TMEM106A

gene
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Also known as MGC20235

Summary

TMEM106A (transmembrane protein 106A, HGNC:28288) is a protein-coding gene on chromosome 17q21.31, encoding Transmembrane protein 106A (Q96A25). Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway.

Predicted to be involved in several processes, including positive regulation of intracellular signal transduction; positive regulation of macromolecule biosynthetic process; and positive regulation of nitric oxide metabolic process. Predicted to be located in plasma membrane.

Source: NCBI Gene 113277 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 45 total — 1 pathogenic
  • MANE Select transcript: NM_145041

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:28288
Approved symbolTMEM106A
Nametransmembrane protein 106A
Location17q21.31
Locus typegene with protein product
StatusApproved
AliasesMGC20235
Ensembl geneENSG00000184988
Ensembl biotypeprotein_coding
Entrez113277

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000536052, ENST00000541594, ENST00000586685, ENST00000588659, ENST00000588693, ENST00000592564, ENST00000592649, ENST00000612339, ENST00000876775, ENST00000876776, ENST00000876777, ENST00000876778, ENST00000959741, ENST00000959742, ENST00000959743

RefSeq mRNA: 4 — MANE Select: NM_145041 NM_001291586, NM_001291587, NM_001291588, NM_145041

CCDS: CCDS11462, CCDS74073, CCDS77039

Canonical transcript exons

ENST00000612339 — 9 exons

ExonStartEnd
ENSE000016093294321187543211922
ENSE000016277924321644943216589
ENSE000016732234321222743212394
ENSE000017534774321725943217312
ENSE000017773914321669743216740
ENSE000035237984321578843215941
ENSE000036163294321302143213252
ENSE000036223934321382843213891
ENSE000037411624321768143220041

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 93.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.0225 / max 368.5293, expressed in 1604 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
16106511.90881602
1610660.113638

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
buccal mucosa cellCL:000233693.54gold quality
renal medullaUBERON:000036289.74gold quality
pylorusUBERON:000116687.85gold quality
layer of synovial tissueUBERON:000761687.42gold quality
monocyteCL:000057684.46gold quality
tibiaUBERON:000097984.22gold quality
leukocyteCL:000073884.14gold quality
bone marrow cellCL:000209282.98gold quality
kidneyUBERON:000211382.66gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099182.23gold quality
vermiform appendixUBERON:000115482.14gold quality
parietal pleuraUBERON:000240082.12gold quality
adult mammalian kidneyUBERON:000008281.99gold quality
tracheaUBERON:000312681.87gold quality
adult organismUBERON:000702381.83gold quality
thymusUBERON:000237081.52gold quality
visceral pleuraUBERON:000240181.38gold quality
smooth muscle tissueUBERON:000113581.14gold quality
granulocyteCL:000009480.90gold quality
caecumUBERON:000115380.64gold quality
cortex of kidneyUBERON:000122580.47gold quality
bloodUBERON:000017880.16gold quality
dorsal root ganglionUBERON:000004479.81gold quality
trigeminal ganglionUBERON:000167579.75gold quality
amniotic fluidUBERON:000017379.69gold quality
superior surface of tongueUBERON:000737179.67gold quality
sural nerveUBERON:001548879.59gold quality
synovial jointUBERON:000221779.55gold quality
pericardiumUBERON:000240779.54gold quality
lymph nodeUBERON:000002979.34gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes10.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting TMEM106A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6867-5P100.0082.213464
HSA-MIR-3120-5P100.0065.56965
HSA-MIR-4455100.0065.481587
HSA-MIR-574-5P100.0066.01989
HSA-MIR-6758-5P100.0066.211470
HSA-MIR-6856-5P100.0065.471298
HSA-MIR-453499.9966.581907
HSA-MIR-3667-3P99.9967.171636
HSA-MIR-6888-3P99.9765.951170
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-4666A-3P99.9671.713434
HSA-MIR-808299.9567.271170
HSA-MIR-338-5P99.9272.342951
HSA-MIR-6780A-5P99.8866.692776
HSA-MIR-4728-5P99.8569.394718
HSA-MIR-6785-5P99.8268.684428
HSA-MIR-1273H-5P99.7766.322471
HSA-MIR-465899.7764.94514
HSA-MIR-6790-5P99.7765.24505
HSA-MIR-3934-3P99.7665.511351
HSA-MIR-197699.7465.481127
HSA-MIR-149-3P99.7268.223963
HSA-MIR-4524A-3P99.7266.852406
HSA-MIR-30B-3P99.7065.762325
HSA-MIR-3689A-3P99.7065.732306
HSA-MIR-3689B-3P99.7065.712311
HSA-MIR-3689C99.7065.712311
HSA-MIR-6779-5P99.7065.762363
HSA-MIR-6883-5P99.6968.053785
HSA-MIR-548AV-5P99.6070.842107

