EOLA1

Summary

EOLA1 (endothelium and lymphocyte associated ASCH domain 1, HGNC:28089) is a protein-coding gene on chromosome Xq28, encoding Protein EOLA1 (Q8TE69). May play a role in cell protection during the inflammatory response.

Involved in regulation of interleukin-6 production. Located in mitochondrion.

Source: NCBI Gene 91966 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 35 total — 2 pathogenic
• MANE Select transcript: NM_001171907

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28089
Approved symbol	EOLA1
Name	endothelium and lymphocyte associated ASCH domain 1
Location	Xq28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197620
Ensembl biotype	protein_coding
OMIM	300954
Entrez	91966

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 34 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000359293, ENST00000393985, ENST00000422892, ENST00000423421, ENST00000423540, ENST00000428236, ENST00000431132, ENST00000434353, ENST00000441248, ENST00000448332, ENST00000450602, ENST00000514208, ENST00000855677, ENST00000855678, ENST00000855679, ENST00000855680, ENST00000855681, ENST00000855682, ENST00000855683, ENST00000855684, ENST00000855685, ENST00000855686, ENST00000855687, ENST00000855688, ENST00000855689, ENST00000934347, ENST00000934348, ENST00000934349, ENST00000966727, ENST00000966728, ENST00000966729, ENST00000966730, ENST00000966731, ENST00000966732, ENST00000966733

RefSeq mRNA: 11 — MANE Select: NM_001171907 NM_001171907, NM_001171908, NM_001171909, NM_001324274, NM_001324275, NM_001324276, NM_001324277, NM_001324278, NM_001324279, NM_001324280, NM_178124

CCDS: CCDS14687, CCDS55522

Canonical transcript exons

ENST00000393985 — 5 exons

Exon	Start	End
ENSE00001657224	149542019	149542085
ENSE00001664665	149541012	149541343
ENSE00001739602	149545368	149545500
ENSE00001775850	149546739	149548331
ENSE00002050894	149545602	149545883

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 91.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7655 / max 109.5622, expressed in 1792 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197946	8.6815	1759
197944	1.2921	770
197945	0.7919	484

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	91.96	gold quality
mucosa of transverse colon	UBERON:0004991	90.79	gold quality
adenohypophysis	UBERON:0002196	90.57	gold quality
pituitary gland	UBERON:0000007	90.43	gold quality
heart left ventricle	UBERON:0002084	89.85	gold quality
granulocyte	CL:0000094	89.35	gold quality
left adrenal gland cortex	UBERON:0035825	89.29	gold quality
prefrontal cortex	UBERON:0000451	89.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.05	gold quality
adult mammalian kidney	UBERON:0000082	88.47	gold quality
left adrenal gland	UBERON:0001234	88.43	gold quality
heart	UBERON:0000948	88.39	gold quality
muscle of leg	UBERON:0001383	88.37	gold quality
right atrium auricular region	UBERON:0006631	88.37	gold quality
spleen	UBERON:0002106	88.28	gold quality
gastrocnemius	UBERON:0001388	88.27	gold quality
adrenal gland	UBERON:0002369	88.27	gold quality
frontal cortex	UBERON:0001870	88.14	gold quality
body of pancreas	UBERON:0001150	88.12	gold quality
body of stomach	UBERON:0001161	88.01	gold quality
left ovary	UBERON:0002119	87.88	gold quality
right adrenal gland	UBERON:0001233	87.80	gold quality
rectum	UBERON:0001052	87.65	gold quality
mucosa of stomach	UBERON:0001199	87.60	gold quality
skeletal muscle tissue	UBERON:0001134	87.58	gold quality
transverse colon	UBERON:0001157	87.54	gold quality
ovary	UBERON:0000992	87.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.37	gold quality
muscle tissue	UBERON:0002385	87.32	gold quality
right lobe of liver	UBERON:0001114	87.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.57

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting EOLA1, 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-656-3P	100.00	72.15	2788
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270

Literature-anchored findings (GeneRIF, showing 6)

