SUCO

Summary

SUCO (SUN domain containing ossification factor, HGNC:1240) is a protein-coding gene on chromosome 1q24.3, encoding SUN domain-containing ossification factor (Q9UBS9). Required for bone modeling during late embryogenesis.

Predicted to be involved in positive regulation of collagen biosynthetic process; positive regulation of osteoblast differentiation; and regulation of bone remodeling. Predicted to be located in rough endoplasmic reticulum. Predicted to be active in cytoplasm and membrane.

Source: NCBI Gene 51430 — RefSeq curated summary.

At a glance

• Gene–disease (curated): osteogenesis imperfecta (Moderate, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 565 total
• MANE Select transcript: NM_014283

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1240
Approved symbol	SUCO
Name	SUN domain containing ossification factor
Location	1q24.3
Locus type	gene with protein product
Status	Approved
Aliases	CH1, SLP1, OPT
Ensembl gene	ENSG00000094975
Ensembl biotype	protein_coding
OMIM	619434
Entrez	51430

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 retained_intron, 4 protein_coding

ENST00000263688, ENST00000367723, ENST00000486569, ENST00000608566, ENST00000608673, ENST00000608804, ENST00000609685, ENST00000610051, ENST00000616058

RefSeq mRNA: 4 — MANE Select: NM_014283 NM_001282750, NM_001282751, NM_014283, NM_016227

CCDS: CCDS1303, CCDS65726, CCDS65727, CCDS72984

Canonical transcript exons

ENST00000263688 — 24 exons

Exon	Start	End
ENSE00000451153	172608747	172608802
ENSE00000610473	172573891	172573998
ENSE00000789837	172553260	172553370
ENSE00000789845	172569019	172569142
ENSE00000789847	172570663	172570730
ENSE00000789852	172578298	172578389
ENSE00000789861	172602696	172602787
ENSE00000814616	172555869	172556023
ENSE00000814617	172557280	172557417
ENSE00000814618	172557644	172557794
ENSE00000814620	172570047	172570171
ENSE00000814626	172579202	172579267
ENSE00000814629	172588760	172589926
ENSE00000814630	172590984	172591071
ENSE00000814631	172600064	172600168
ENSE00000814632	172602064	172602218
ENSE00001068358	172585018	172585086
ENSE00001068360	172551512	172551626
ENSE00001068365	172585858	172585948
ENSE00001068367	172575518	172575623
ENSE00001068368	172577539	172577559
ENSE00001068370	172577764	172577819
ENSE00001906524	172533150	172533497
ENSE00003719083	172609816	172611833

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 98.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.4571 / max 342.1206, expressed in 1783 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6696	12.9212	1752
6694	3.3316	1220
6695	1.3904	825
6697	0.3259	137
6698	0.1824	77
6693	0.1641	72
6700	0.1416	54

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	98.48	gold quality
seminal vesicle	UBERON:0000998	96.80	gold quality
jejunal mucosa	UBERON:0000399	96.59	gold quality
germinal epithelium of ovary	UBERON:0001304	96.46	gold quality
sperm	CL:0000019	95.72	gold quality
parietal pleura	UBERON:0002400	95.38	gold quality
bone marrow cell	CL:0002092	95.19	gold quality
bone marrow	UBERON:0002371	95.17	gold quality
male germ cell	CL:0000015	95.07	gold quality
caput epididymis	UBERON:0004358	94.93	gold quality
cauda epididymis	UBERON:0004360	94.46	gold quality
hair follicle	UBERON:0002073	94.38	gold quality
pleura	UBERON:0000977	93.89	gold quality
oocyte	CL:0000023	93.75	gold quality
calcaneal tendon	UBERON:0003701	93.51	gold quality
palpebral conjunctiva	UBERON:0001812	93.49	gold quality
ventricular zone	UBERON:0003053	93.28	gold quality
tongue squamous epithelium	UBERON:0006919	93.26	gold quality
islet of Langerhans	UBERON:0000006	93.23	gold quality
tibia	UBERON:0000979	92.91	gold quality
secondary oocyte	CL:0000655	92.68	gold quality
pancreas	UBERON:0001264	92.42	gold quality
cartilage tissue	UBERON:0002418	92.42	gold quality
eye	UBERON:0000970	92.38	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.27	gold quality
visceral pleura	UBERON:0002401	92.24	gold quality
body of pancreas	UBERON:0001150	91.95	gold quality
adrenal tissue	UBERON:0018303	91.76	gold quality
lower lobe of lung	UBERON:0008949	91.53	gold quality
embryo	UBERON:0000922	91.50	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

