AFAP1L1

Summary

AFAP1L1 (actin filament associated protein 1 like 1, HGNC:26714) is a protein-coding gene on chromosome 5q32, encoding Actin filament-associated protein 1-like 1 (Q8TED9). May be involved in podosome and invadosome formation.

Predicted to be located in several cellular components, including actin cytoskeleton; anchoring junction; and cell projection. Predicted to be active in cytosol.

Source: NCBI Gene 134265 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 143 total
• MANE Select transcript: NM_152406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26714
Approved symbol	AFAP1L1
Name	actin filament associated protein 1 like 1
Location	5q32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36748
Ensembl gene	ENSG00000157510
Ensembl biotype	protein_coding
OMIM	614410
Entrez	134265

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000296721, ENST00000455574, ENST00000508444, ENST00000513665, ENST00000515000, ENST00000522492, ENST00000897012, ENST00000897013, ENST00000951980, ENST00000951981, ENST00000951982, ENST00000951983, ENST00000951984, ENST00000951985

RefSeq mRNA: 4 — MANE Select: NM_152406 NM_001146337, NM_001323062, NM_001323063, NM_152406

CCDS: CCDS34274, CCDS54932

Canonical transcript exons

ENST00000296721 — 19 exons

Exon	Start	End
ENSE00001032994	149312112	149312204
ENSE00001125148	149315821	149315914
ENSE00003463360	149309956	149310135
ENSE00003466509	149316151	149316303
ENSE00003489411	149307402	149307613
ENSE00003495128	149332695	149332873
ENSE00003586444	149340007	149343637
ENSE00003587746	149271859	149271984
ENSE00003603437	149299509	149299637
ENSE00003604233	149322606	149322717
ENSE00003615254	149329666	149329830
ENSE00003616195	149302418	149302526
ENSE00003622707	149300271	149300354
ENSE00003651442	149319582	149319727
ENSE00003651805	149306306	149306404
ENSE00003653711	149335594	149335722
ENSE00003654458	149301133	149301230
ENSE00003654815	149320391	149320463
ENSE00003691839	149317729	149317940

Expression profiles

Bgee: expression breadth ubiquitous, 205 present calls, max score 93.28.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2754 / max 431.3137, expressed in 1281 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
59354	11.8307	1278
59355	0.4134	207
59353	0.0314	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	93.28	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.36	gold quality
heart left ventricle	UBERON:0002084	91.87	gold quality
sural nerve	UBERON:0015488	91.87	gold quality
right atrium auricular region	UBERON:0006631	91.82	gold quality
cardiac ventricle	UBERON:0002082	91.59	gold quality
cardiac atrium	UBERON:0002081	91.50	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.03	gold quality
omental fat pad	UBERON:0010414	90.71	gold quality
peritoneum	UBERON:0002358	90.63	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.43	gold quality
tibial nerve	UBERON:0001323	90.41	gold quality
tibialis anterior	UBERON:0001385	90.14	gold quality
gastrocnemius	UBERON:0001388	89.98	gold quality
heart	UBERON:0000948	89.96	gold quality
muscle of leg	UBERON:0001383	89.94	gold quality
adipose tissue	UBERON:0001013	89.39	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.21	gold quality
skeletal muscle organ	UBERON:0014892	89.00	gold quality
left ventricle myocardium	UBERON:0006566	88.71	gold quality
deltoid	UBERON:0001476	88.63	gold quality
right lung	UBERON:0002167	87.99	gold quality
upper lobe of left lung	UBERON:0008952	87.92	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.48	gold quality
skeletal muscle tissue	UBERON:0001134	87.07	gold quality
upper lobe of lung	UBERON:0008948	86.93	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.89	gold quality
muscle tissue	UBERON:0002385	86.45	gold quality
left uterine tube	UBERON:0001303	86.13	gold quality
biceps brachii	UBERON:0001507	85.34	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	30.72
E-MTAB-8271	yes	17.82
E-ANND-3	yes	8.32
E-MTAB-6058	no	53.89

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP3

miRNA regulators (miRDB)

131 targeting AFAP1L1, 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-4533	100.00	69.48	2758
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4697-3P	99.89	67.09	1123
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-605-3P	99.88	69.22	1833
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-130B-5P	99.83	68.50	1888

Literature-anchored findings (GeneRIF, showing 8)

