SNX22

Summary

SNX22 (sorting nexin 22, HGNC:16315) is a protein-coding gene on chromosome 15q22.31, encoding Sorting nexin-22 (Q96L94). May be involved in several stages of intracellular trafficking.

The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene.

Source: NCBI Gene 79856 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 43 total — 4 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_024798

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16315
Approved symbol	SNX22
Name	sorting nexin 22
Location	15q22.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13952
Ensembl gene	ENSG00000157734
Ensembl biotype	protein_coding
Entrez	79856

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 retained_intron, 3 protein_coding, 1 nonsense_mediated_decay

ENST00000325881, ENST00000557789, ENST00000558466, ENST00000560607, ENST00000560945, ENST00000560997, ENST00000561334, ENST00000898205, ENST00000898206

RefSeq mRNA: 1 — MANE Select: NM_024798 NM_024798

CCDS: CCDS10190

Canonical transcript exons

ENST00000325881 — 7 exons

Exon	Start	End
ENSE00001034629	64152243	64152326
ENSE00001136609	64151731	64151850
ENSE00001267685	64154387	64157481
ENSE00003460586	64152638	64152742
ENSE00003511786	64153245	64153339
ENSE00003537636	64153935	64154002
ENSE00003569181	64153652	64153684

Expression profiles

Bgee: expression breadth ubiquitous, 201 present calls, max score 96.95.

FANTOM5 (CAGE): breadth broad, TPM avg 3.3122 / max 279.4766, expressed in 407 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147168	3.2336	403
147169	0.0786	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	96.95	gold quality
pancreatic ductal cell	CL:0002079	94.79	silver quality
left lobe of thyroid gland	UBERON:0001120	94.75	gold quality
thyroid gland	UBERON:0002046	93.77	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.25	gold quality
spinal cord	UBERON:0002240	91.93	gold quality
inferior vagus X ganglion	UBERON:0005363	91.46	gold quality
buccal mucosa cell	CL:0002336	91.31	gold quality
medial globus pallidus	UBERON:0002477	90.80	gold quality
trabecular bone tissue	UBERON:0002483	90.52	gold quality
globus pallidus	UBERON:0001875	90.27	gold quality
tendon of biceps brachii	UBERON:0008188	90.12	silver quality
subthalamic nucleus	UBERON:0001906	90.09	gold quality
vena cava	UBERON:0004087	90.03	silver quality
substantia nigra	UBERON:0002038	89.37	gold quality
midbrain	UBERON:0001891	89.15	gold quality
amygdala	UBERON:0001876	88.72	gold quality
pons	UBERON:0000988	88.64	gold quality
ventral tegmental area	UBERON:0002691	88.06	gold quality
dorsal plus ventral thalamus	UBERON:0001897	87.91	gold quality
right atrium auricular region	UBERON:0006631	87.70	gold quality
cardiac atrium	UBERON:0002081	87.65	gold quality
cerebellar vermis	UBERON:0004720	87.61	silver quality
medulla oblongata	UBERON:0001896	87.07	gold quality
lymph node	UBERON:0000029	87.04	gold quality
lateral globus pallidus	UBERON:0002476	86.96	silver quality
endothelial cell	CL:0000115	86.72	gold quality
hypothalamus	UBERON:0001898	86.34	gold quality
putamen	UBERON:0001874	86.07	gold quality
substantia nigra pars compacta	UBERON:0001965	85.98	silver quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	6030.96
E-GEOD-84465	yes	721.31
E-GEOD-76312	yes	32.90
E-ANND-3	yes	24.67
E-MTAB-6678	yes	8.44
E-CURD-112	yes	7.44
E-MTAB-6386	no	302.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting SNX22, 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-4481	100.00	66.42	1669
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-3136-3P	99.57	66.59	781
HSA-MIR-7155-3P	99.57	66.48	794
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-1276	99.36	68.18	1642
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	snx22	ENSDARG00000053204
mus_musculus	Snx22	ENSMUSG00000039452
rattus_norvegicus	Snx22	ENSRNOG00000022852

Paralogs (1): SNX24 (ENSG00000064652)

Protein

Protein identifiers

Sorting nexin-22 — Q96L94 (reviewed: Q96L94)

All UniProt accessions (1): Q96L94

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in several stages of intracellular trafficking. Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).

Subunit / interactions. (Microbial infection) Interacts with P.falciparum (strain 3D7) CK1.

Subcellular location. Cytoplasmic vesicle membrane.

Tissue specificity. Expressed in erythrocytes (at protein level).

Domain organisation. The PX domain mediates specific binding to membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(P3)).