161 targeting SUCO, 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-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394

Literature-anchored findings (GeneRIF, showing 1)

• neurons have abnormal development due to lack of SUCO, which may be a generalized-onset epilepsy-related gene (PMID:25668491)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	suco	ENSDARG00000016532
mus_musculus	Suco	ENSMUSG00000040297
rattus_norvegicus	Suco	ENSRNOG00000026542
drosophila_melanogaster	CG31678	FBGN0051678
caenorhabditis_elegans	suco-1	WBGENE00020031

Protein

Protein identifiers

SUN domain-containing ossification factor — Q9UBS9 (reviewed: Q9UBS9)

Alternative names: Membrane protein CH1, Protein osteopotentia homolog, SUN-like protein 1

All UniProt accessions (3): Q9UBS9, A0A087WV04, B4DYM4

UniProt curated annotations — full annotation on UniProt →

Function. Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation.

Subcellular location. Rough endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in pancreas and testis and to a lower extent in prostate, ovary, heart, thymus, small intestine and spleen.

Post-translational modifications. O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. N-glycosylated.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UBS9-1	1	yes
Q9UBS9-2	2

RefSeq proteins (4): NP_001269679, NP_001269680, NP_055098, NP_057311 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR012919	SUN_dom	Domain
IPR045120	Suco/Slp1-like	Family

Pfam: PF07738

UniProt features (29 total): region of interest 7, compositionally biased region 6, glycosylation site 5, splice variant 3, sequence conflict 2, signal peptide 1, chain 1, coiled-coil region 1, modified residue 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBS9-F1	53.03	0.17

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 (1): 1081

Glycosylation sites (5): 202, 236, 524, 928, 955

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 268 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, GSE45365_NK_CELL_VS_BCELL_DN, GCACCTT_MIR18A_MIR18B, RRAGTTGT_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, CMYB_01, GOBP_OSTEOBLAST_DIFFERENTIATION, PATIL_LIVER_CANCER, GTGCCTT_MIR506, MARTINEZ_RB1_TARGETS_UP, MODULE_239, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_BONE_REMODELING, BOYAULT_LIVER_CANCER_SUBCLASS_G123_UP, HTF_01

GO Biological Process (4): ossification (GO:0001503), positive regulation of collagen biosynthetic process (GO:0032967), positive regulation of osteoblast differentiation (GO:0045669), regulation of bone remodeling (GO:0046850)

GO Molecular Function (0):

GO Cellular Component (5): cytoplasm (GO:0005737), rough endoplasmic reticulum (GO:0005791), membrane (GO:0016020), rough endoplasmic reticulum membrane (GO:0030867), endoplasmic reticulum (GO:0005783)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
multicellular organismal process	1
positive regulation of biosynthetic process	1
positive regulation of collagen metabolic process	1
collagen biosynthetic process	1
regulation of collagen biosynthetic process	1
osteoblast differentiation	1
positive regulation of cell differentiation	1
regulation of osteoblast differentiation	1
regulation of tissue remodeling	1
bone remodeling	1
intracellular anatomical structure	1
endoplasmic reticulum	1
endoplasmic reticulum membrane	1
rough endoplasmic reticulum	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1150 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUCO	MYL3	P08590	890
SUCO	HIF1A	Q16665	865
SUCO	FCGRT	P55899	735
SUCO	EP300	Q09472	685
SUCO	EPAS1	Q99814	663
SUCO	HSP90AA1	P07900	651
SUCO	AHSA1	O95433	640
SUCO	ARHGAP33	O14559	618
SUCO	CDR2	Q01850	610
SUCO	IGLL5	B9A064	605
SUCO	CITED2	Q99967	593
SUCO	IGHV4-38-2	P0DP08	581
SUCO	EIF5B	O60841	534
SUCO	ACTN4	O43707	530
SUCO	DUSP1	P28562	529