• Data suggest that AFAP1L1 may forge unique protein interactions in which AFAP1 is less efficient, and these interactions may allow AFAP1L1 to affect invadosome formation. (PMID:21333378)
• AFAP1L1 has a role in the progression of spindle cell sarcomas and is a prognostic biomarker. (PMID:21516130)
• Findings indicate a role for transcription factor Sp3 in sarcomas as a driver for expression of the metastasis-related gene AFAP1L1 (actin filament-associated protein 1-like 1). (PMID:23326307)
• AFAP1L1 plays a role in the progression of colorectal cancer by modulating cell shape and motility and by inhibiting anoikis, presumably through interactions with vinculin-including protein complexes. (PMID:24723436)
• data define a novel pathway that directs Lyn/Src family tyrosine kinase signals to sarcoma cell invadopodia through specific recruitment of Vav2 and Nck2 to phosphorylated AFAP1L1, to control cell migration and invasion (PMID:26212012)
• AFAP1L1 promotes cell proliferation, accelerates cell cycle progression, and prevents cell apoptosis in lung cancer cells. (PMID:29323101)
• AFAP1L1 promotes gastric cancer progression by interacting with VAV2 to facilitate CDC42-mediated activation of ITGA5 signaling pathway. (PMID:36631800)
• Hypoxia-induced AFAP1L1 regulates pathological neovascularization via the YAP-DLL4-NOTCH axis. (PMID:37737201)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	afap1l1b	ENSDARG00000056453
danio_rerio	afap1l1a	ENSDARG00000089162
mus_musculus	Afap1l1	ENSMUSG00000033032
rattus_norvegicus	Afap1l1	ENSRNOG00000019403

Paralogs (2): AFAP1L2 (ENSG00000169129), AFAP1 (ENSG00000196526)

Protein

Protein identifiers

Actin filament-associated protein 1-like 1 — Q8TED9 (reviewed: Q8TED9)

All UniProt accessions (1): Q8TED9

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in podosome and invadosome formation.

Subunit / interactions. Interacts with CTTN.

Subcellular location. Cytoplasm. Cell projection. Podosome. Invadopodium. Cytoskeleton. Stress fiber.

Tissue specificity. Expressed in breast, colon and brain. In all 3 tissues, expressed in the microvasculature (at protein level). In addition, in the breast, found in the contractile myoepithelial cell layer which surrounds the breast ducts (at protein level). In the colon, expressed in the mucous membrane and colonic crypts and in the smooth muscle cell layer which provide movement of the colon (at protein level). In the cerebellum, localized around the Purkinje neurons and the granule cells of the granular layer, but not inside cell bodies (at protein level). Outside of the cerebellar cortex, expressed in glial cells (at protein level). Highly expressed away from the cell bodies within the dentate nucleus (at protein level).

Isoforms (4)

UniProt ID	Names	Canonical?
Q8TED9-1	1	yes
Q8TED9-2	2
Q8TED9-3	3
Q8TED9-4	4

RefSeq proteins (3): NP_001139809, NP_001309991, NP_689619* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR030113	AFAP	Family

Pfam: PF00169

UniProt features (27 total): modified residue 8, compositionally biased region 4, splice variant 4, region of interest 4, sequence conflict 3, domain 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TED9-F1	64.40	0.29

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 (8): 94, 98, 104, 153, 329, 343, 557, 747

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 74 (showing top): LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, BASAKI_YBX1_TARGETS_UP, chr5q32, GOCC_ACTIN_FILAMENT_BUNDLE, GOCC_ACTOMYOSIN, SANSOM_APC_TARGETS, GOCC_PODOSOME, GEORGES_TARGETS_OF_MIR192_AND_MIR215, RAY_TUMORIGENESIS_BY_ERBB2_CDC25A_DN, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, CHYLA_CBFA2T3_TARGETS_UP, PEDRIOLI_MIR31_TARGETS_DN

GO Biological Process (0):

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

GO Cellular Component (7): stress fiber (GO:0001725), podosome (GO:0002102), cytosol (GO:0005829), cell projection (GO:0042995), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), anchoring junction (GO:0070161)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
actomyosin	1
contractile actin filament bundle	1
actin-based cell projection	1
cytoplasm	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
cell junction	1

Protein interactions and networks

STRING

434 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AFAP1L1	GRPEL2	Q8TAA5	575
AFAP1L1	HCLS1	P14317	555
AFAP1L1	CTTN	Q14247	552
AFAP1L1	ABLIM3	O94929	502
AFAP1L1	SYT10	Q6XYQ8	471
AFAP1L1	RCBTB2	O95199	463
AFAP1L1	TDRD5	Q8NAT2	463
AFAP1L1	VPS53	Q5VIR6	460
AFAP1L1	PCYOX1L	Q8NBM8	457
AFAP1L1	RPH3AL	Q9UNE2	457
AFAP1L1	GEMIN4	P57678	442
AFAP1L1	OR2D3	Q8NGH3	431
AFAP1L1	CNTN6	Q9UQ52	421
AFAP1L1	GLB1L2	Q8IW92	411
AFAP1L1	NSA2	O95478	401