Similarity. Belongs to the sorting nexin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96L94-1	1	yes
Q96L94-2	2

RefSeq proteins (1): NP_079074* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001683	PX_dom	Domain
IPR036871	PX_dom_sf	Homologous_superfamily
IPR052467	Sorting_nexin_PX-domain	Family

Pfam: PF00787

UniProt features (17 total): strand 5, binding site 4, helix 3, chain 1, domain 1, region of interest 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2ETT	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96L94-F1	72.69	0.30

Functional residue map

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

Ligand- & substrate-binding residues (4): 43; 45; 66; 79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): WANG_LMO4_TARGETS_DN, IRF_Q6, RYTTCCTG_ETS2_B, ATCTTGC_MIR31, GOMF_PHOSPHATIDYLINOSITOL_PHOSPHATE_BINDING, GOMF_PHOSPHATIDYLINOSITOL_BINDING, GOMF_LIPID_BINDING, GOMF_PHOSPHOLIPID_BINDING, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_DN, MARTENS_TRETINOIN_RESPONSE_DN, STAMBOLSKY_TARGETS_OF_MUTATED_TP53_UP, chr15q22

GO Biological Process (1): protein transport (GO:0015031)

GO Molecular Function (4): phosphatidylinositol phosphate binding (GO:1901981), protein binding (GO:0005515), lipid binding (GO:0008289), phosphatidylinositol binding (GO:0035091)

GO Cellular Component (3): cytoplasmic vesicle membrane (GO:0030659), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
transport	1
intracellular protein localization	1
establishment of protein localization	1
phospholipid binding	1
anion binding	1
vesicle membrane	1
cytoplasmic vesicle	1
cellular anatomical structure	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

396 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SNX22	SNX11	Q9Y5W9	614
SNX22	SNX12	Q9UMY4	603
SNX22	WDFY4	Q6ZS81	544
SNX22	CLNK	Q7Z7G1	523
SNX22	SNX3	O60493	515
SNX22	GCSAM	Q8N6F7	496
SNX22	CYB561D1	Q8N8Q1	496
SNX22	NUDT17	P0C025	487
SNX22	SNX10	Q9Y5X0	481
SNX22	ZBTB46	Q86UZ6	476
SNX22	SNX21	Q969T3	472
SNX22	RAB7B	Q96AH8	466
SNX22	SNX7	Q9UNH6	450
SNX22	LMNTD2	Q8IXW0	450
SNX22	GAPVD1	Q14C86	436
SNX22	MPPE1	Q53F39	436

IntAct

13 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
SPATA46	MDM4	psi-mi:“MI:0914”(association)	0.530
CSNK1E	ZSWIM8	psi-mi:“MI:0914”(association)	0.530
Dlg4	SNX22	psi-mi:“MI:0407”(direct interaction)	0.440
SNX22	B3GALT2	psi-mi:“MI:0915”(physical association)	0.370
DVL3	SNX22	psi-mi:“MI:0915”(physical association)	0.370
FGFR2	U2SURP	psi-mi:“MI:0914”(association)	0.350
SNX24	STRN	psi-mi:“MI:0914”(association)	0.350
CSNK1D	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SNX24	GAPVD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): SNX22 (Two-hybrid), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-RNA), DVL3 (Two-hybrid), SNX22 (Affinity Capture-RNA), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS), SNX22 (Two-hybrid), SNX22 (Affinity Capture-MS), SNX22 (Affinity Capture-MS)

ESM2 similar proteins: A1L3T7, B1WBS3, F1MUS9, F1Q506, O14559, O43918, O70146, O95238, P57059, P59729, Q08DD7, Q15569, Q18PE1, Q32PJ7, Q3TES0, Q3UJD6, Q4V896, Q5DTT2, Q5PQS0, Q5RA67, Q5XIS1, Q60700, Q63572, Q6J1Y9, Q6P720, Q6VYH9, Q7TSI1, Q80YF9, Q811H0, Q8BLR5, Q8BZN4, Q8BZW2, Q8C0J6, Q8CFK6, Q8JZW5, Q8K330, Q8NDX1, Q8R2S1, Q8TB24, Q8TE77

Diamond homologs: Q17QS1, Q4G017, Q5U2S5, Q80TM9, Q96L94, Q9CRB0, Q9Y2I1, Q9Y343, Q2T9W1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	25
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1393219	NM_000942.5(PPIB):c.509G>A (p.Gly170Asp)	Pathogenic
16925	NM_000942.5(PPIB):c.556_559del (p.Lys186fs)	Pathogenic
16926	NM_000942.5(PPIB):c.451C>T (p.Gln151Ter)	Pathogenic
41422	NM_000942.5(PPIB):c.563_566del (p.Asp188fs)	Pathogenic
1698658	NM_000942.5(PPIB):c.528+1G>C	Likely pathogenic

SpliceAI

974 predictions. Top by Δscore:

Variant	Effect	Δscore
15:64152742:GGTA:G	donor_loss	1.0000
15:64152743:GTAT:G	donor_loss	1.0000
15:64153242:CAGG:C	acceptor_loss	1.0000
15:64153243:A:AG	acceptor_gain	1.0000
15:64153243:AG:A	acceptor_gain	1.0000
15:64153243:AGG:A	acceptor_gain	1.0000
15:64153244:G:GG	acceptor_gain	1.0000
15:64153244:GG:G	acceptor_gain	1.0000
15:64153244:GGG:G	acceptor_gain	1.0000
15:64153244:GGGC:G	acceptor_gain	1.0000
15:64153336:GGGG:G	donor_gain	1.0000
15:64153337:GGG:G	donor_gain	1.0000
15:64153337:GGGG:G	donor_gain	1.0000
15:64153338:GGG:G	donor_gain	1.0000
15:64156141:ACCTC:A	acceptor_gain	1.0000
15:64156142:CCTCC:C	acceptor_gain	1.0000
15:64156143:CTC:C	acceptor_gain	1.0000
15:64156146:CTGGA:C	acceptor_loss	1.0000
15:64156147:T:C	acceptor_loss	1.0000
15:64156719:ACT:A	donor_loss	1.0000
15:64156721:T:TA	donor_loss	1.0000
15:64156722:C:CC	donor_loss	1.0000
15:64156723:A:T	donor_loss	1.0000
15:64156724:CCATG:C	donor_gain	1.0000
15:64156751:C:CT	donor_gain	1.0000
15:64156905:CTTTC:C	acceptor_gain	1.0000
15:64156906:TTTC:T	acceptor_gain	1.0000
15:64156908:TC:T	acceptor_gain	1.0000
15:64156909:CC:C	acceptor_gain	1.0000
15:64156910:C:CC	acceptor_gain	1.0000

AlphaMissense

1259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:64152307:T:C	F47S	0.999
15:64152726:T:C	L83S	0.998
15:64153290:T:C	F104L	0.998
15:64153292:C:A	F104L	0.998
15:64153292:C:G	F104L	0.998
15:64152246:T:C	F27L	0.997
15:64152248:C:A	F27L	0.997
15:64152248:C:G	F27L	0.997
15:64152306:T:C	F47L	0.996
15:64152308:C:A	F47L	0.996
15:64152308:C:G	F47L	0.996
15:64152666:T:C	F63S	0.996
15:64153291:T:C	F104S	0.996
15:64152676:A:C	K66N	0.994
15:64152676:A:T	K66N	0.994
15:64152717:G:C	R80P	0.993
15:64152734:T:G	Y86D	0.993
15:64152247:T:C	F27S	0.992
15:64152307:T:G	F47C	0.992
15:64152316:T:C	L50P	0.992
15:64152643:G:C	K55N	0.992
15:64152643:G:T	K55N	0.992
15:64152675:A:T	K66I	0.992
15:64152713:C:A	R79S	0.992
15:64151792:T:C	I6T	0.990
15:64152294:C:A	R43S	0.990
15:64152674:A:G	K66E	0.990
15:64152666:T:G	F63C	0.989
15:64152668:C:T	P64S	0.989
15:64152669:C:A	P64H	0.989

dbSNP variants (sampled 300 via entrez): RS1000048716 (15:64155205 C>T), RS1001561994 (15:64152870 C>G,T), RS1002062138 (15:64150352 G>C,T), RS1002123239 (15:64155739 A>C), RS1002335645 (15:64157340 A>G), RS1002661333 (15:64151490 C>G), RS1003016476 (15:64151619 G>A,T), RS1003018839 (15:64151653 C>A,G), RS1003047603 (15:64151814 C>G), RS1003533452 (15:64157115 G>A), RS1004141774 (15:64154900 T>C), RS1004206724 (15:64156984 G>A,C), RS1004345156 (15:64151702 C>A,G,T), RS1004894076 (15:64157380 A>G), RS1005144213 (15:64156019 T>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:166200, MIM:259440

GenCC curated gene-disease

Mondo (2): osteogenesis imperfecta (MONDO:0019019), osteogenesis imperfecta type 9 (MONDO:0009805)

Orphanet (1): Osteogenesis imperfecta (Orphanet:666)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010243_248	Apolipoprotein B levels	1.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004615	apolipoprotein B measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D010013	Osteogenesis Imperfecta	C05.116.099.708.685; C16.320.737; C17.300.200.540
C564921	Osteogenesis Imperfecta, Type IX (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Smoke	decreases expression, decreases reaction	2
propionaldehyde	increases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
nutlin 3	affects cotreatment, increases expression	1
abrine	decreases expression	1
Decitabine	decreases expression, decreases reaction	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Camptothecin	increases expression	1
Cisplatin	increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	affects expression	1
Okadaic Acid	increases expression	1
Particulate Matter	decreases expression, increases abundance	1
Magnetite Nanoparticles	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
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
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)
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
NCT05125809	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Setrusumab vs Placebo for Osteogenesis Imperfecta
NCT03706482	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Boost Brittle Bones Before Birth
NCT04623606	PHASE1/PHASE2	UNKNOWN	Boost to Brittle Bones - Stem Cell Transplantation for Treatment of Brittle Bones
NCT05559801	PHASE1/PHASE2	NOT_YET_RECRUITING	Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI)
NCT00001594	Not specified	COMPLETED	Evaluation and Intervention for the Effects of Osteogenesis Imperfecta
NCT00076830	Not specified	COMPLETED	Evaluation and Treatment of Patients With Connective Tissue Disease
NCT00187018	Not specified	COMPLETED	Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study
NCT00655681	Not specified	COMPLETED	Prevention of Post Operative Bone Loss in Children