IntAct

31 interactions, top by confidence:

A	B	Type	Score
P4HB	P4HA2	psi-mi:“MI:0914”(association)	0.740
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
KCNS3	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
P4HB	ZBTB2	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.530
DNASE2B	ARSA	psi-mi:“MI:0914”(association)	0.530
SUCO	H4C16	psi-mi:“MI:0915”(physical association)	0.400
Mis12		psi-mi:“MI:0914”(association)	0.350
Ptpn13	CHPF2	psi-mi:“MI:0914”(association)	0.350
Tapt1	DERL1	psi-mi:“MI:0914”(association)	0.350
SUCO	RPL10	psi-mi:“MI:0914”(association)	0.350
TRAPPC1	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
DNASE2B		psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAZ	SPEG	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAQ	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
YWHAZ	HECTD4	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
PSTPIP1	SUCO	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (83): SUCO (Affinity Capture-MS), SUCO (Affinity Capture-MS), CALU (Affinity Capture-MS), TNPO1 (Affinity Capture-MS), P4HB (Affinity Capture-MS), PREP (Affinity Capture-MS), PSMD11 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), PHLDA2 (Affinity Capture-MS), MED24 (Affinity Capture-MS), NIPBL (Affinity Capture-MS), NDUFB11 (Affinity Capture-MS), SLC35F6 (Affinity Capture-MS), ELOVL5 (Affinity Capture-MS), GMCL1 (Affinity Capture-MS)

ESM2 similar proteins: A9QM73, B9DHD7, F4HP88, F4I316, F4I7C7, F4I8I0, F4JPE9, F4JRP0, F4JTI1, F4K1B1, F4K487, F4K4D6, M1BJF6, O04539, O48686, O48802, O65573, O81283, P0C8Q4, P48785, Q0D5P3, Q0WUR5, Q12232, Q710E6, Q8GZ87, Q8W4L5, Q940Y3, Q9C5S2, Q9FGT1, Q9FKV5, Q9FNE4, Q9FPT5, Q9LFQ3, Q9LFY0, Q9LNC4, Q9LUM0, Q9LUQ3, Q9LYE3, Q9M658, Q9MA60

Diamond homologs: F4I316, F4I8I0, F4JPE9, O59729, Q12232, Q54MI3, Q710E6, Q8C341, Q9UBS9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 35 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:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	5	165.5×	5e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	5	146.0×	6e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	5	146.0×	6e-09
Activation of BH3-only proteins	5	107.9×	3e-08
RHO GTPases activate PKNs	5	69.0×	3e-07
Intrinsic Pathway for Apoptosis	5	63.7×	3e-07
SARS-CoV-1-host interactions	5	38.2×	4e-06
Apoptosis	5	36.5×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	5	19.4×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	347
Likely benign	175
Benign	19

Top pathogenic / likely-pathogenic (0)

SpliceAI

3059 predictions. Top by Δscore:

Variant	Effect	Δscore
1:172533493:GTCTG:G	donor_gain	1.0000
1:172533495:CTGG:C	donor_loss	1.0000
1:172533496:TGGTG:T	donor_loss	1.0000
1:172533498:G:GG	donor_gain	1.0000
1:172533499:T:A	donor_loss	1.0000
1:172551482:T:A	acceptor_gain	1.0000
1:172551489:T:A	acceptor_gain	1.0000
1:172551507:TACAG:T	acceptor_loss	1.0000
1:172551509:CA:C	acceptor_loss	1.0000
1:172551510:A:AG	acceptor_gain	1.0000
1:172551510:AG:A	acceptor_gain	1.0000
1:172551511:G:GA	acceptor_gain	1.0000
1:172551511:GG:G	acceptor_gain	1.0000
1:172551622:AAAAG:A	donor_loss	1.0000
1:172551623:AAAG:A	donor_loss	1.0000
1:172551624:AAGGT:A	donor_loss	1.0000
1:172551625:AGGTG:A	donor_loss	1.0000
1:172551626:GGTGC:G	donor_loss	1.0000
1:172551627:G:T	donor_loss	1.0000
1:172551628:T:G	donor_loss	1.0000
1:172553371:G:GG	donor_gain	1.0000
1:172553376:C:G	donor_gain	1.0000
1:172555863:A:AG	acceptor_gain	1.0000
1:172555867:A:AG	acceptor_gain	1.0000
1:172555867:A:AT	acceptor_loss	1.0000
1:172555868:G:GT	acceptor_gain	1.0000
1:172555868:GA:G	acceptor_gain	1.0000
1:172555868:GAA:G	acceptor_gain	1.0000
1:172555868:GAAT:G	acceptor_gain	1.0000
1:172555868:GAATA:G	acceptor_gain	1.0000