IntAct

19 interactions, top by confidence:

A	B	Type	Score
GADD45G	AFAP1L1	psi-mi:“MI:0915”(physical association)	0.780
AFAP1L1	GADD45G	psi-mi:“MI:0915”(physical association)	0.780
AFAP1L1	PPIB	psi-mi:“MI:0915”(physical association)	0.400
CTBP1	TAF15	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSD17B1	RAD21	psi-mi:“MI:0914”(association)	0.350
AFAP1L1	KDM4A	psi-mi:“MI:0914”(association)	0.350
AFAP1L1	DDX3Y	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
	AFAP1L1	psi-mi:“MI:0915”(physical association)	0.000
TRIP6	AFAP1L1	psi-mi:“MI:0915”(physical association)	0.000
GADD45G	AFAP1L1	psi-mi:“MI:0915”(physical association)	0.000
AFAP1L1	ezrA	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): AFAP1L1 (Two-hybrid), AFAP1L1 (Affinity Capture-RNA), AFAP1L1 (Affinity Capture-MS), AFAP1L1 (Affinity Capture-RNA), AFAP1L1 (Two-hybrid), AFAP1L1 (Proximity Label-MS), DECR1 (Affinity Capture-MS), KDM4A (Affinity Capture-MS), AFAP1L1 (Affinity Capture-MS), KLHDC2 (Affinity Capture-MS), YWHAG (Affinity Capture-MS), YWHAE (Affinity Capture-MS), KLHL42 (Affinity Capture-MS), FEM1B (Affinity Capture-MS), YWHAB (Affinity Capture-MS)

ESM2 similar proteins: A0JN71, A4IFK0, A5PMU4, A6QQV9, O15034, O15040, O62666, O62674, O62675, O62676, O62677, O62678, O75995, P49796, P52734, P59672, P78314, P97432, P98174, Q06649, Q0V8R5, Q13905, Q14596, Q3U0J8, Q501R9, Q53GL0, Q5BJM5, Q5F3C8, Q5RC94, Q5SUE8, Q6AI12, Q6ZMT1, Q7Z5H3, Q80U40, Q80UZ0, Q80XA6, Q80YS6, Q8BL80, Q8K352, Q8N556

Diamond homologs: A6QQV9, D4AB98, F7EL49, Q17R10, Q4V8Y7, Q5DTU0, Q6PF55, Q80YS6, Q8BZI0, Q8N4X5, Q8N556, Q8TED9, Q8VH46, Q90738

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	129
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2968 predictions. Top by Δscore:

Variant	Effect	Δscore
5:149271983:GG:G	donor_gain	1.0000
5:149271984:GG:G	donor_gain	1.0000
5:149299504:CGCA:C	acceptor_loss	1.0000
5:149299505:GCA:G	acceptor_loss	1.0000
5:149299506:CA:C	acceptor_loss	1.0000
5:149299507:A:AG	acceptor_gain	1.0000
5:149299507:AGT:A	acceptor_gain	1.0000
5:149299508:G:GA	acceptor_gain	1.0000
5:149299508:GT:G	acceptor_gain	1.0000
5:149299508:GTG:G	acceptor_gain	1.0000
5:149299508:GTGC:G	acceptor_gain	1.0000
5:149299508:GTGCT:G	acceptor_gain	1.0000
5:149299634:CCAGG:C	donor_loss	1.0000
5:149299637:GG:G	donor_loss	1.0000
5:149299638:G:C	donor_loss	1.0000
5:149299639:T:A	donor_loss	1.0000
5:149300267:A:AG	acceptor_gain	1.0000
5:149300268:C:G	acceptor_gain	1.0000
5:149300269:A:AG	acceptor_gain	1.0000
5:149300269:A:C	acceptor_loss	1.0000
5:149300270:G:GC	acceptor_gain	1.0000
5:149300270:GC:G	acceptor_gain	1.0000
5:149300270:GCA:G	acceptor_gain	1.0000
5:149300270:GCAA:G	acceptor_gain	1.0000
5:149300270:GCAAA:G	acceptor_gain	1.0000
5:149300350:ATTTG:A	donor_gain	1.0000
5:149300351:TTTG:T	donor_gain	1.0000
5:149300352:TTG:T	donor_gain	1.0000
5:149300352:TTGGT:T	donor_loss	1.0000
5:149300353:TG:T	donor_gain	1.0000