Literature-anchored findings (GeneRIF, showing 1)

  • Low TMEM106A expression is associated with gastric cancer. (PMID:24975047)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusTmem106aENSMUSG00000034947
rattus_norvegicusTmem106aENSRNOG00000023628

Protein

Protein identifiers

Transmembrane protein 106AQ96A25 (reviewed: Q96A25)

All UniProt accessions (3): Q96A25, B7Z779, K7ERE2

UniProt curated annotations — full annotation on UniProt →

Function. Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, up-regulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro-inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide. May play a role in inhibition of proliferation and migration.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in renal cells (at protein level). Expressed in epithelial cells.

Similarity. Belongs to the TMEM106 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q96A25-11yes
Q96A25-22

RefSeq proteins (4): NP_001278515, NP_001278516, NP_001278517, NP_659478* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR009790TMEM106Family
IPR048509TMEM106_CDomain
IPR048511TMEM106_NDomain

Pfam: PF07092, PF21002

UniProt features (3 total): chain 1, transmembrane region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96A25-F176.100.50

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 134 (showing top): GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_INTERLEUKIN_1_PRODUCTION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GCM_MYCL1, GOBP_POSITIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION, GCM_PRKCG, GCM_RING1, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GCM_DPF2, GOBP_CYTOKINE_PRODUCTION, GOBP_POSITIVE_REGULATION_OF_INTERLEUKIN_1_PRODUCTION

GO Biological Process (11): glycoprotein biosynthetic process (GO:0009101), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), macrophage activation (GO:0042116), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), positive regulation of MAPK cascade (GO:0043410), innate immune response (GO:0045087), positive regulation of MHC class II biosynthetic process (GO:0045348), obsolete positive regulation of nitric oxide metabolic process (GO:1904407), immune system process (GO:0002376)

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

GO Cellular Component (3): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of intracellular signal transduction2
cellular anatomical structure2
macromolecule biosynthetic process1
glycoprotein metabolic process1
carbohydrate derivative biosynthetic process1
interleukin-1 beta production1
regulation of interleukin-1 beta production1
positive regulation of interleukin-1 production1
positive regulation of cytokine production1
interleukin-6 production1
regulation of interleukin-6 production1
tumor necrosis factor production1
regulation of tumor necrosis factor production1
positive regulation of tumor necrosis factor superfamily cytokine production1
myeloid leukocyte activation1
canonical NF-kappaB signal transduction1
regulation of canonical NF-kappaB signal transduction1
MAPK cascade1
regulation of MAPK cascade1
immune response1
defense response to symbiont1
positive regulation of macromolecule biosynthetic process1
MHC class II biosynthetic process1
regulation of MHC class II biosynthetic process1
biological_process1
binding1
membrane1
cell periphery1
vacuole1
plasma membrane1

Protein interactions and networks

STRING

492 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TMEM106ATAF11L5A0A1W2PP81644
TMEM106ATAF11L4A0A1W2PPE2644
TMEM106ATAF11L3A0A1W2PRV1644
TMEM106ATAF11L2A6NLC8572
TMEM106AA0A1W2PRN6A0A1W2PRN6541
TMEM106AFAM81BQ96LP2443
TMEM106ABST2Q10589410
TMEM106AKREMEN1Q96MU8408
TMEM106AFAM110BQ8TC76403
TMEM106ACLLU1-AS1Q5K130399
TMEM106AENKURQ8TC29362
TMEM106ATMEM209Q96SK2359
TMEM106ATMEM229AB2RXF0358
TMEM106ASLFN5Q08AF3355
TMEM106AFAM156AQ8NDB6348