AlphaMissense

8224 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:172569098:T:G	F271C	1.000
1:172569106:T:A	W274R	1.000
1:172569106:T:C	W274R	1.000
1:172569108:G:C	W274C	1.000
1:172569108:G:T	W274C	1.000
1:172570122:C:A	A311D	1.000
1:172570133:T:C	C315R	1.000
1:172570135:T:G	C315W	1.000
1:172570137:G:A	G316D	1.000
1:172570140:C:A	A317D	1.000
1:172570679:T:C	L333P	1.000
1:172570715:G:A	C345Y	1.000
1:172570716:C:G	C345W	1.000
1:172573905:T:C	L355P	1.000
1:172573907:T:C	C356R	1.000
1:172573908:G:A	C356Y	1.000
1:172573909:T:G	C356W	1.000
1:172573955:T:C	F372L	1.000
1:172573957:T:A	F372L	1.000
1:172573957:T:G	F372L	1.000
1:172573983:T:A	V381D	1.000
1:172573991:A:C	S384R	1.000
1:172573993:T:A	S384R	1.000
1:172573993:T:G	S384R	1.000
1:172575534:T:A	W392R	1.000
1:172575534:T:C	W392R	1.000
1:172575536:G:C	W392C	1.000
1:172575536:G:T	W392C	1.000
1:172577800:T:C	C441R	1.000
1:172577801:G:A	C441Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000027110 (1:172535503 C>G), RS1000096698 (1:172588083 A>C,G), RS1000120342 (1:172540258 G>A), RS1000149093 (1:172605242 C>A), RS1000153355 (1:172568057 A>C), RS1000180563 (1:172605016 G>A,T), RS1000202675 (1:172530865 T>C), RS1000242796 (1:172548567 A>G), RS1000295027 (1:172548285 T>C), RS1000297003 (1:172592303 A>G), RS1000384572 (1:172597241 T>G), RS1000405115 (1:172611695 C>T), RS1000410418 (1:172580686 A>C), RS1000492298 (1:172561005 C>T), RS1000514883 (1:172588438 G>A,C)

Disease associations

OMIM: gene MIM:619434 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
osteogenesis imperfecta	Moderate	Autosomal recessive
temporal lobe epilepsy	Limited	Autosomal dominant

Mondo (2): temporal lobe epilepsy (MONDO:0005115), osteogenesis imperfecta (MONDO:0019019)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003448_5	Erythrocyte cadmium concentration in never smokers	5.000000e-06
GCST003518_51	Daytime sleep phenotypes	3.000000e-06
GCST009391_1133	Metabolite levels	6.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007828	daytime rest measurement
EFO:0010489	glycerophosphocholine measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D004833	Epilepsy, Temporal Lobe	C10.228.140.490.360.290; C10.228.140.490.493.375
D010013	Osteogenesis Imperfecta	C05.116.099.708.685; C16.320.737; C17.300.200.540