AlphaMissense

5013 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:149310127:T:A	W307R	0.999
5:149310127:T:C	W307R	0.999
5:149307422:A:C	S186R	0.998
5:149307424:C:A	S186R	0.998
5:149307424:C:G	S186R	0.998
5:149307425:A:C	S187R	0.998
5:149307427:C:A	S187R	0.998
5:149307427:C:G	S187R	0.998
5:149307542:T:C	F226L	0.998
5:149307544:C:A	F226L	0.998
5:149307544:C:G	F226L	0.998
5:149307572:T:A	W236R	0.998
5:149307572:T:C	W236R	0.998
5:149307574:G:C	W236C	0.998
5:149307574:G:T	W236C	0.998
5:149309959:T:G	Y251D	0.998
5:149310059:T:C	L284P	0.998
5:149319609:T:A	W503R	0.998
5:149319609:T:C	W503R	0.998
5:149307555:A:T	K230I	0.997
5:149340012:G:C	W763C	0.997
5:149340012:G:T	W763C	0.997
5:149299533:T:C	L14P	0.996
5:149307546:T:C	L227P	0.996
5:149307567:G:A	G234E	0.996
5:149307609:T:C	L248P	0.996
5:149310129:G:C	W307C	0.996
5:149310129:G:T	W307C	0.996
5:149307431:T:C	Y189H	0.995
5:149307556:A:C	K230N	0.995

dbSNP variants (sampled 300 via entrez): RS1000017539 (5:149298840 A>G), RS1000027254 (5:149319677 G>A), RS1000047758 (5:149323695 G>A), RS1000085958 (5:149277984 C>T), RS1000095430 (5:149331352 G>A), RS1000141045 (5:149319435 G>A), RS1000159279 (5:149295235 T>C), RS1000204907 (5:149274368 C>G,T), RS1000347976 (5:149310472 A>G), RS1000371470 (5:149307233 C>A,T), RS1000398399 (5:149300805 G>A), RS1000420663 (5:149307493 C>T), RS1000434 (5:149285090 G>A), RS1000434812 (5:149278327 C>G,T), RS1000469287 (5:149282825 G>A,C)

Disease associations

OMIM: gene MIM:614410 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neuromuscular disease (MONDO:0019056)

Orphanet (1): Neuromuscular disease (Orphanet:68381)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_729	Obesity-related traits	9.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003939	energy intake

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1438692	AFAP1L1		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	9
bisphenol A	decreases expression, increases expression, decreases reaction, increases abundance	2
trichostatin A	increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	decreases methylation, increases expression, increases methylation	2
FR900359	affects phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
ginger extract	decreases expression, decreases reaction, increases abundance	1
pirinixic acid	increases activity, increases expression, affects binding	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	decreases methylation, increases methylation	1
pentanal	increases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	increases expression	1
Diethylhexyl Phthalate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580	PHASE2	RECRUITING	Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935	PHASE2	NOT_YET_RECRUITING	A Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252	PHASE1	COMPLETED	AutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741	PHASE1	UNKNOWN	Telemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984	PHASE1	COMPLETED	Therapeutic Riding and Neuromuscular Disease
NCT01758510	PHASE1	COMPLETED	Safety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034	PHASE1	COMPLETED	Study of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842	PHASE1	COMPLETED	Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802	PHASE2/PHASE3	UNKNOWN	Treatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951	PHASE1/PHASE2	COMPLETED	P300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425	PHASE1/PHASE2	COMPLETED	Antioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201	Not specified	COMPLETED	Evaluation of Neuromuscular Disease
NCT00002044	Not specified	COMPLETED	A Pilot Study To Evaluate the Effect of Retrovir (Zidovudine: AZT) in the Treatment of Human Immunodeficiency Virus (HIV) Associated Dementia and Neuromuscular Diseases
NCT00004553	Not specified	COMPLETED	Electromyography to Diagnose Neuromuscular Disorders
NCT00015470	Not specified	COMPLETED	Diagnostic Evaluation of Patients With Neuromuscular Disease
NCT00017745	Not specified	COMPLETED	Phenotype/Genotype Correlations in Neuromuscular Disorders
NCT00695591	Not specified	COMPLETED	Home Sleep Testing in Neuromuscular Disease Patients