• EOLA1 and MT2A may have an important role of cell protection in inflammation reaction. (PMID:15541360)
• Findings suggest that EOLA1 is a novel gene and the interaction of EOLA1 and MT2A may play an important role in cell protection in inflammation reaction. (PMID:16215939)
• effect of inhibiting the expression of endothelial-overexpressed lipopolysaccharide-associated factor 1 (EOLA1) on proliferation of human umbilical vein endothelial cell line ECV304 (PMID:17557240)
• EOLA1 protein is localized in the nucleus and the matrix of ECV304 cells, and it plays a role as a signal transduction factor. (PMID:21223654)
• Data shows that EOLA1 in HUVEC dramatically decreased inflammation factor IL-6 production and apoptosis induced by LPS treatment. (PMID:24916366)
• The results of immunofluorescence and immunohistochemistry showed that EOLA1 was expressed in the epithelial tissues of Diabetic Foot Ulcer. (PMID:31007603)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Eola1	ENSMUSG00000045237
rattus_norvegicus	Eola2	ENSRNOG00000063254

Paralogs (1): EOLA2 (ENSG00000197021)

Protein

Protein identifiers

Protein EOLA1 — Q8TE69 (reviewed: Q8TE69)

Alternative names: Endothelial-overexpressed lipopolysaccharide-associated factor 1, Endothelium and lymphocyte associated ASCH domain 1

All UniProt accessions (3): D6RA30, D6RH26, Q8TE69

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in cell protection during the inflammatory response. In epithelial cells, negatively regulates IL6 production and apoptosis through the regulation of MT2A expression.

Subunit / interactions. Interacts with MT2A.

Tissue specificity. Expressed primarily in heart, skeletal muscle, kidney, liver and placenta. Relatively high level of expression in spleen, colon and small intestine. Almost no expression in brain, thymus, lung and peripheral blood leukocytes. Expressed in epithelial cells (at protein level).

Induction. Induced by LPS (at protein level).

Similarity. Belongs to the EOLA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TE69-1	1	yes
Q8TE69-2	2

RefSeq proteins (11): NP_001165378, NP_001165379, NP_001165380, NP_001311203, NP_001311204, NP_001311205, NP_001311206, NP_001311207, NP_001311208, NP_001311209, NP_835225 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007374	ASCH_domain	Domain
IPR015947	PUA-like_sf	Homologous_superfamily
IPR033615	EOLA1/EOLA2	Family

UniProt features (18 total): helix 6, strand 6, sequence conflict 2, chain 1, domain 1, turn 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5Y7D	X-RAY DIFFRACTION	1.71

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TE69-F1	96.35	0.97

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 105 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MORF_SKP1A, GCM_FCGR2B, GOBP_CYTOKINE_PRODUCTION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, SCHLOSSER_SERUM_RESPONSE_DN, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, KAYO_AGING_MUSCLE_UP, SCHLOSSER_MYC_AND_SERUM_RESPONSE_SYNERGY, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, ZHENG_BOUND_BY_FOXP3, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, BOCHKIS_FOXA2_TARGETS

GO Biological Process (2): regulation of gene expression (GO:0010468), regulation of interleukin-6 production (GO:0032675)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
regulation of macromolecule biosynthetic process	1
regulation of cytokine production	1
interleukin-6 production	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

210 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EOLA1	MT2A	P02795	765
EOLA1	HSFX4	A0A1B0GTS1	608
EOLA1	CXorf51A	A0A1B0GTR3	513
EOLA1	TMEM185A	Q8NFB2	480
EOLA1	TRIP4	Q15650	447
EOLA1	ZNF630	Q2M218	447
EOLA1	SPANXN4	Q5MJ08	447
EOLA1	SPANXN3	Q5MJ09	446
EOLA1	ARHGEF35	A5YM69	418
EOLA1	SPANXN2	Q5MJ10	418
EOLA1	SPANXN1	Q5VSR9	417
EOLA1	RTL5	Q5HYW3	398
EOLA1	MAGEA9B	P43362	393
EOLA1	SPANXD	Q9BXN6	392
EOLA1	JKAMP	Q9P055	375

IntAct

9 interactions, top by confidence:

A	B	Type	Score
EOLA1	MT2A	psi-mi:“MI:0915”(physical association)	0.510
EOLA1	CRYGS	psi-mi:“MI:0915”(physical association)	0.400
EOLA1	GTF2IRD1	psi-mi:“MI:0915”(physical association)	0.400
FAM218A	NME2P1	psi-mi:“MI:0914”(association)	0.350
HINT2	CST4	psi-mi:“MI:0914”(association)	0.350
FIGNL2	EOLA1	psi-mi:“MI:0914”(association)	0.350
EOLA1	AGRN	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): CXorf40A (Synthetic Lethality), CRYGS (Affinity Capture-MS), CXorf40A (Affinity Capture-MS), CXorf40A (Affinity Capture-MS), CXorf40A (Affinity Capture-MS), GTF2IRD1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A2IBN3, A0A0H3G0N3, A1K7I0, A5UDX7, A5UHQ2, B0U5U4, B2FJE7, B2I916, B4SMR2, B5Y822, K2PFJ6, O31151, O65979, O84252, O84340, O87455, P03028, P06519, P0AFH0, P0AFH1, P0DUD5, P19220, P21220, P31858, P44410, P44687, P44857, P45876, P73412, P78578, Q0HPW7, Q0I2G8, Q1MSG8, Q1QBY7, Q2YAC1, Q30YX9, Q4FS24, Q4QMF0, Q55575, Q5RAX6

Diamond homologs: Q5RAX6, Q8TE69, Q96DE9, Q9D1F3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	15
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1077156	GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1	Pathogenic
58007	GRCh38/hg38 Xq28(chrX:149429424-149617725)x0	Pathogenic

SpliceAI

844 predictions. Top by Δscore:

Variant	Effect	Δscore
X:149545363:TCTA:T	acceptor_loss	1.0000
X:149545364:CTAG:C	acceptor_loss	1.0000
X:149545366:A:AG	acceptor_gain	1.0000
X:149545366:AG:A	acceptor_loss	1.0000
X:149545366:AGCT:A	acceptor_gain	1.0000
X:149545367:G:GA	acceptor_gain	1.0000
X:149545367:GC:G	acceptor_gain	1.0000
X:149545367:GCT:G	acceptor_gain	1.0000
X:149545367:GCTG:G	acceptor_gain	1.0000
X:149545367:GCTGT:G	acceptor_gain	1.0000
X:149545497:CAAG:C	donor_loss	1.0000
X:149545500:GGT:G	donor_loss	1.0000
X:149545501:GTC:G	donor_loss	1.0000
X:149545502:T:A	donor_loss	1.0000
X:149545850:A:T	donor_gain	1.0000
X:149545879:AGCGG:A	donor_gain	1.0000
X:149545880:GCGG:G	donor_gain	1.0000
X:149545880:GCGGG:G	donor_gain	1.0000
X:149545881:CGG:C	donor_gain	1.0000
X:149545881:CGGGT:C	donor_loss	1.0000
X:149545882:GG:G	donor_gain	1.0000
X:149545882:GGG:G	donor_gain	1.0000
X:149545882:GGGT:G	donor_loss	1.0000
X:149545883:GG:G	donor_gain	1.0000
X:149545883:GGTA:G	donor_loss	1.0000
X:149545884:G:GG	donor_gain	1.0000
X:149545884:GTAA:G	donor_loss	1.0000
X:149545885:T:A	donor_loss	1.0000
X:149546733:GTACA:G	acceptor_loss	1.0000
X:149546735:ACAGG:A	acceptor_loss	1.0000

AlphaMissense

1017 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:149545693:G:C	K21N	0.974
X:149545693:G:T	K21N	0.974
X:149545752:T:A	V41D	0.968
X:149546874:T:C	L130S	0.968
X:149546912:T:C	F143L	0.967
X:149546914:C:A	F143L	0.967
X:149546914:C:G	F143L	0.967
X:149545749:C:A	A40D	0.965
X:149545652:T:C	F8L	0.957
X:149545654:C:A	F8L	0.957
X:149545654:C:G	F8L	0.957
X:149545878:T:A	I83K	0.953
X:149546870:T:A	W129R	0.949
X:149546870:T:C	W129R	0.949
X:149545680:T:C	L17S	0.942
X:149545787:T:A	W53R	0.942
X:149545787:T:C	W53R	0.942
X:149546745:T:A	V87D	0.939
X:149546739:G:A	G85E	0.933
X:149545677:T:A	V16D	0.927
X:149545756:C:A	H42Q	0.926
X:149545756:C:G	H42Q	0.926
X:149545668:C:A	A13D	0.925
X:149545883:G:A	G85R	0.924
X:149545883:G:C	G85R	0.924
X:149545878:T:G	I83R	0.921
X:149545643:T:C	C5R	0.920
X:149545701:A:T	E24V	0.920
X:149545645:C:G	C5W	0.918
X:149545754:C:G	H42D	0.913

