Intranasal Carbetocin (LV-101) in Patients With Prader-Willi Syndrome
NCT03714373	PHASE3	COMPLETED	Open-Label Extension Study of DCCR in PWS Followed by Double-Blind, Placebo-Controlled, Randomized Withdrawal Period
NCT04086810	PHASE3	WITHDRAWN	An Open-Label Study of DCCR Tablet in Patients With PWS
NCT04283578	PHASE3	COMPLETED	Oxytocin Treatment in Neonates and Infants With Prader-Willi Syndrome
NCT04697381	PHASE3	COMPLETED	Study of the Efficacy and Safety of Somatropin in Japanese Participants With PWS
NCT05032326	PHASE3	UNKNOWN	Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial
NCT05387798	PHASE3	WITHDRAWN	A Phase 3 Extension Study of RAD011 (Cannabidiol Oral Solution) in Patients With Prader-Willi Syndrome
NCT05701774	PHASE3	ACTIVE_NOT_RECRUITING	Open-Label Extension Study of DCCR in Patients With Prader-Willi Syndrome
NCT06144645	PHASE3	ACTIVE_NOT_RECRUITING	A Clinical Evaluation of Non-Invasive Vagus Nerve Stimulation for Temper Outbursts in People With PWS
NCT06366464	PHASE3	RECRUITING	A Study of Pitolisant in Patients With Prader-Willi Syndrome
NCT06828861	PHASE3	SUSPENDED	ARD-101 for Treatment of PWS: The Hunger Elimination or Reduction Objective Trial
NCT07197034	PHASE3	SUSPENDED	The Hunger Elimination or Reduction Objective (HERO ) Open -Label Extension (OLE) Trial
NCT07219485	PHASE3	ENROLLING_BY_INVITATION	A Study of Pitolisant in Participants With Prader-Willi Syndrome
NCT01038570	PHASE2	COMPLETED	Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo
NCT01818921	PHASE2	COMPLETED	An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome
NCT02311673	PHASE2	COMPLETED	Phase 2 Trial to Evaluate Safety and Efficacy of Setmelanotide (RM-493) in Obese Participants With Prader-Willi Syndrome
NCT02629991	PHASE2	COMPLETED	Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
NCT02844933	PHASE2	TERMINATED	Cannabidiol Oral Solution for the Treatment of Patients With Prader-Willi Syndrome
NCT02893618	PHASE2	UNKNOWN	A 5 Treatment Period Pharmacokinetic Study Evaluating Dose Proportionality and Food Effects of Diazoxide Choline Controlled-Release Tablet (DCCR)
NCT03197662	PHASE2	COMPLETED	Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Prader-Willi Syndrome
NCT03274856	PHASE2	COMPLETED	A Study of GLWL-01 in Patients With Prader-Willi Syndrome
NCT03458416	PHASE2	TERMINATED	A Study to Assess the Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Participants With Prader-Willi Syndrome
NCT03831425	PHASE2	WITHDRAWN	Mitochondrial Complex I Dysfunction in PWS
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