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
Tretinoin	increases expression	2
GSK-J4	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Dimethyl Sulfoxide	decreases expression	1
Estradiol	increases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	decreases methylation, increases expression	1
Aflatoxin B1	decreases methylation	1
Asbestos, Serpentine	decreases methylation	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00595699	PHASE4	COMPLETED	Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy
NCT00131469	PHASE4	COMPLETED	Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis Imperfecta
NCT00159419	PHASE4	COMPLETED	Bisphosphonate Therapy for Osteogenesis Imperfecta
NCT01713231	PHASE4	COMPLETED	Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta
NCT02303873	PHASE4	COMPLETED	Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis Imperfecta
NCT03735537	PHASE4	COMPLETED	Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid
NCT04152551	PHASE4	RECRUITING	Effects of Bisphosphonates on OI-Related Hearing Loss
NCT00717431	PHASE3	TERMINATED	A Multicenter Study of Hippocampal Electrical Stimulation (HS, in Mesial Temporal Lobe Epilepsy
NCT00001305	PHASE3	COMPLETED	Growth Hormone Therapy in Osteogenesis Imperfecta
NCT00005901	PHASE3	COMPLETED	Pamidronate to Treat Osteogenesis Imperfecta in Children
NCT00106028	PHASE3	COMPLETED	Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children
NCT00982124	PHASE3	COMPLETED	An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis Imperfecta
NCT02352753	PHASE3	TERMINATED	Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
NCT03638128	PHASE3	TERMINATED	Open-label Extension of Study 20130173 of Denosumab in Children and Young Adults With Osteogenesis Imperfecta
NCT05768854	PHASE3	ACTIVE_NOT_RECRUITING	Setrusumab vs Bisphosphonates in Pediatric Subjects With Osteogenesis Imperfecta
NCT05972551	PHASE3	ACTIVE_NOT_RECRUITING	Study to Evaluate Efficacy and Safety of Romosozumab Compared With Bisphosphonates in Children and Adolescents With Osteogenesis Imperfecta
NCT06636071	PHASE3	ACTIVE_NOT_RECRUITING	Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta
NCT07366086	PHASE3	RECRUITING	Pediatric Safety Follow-up Study of Prior Treatment With Romosozumab for Osteogenesis Imperfecta
NCT00063479	PHASE2	COMPLETED	Bisphosphonate Treatment of Osteogenesis Imperfecta
NCT00131118	PHASE2	COMPLETED	Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis Imperfecta
NCT01417091	PHASE2	COMPLETED	Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta
NCT01679080	PHASE2	TERMINATED	The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis Imperfecta
NCT01799798	PHASE2	COMPLETED	Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab
NCT03208582	PHASE2	COMPLETED	Do Bisphosphonates Alter the Skeletal Response to Mechanical Stimulation in Children With Osteogenesis Imperfecta?
NCT03216486	PHASE2	WITHDRAWN	An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta
NCT05312697	PHASE2	TERMINATED	Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta
NCT07062588	PHASE2	RECRUITING	Osteogenesis Imperfecta Trial of AGA2115 for ADUlts With COL1A1 and/or COL1A2 GeNetic Variations (IDUN)
NCT07557446	PHASE2	NOT_YET_RECRUITING	A Dose REgimen-Finding Study of AGA2115 in Chinese Patients With Osteogenesis ImpeRfecta (EIR)
NCT05179083	PHASE1	UNKNOWN	Exercise for Brain Regeneration in Epilepsy
NCT00705120	PHASE1	COMPLETED	Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow Transplantation
NCT02172885	PHASE1	COMPLETED	Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis Imperfecta
NCT03064074	PHASE1	COMPLETED	Safety of Fresolimumab in the Treatment of Osteogenesis Imperfecta
NCT04545554	PHASE1	COMPLETED	Study to Evaluate Romosozumab in Children and Adolescents With Osteogenesis Imperfecta
NCT05231668	PHASE1	TERMINATED	Single Ascending Dose Study of SAR439459 in Adults With Osteogenesis Imperfecta (OI)
NCT06086613	PHASE1	COMPLETED	A First-in-Human Study Evaluating AGA2115 in Adult Healthy Volunteers
NCT00344877	Not specified	COMPLETED	Electrical Brain Stimulation to Reduce Epileptic Seizures
NCT02590419	Not specified	UNKNOWN	Application of Diffusion Tensor Imaging and Tractography in Epilepsy Surgery
NCT02844465	Not specified	COMPLETED	Stereotactic Laser Ablation for Temporal Lobe Epilepsy (Slate)
NCT02946151	Not specified	COMPLETED	Subcutaneous EEG in Epilepsy
NCT03643471	Not specified	UNKNOWN	Advanced Magnetic Resonance Imaging in Temporal Lobe Epilepsy