dbSNP variants (sampled 300 via entrez): RS10482432 (X:149554995 C>T), RS11117532 (X:149545209 G>A,C,T), RS111314546 (X:149540963 C>A,G), RS111737620 (X:149555400 G>C), RS111817192 (X:149539255 T>A,C,G), RS112620590 (X:149543525 C>T), RS112658167 (X:149540853 G>A,C), RS113049484 (X:149540840 C>A,G,T), RS113517974 (X:149544539 G>A), RS113702395 (X:149546516 C>G), RS114869151 (X:149541491 G>A), RS1156403178 (X:149552058 G>A), RS1156515141 (X:149549729 A>C,G), RS1156834113 (X:149538960 G>A), RS1156838644 (X:149554224 G>A)

Disease associations

OMIM: gene MIM:300954 | disease phenotypes: MIM:309900

GenCC curated gene-disease

Mondo (1): mucopolysaccharidosis type 2 (MONDO:0010674)

Orphanet (2): Mucopolysaccharidosis type 2 (Orphanet:580), Mucopolysaccharidosis with skin involvement (Orphanet:79388)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016532	Mucopolysaccharidosis II	C10.597.606.360.455.750; C16.320.322.500.750; C16.320.400.525.750; C16.320.565.202.715.645; C16.320.565.595.600.645; C17.300.550.575.645; C18.452.648.202.715.645; C18.452.648.595.600.645

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
Cadmium Chloride	increases expression, decreases expression, increases abundance	2
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Selenium	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00607386	PHASE4	COMPLETED	Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
NCT02455622	PHASE4	COMPLETED	Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age
NCT05058391	PHASE4	COMPLETED	A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
NCT05494593	PHASE4	WITHDRAWN	A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
NCT01645189	PHASE3	COMPLETED	Safety and Efficacy of Hunterase
NCT03920540	PHASE3	COMPLETED	A Study of GC1111 in Hunter Syndrom Patients
NCT07236606	PHASE3	SUSPENDED	RGX-121-3102 Gene Therapy in Participants With MPS II (Hunter Syndrome)
NCT07344376	PHASE3	COMPLETED	An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT04532047	PHASE1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT04539340	PHASE1	COMPLETED	A Multi-cohort Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
NCT05422482	PHASE1	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients with MPS Ⅱ
NCT06475404	PHASE1	COMPLETED	A Study of the Tolerance, Safety, and Pharmacokinetics of GNR-055 in Healthy Volunteers
NCT00630747	PHASE2/PHASE3	COMPLETED	Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase
NCT02055118	PHASE2/PHASE3	COMPLETED	Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
NCT02412787	PHASE2/PHASE3	COMPLETED	Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094
NCT03566043	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)
NCT05208281	PHASE2/PHASE3	RECRUITING	A Multi-cohort Study of Safety, Efficacy, PK and PD of GNR-055 in Patients With Mucopolysaccharidosis Type II
NCT06031259	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Extension Study of Idursulfase-IT Along With Elaprase in Children and Adults With Hunter Syndrome and Cognitive Impairment
NCT00920647	PHASE1/PHASE2	COMPLETED	A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT01506141	PHASE1/PHASE2	COMPLETED	An Extension Study of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase-IT in Conjunction With Elaprase in Pediatric Participants With Hunter Syndrome and Cognitive Impairment
NCT02437253	PHASE1/PHASE2	COMPLETED	Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
NCT03041324	PHASE1/PHASE2	TERMINATED	Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II
NCT04571970	PHASE1/PHASE2	COMPLETED	RGX-121 Gene Therapy in Children 5 Years of Age and Over With MPS II (Hunter Syndrome)
NCT00882921	Not specified	COMPLETED	An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients
NCT00937794	Not specified	COMPLETED	Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®
NCT01330277	Not specified	TERMINATED	Biomarkers for Hunter Syndrome
NCT01449240	Not specified	COMPLETED	Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
NCT01822184	Not specified	COMPLETED	Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
NCT01870375	Not specified	COMPLETED	Longitudinal Studies of Brain Structure and Function in MPS Disorders
NCT01938014	Not specified	COMPLETED	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
NCT02044692	Not specified	UNKNOWN	The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients
NCT03161171	Not specified	COMPLETED	Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
NCT03292887	Not specified	COMPLETED	Hunter Outcome Survey (HOS)
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03582449	Not specified	COMPLETED	Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701)
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04976231	Not specified	TERMINATED	MPS II Immunophenotyping