IntAct

39 interactions, top by confidence:

ABTypeScore
TMEM106ATMEM106Cpsi-mi:“MI:0915”(physical association)0.670
GOSR2TMEM106Apsi-mi:“MI:0915”(physical association)0.560
TMEM106ATNMDpsi-mi:“MI:0915”(physical association)0.560
IGFBP5TMEM106Apsi-mi:“MI:0915”(physical association)0.560
GJB2TMEM106Apsi-mi:“MI:0915”(physical association)0.560
TMEM128TMEM106Apsi-mi:“MI:0915”(physical association)0.560
ENTPD3TMEM106Apsi-mi:“MI:0915”(physical association)0.560
TMEM86BTMEM106Apsi-mi:“MI:0915”(physical association)0.560
TMEM106AERG28psi-mi:“MI:0915”(physical association)0.560
TMEM107TMEM106Apsi-mi:“MI:0915”(physical association)0.560
TSPAN4TMEM106Apsi-mi:“MI:0915”(physical association)0.560
TMEM106AB4GALT3psi-mi:“MI:0914”(association)0.530
TMEM106AARF1psi-mi:“MI:0915”(physical association)0.370
TMEM106AQSOX1psi-mi:“MI:0914”(association)0.350
TMEM106ARTL8Cpsi-mi:“MI:0914”(association)0.350
TMEM106ATMEM131Lpsi-mi:“MI:0914”(association)0.350
GOSR2TMEM106Apsi-mi:“MI:0915”(physical association)0.000
TNMDTMEM106Apsi-mi:“MI:0915”(physical association)0.000
IGFBP5TMEM106Apsi-mi:“MI:0915”(physical association)0.000
GJB2TMEM106Apsi-mi:“MI:0915”(physical association)0.000
TSPAN4TMEM106Apsi-mi:“MI:0915”(physical association)0.000
TMEM106ATMEM106Cpsi-mi:“MI:0915”(physical association)0.000
TMEM128TMEM106Apsi-mi:“MI:0915”(physical association)0.000
ENTPD3TMEM106Apsi-mi:“MI:0915”(physical association)0.000
TMEM86BTMEM106Apsi-mi:“MI:0915”(physical association)0.000
ERG28TMEM106Apsi-mi:“MI:0915”(physical association)0.000

BioGRID (215): TMEM106A (Reconstituted Complex), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TMEM106A (Two-hybrid), TSPAN4 (Two-hybrid), TMEM106A (Negative Genetic), EPHB4 (Affinity Capture-MS), TPST2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4J1F4, A6NEK1, G3X9X1, O14972, O15344, O15519, O35075, O70263, O70583, O94955, P82457, P82458, Q2HY40, Q2TBA3, Q32KX1, Q32NJ2, Q497K5, Q4VX76, Q54DI8, Q568M3, Q5M7W1, Q5R5L7, Q5R811, Q5R8Q5, Q5RD56, Q5RDY3, Q5RF33, Q60584, Q62807, Q6TXF1, Q6ZWE6, Q7TP90, Q7TPQ9, Q7ZX59, Q80WG7, Q8BG60, Q8BM47, Q8IY47, Q8NCT1, Q8W4D4

Diamond homologs: Q1LWC2, Q3T144, Q3ZC25, Q5BK83, Q5EA90, Q5RJK0, Q6AYA5, Q80VP8, Q80X71, Q8VC04, Q96A25, Q9BVX2, Q9NUM4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance34
Likely benign3
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1713241NC_000017.10:g.41221355_41380248delPathogenic

SpliceAI

1472 predictions. Top by Δscore:

VariantEffectΔscore
17:43213019:A:AGacceptor_gain1.0000
17:43213020:G:GGacceptor_gain1.0000
17:43213020:GT:Gacceptor_gain1.0000
17:43215861:C:CAacceptor_gain1.0000
17:43215918:GCTGA:Gdonor_gain1.0000
17:43215942:GTGG:Gdonor_gain1.0000
17:43216448:GA:Gacceptor_gain1.0000
17:43216448:GAAT:Gacceptor_gain1.0000
17:43216696:GAT:Gacceptor_gain1.0000
17:43216738:ATA:Adonor_gain1.0000
17:43216739:TA:Tdonor_gain1.0000
17:43216741:G:GGdonor_gain1.0000
17:43217258:GCAAA:Gacceptor_gain1.0000
17:43217313:G:GGdonor_gain1.0000
17:43213019:AGT:Aacceptor_gain0.9900
17:43213020:GTG:Gacceptor_gain0.9900
17:43213020:GTGAA:Gacceptor_gain0.9900
17:43213826:A:AGacceptor_gain0.9900
17:43213827:G:GGacceptor_gain0.9900
17:43213827:GA:Gacceptor_gain0.9900
17:43213827:GAGCT:Gacceptor_gain0.9900
17:43213892:G:GGdonor_gain0.9900
17:43215938:AACG:Adonor_loss0.9900
17:43216445:CCAGA:Cacceptor_loss0.9900
17:43216446:CA:Cacceptor_loss0.9900
17:43216447:A:ACacceptor_loss0.9900
17:43216447:A:AGacceptor_gain0.9900
17:43216448:G:GAacceptor_gain0.9900
17:43216448:GAA:Gacceptor_gain0.9900
17:43216448:GAATA:Gacceptor_gain0.9900

AlphaMissense

1707 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:43213855:T:CI80T0.973
17:43217266:T:CC208R0.972
17:43215819:T:CC103R0.971
17:43217268:T:GC208W0.970
17:43217751:T:AC247S0.970
17:43217752:G:CC247S0.970
17:43217266:T:AC208S0.968
17:43217267:G:CC208S0.968
17:43217682:G:CG224R0.968
17:43217267:G:AC208Y0.967
17:43217689:T:CL226P0.964
17:43217751:T:CC247R0.964
17:43217753:C:GC247W0.958
17:43216469:T:AN150K0.957
17:43216469:T:GN150K0.957
17:43216501:T:CL161P0.954
17:43213855:T:GI80S0.950
17:43217752:G:AC247Y0.947
17:43213216:T:CC59R0.946
17:43217683:G:AG224D0.945
17:43213874:G:CR86S0.944
17:43213874:G:TR86S0.944
17:43215931:T:CL140P0.942
17:43216475:C:AN152K0.942
17:43216475:C:GN152K0.942
17:43213876:T:CL87P0.940
17:43216456:T:CL146S0.940
17:43213855:T:AI80N0.938
17:43217727:T:CF239L0.931
17:43217729:T:AF239L0.931

dbSNP variants (sampled 300 via entrez): RS1000105420 (17:43218586 G>A), RS1000136495 (17:43218897 C>T), RS1000902714 (17:43211013 T>C), RS1001356619 (17:43211313 T>C), RS1001576724 (17:43214263 G>A,C), RS1001918905 (17:43212537 C>A,T), RS1001961765 (17:43218201 C>G,T), RS1002237114 (17:43211383 G>A), RS1002374664 (17:43219696 C>T), RS1003513529 (17:43212678 T>A), RS1003577998 (17:43212307 G>A,T), RS1003637719 (17:43219849 C>G,T), RS1004886863 (17:43213749 C>A,T), RS1004939273 (17:43214082 G>A), RS1005613838 (17:43217583 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:604370

GenCC curated gene-disease

Mondo (2): breast-ovarian cancer, familial, susceptibility to, 1 (MONDO:0011450), neuromuscular disease (MONDO:0019056)

Orphanet (2): Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), Neuromuscular disease (Orphanet:68381)

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST006585_2771Blood protein levels9.000000e-08

MeSH disease descriptors (1)

DescriptorNameTree numbers
D009468Neuromuscular DiseasesC10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases expression2
Estradioldecreases expression2
Nickelincreases expression2
Cadmium Chlorideincreases abundance, increases expression, decreases expression2
Particulate Matterincreases abundance, increases expression, affects cotreatment, decreases expression2
aristolochic acid Idecreases expression1
dicrotophosincreases expression1
methylmercuric chlorideincreases expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
sodium arseniteincreases expression1
hydroquinonedecreases expression1
perfluorooctane sulfonic acidincreases expression1
CGP 52608increases reaction, affects binding1
ICG 001increases expression1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acidincreases expression1
Temozolomidedecreases expression1
Sunitinibdecreases expression1
Arsenic Trioxideincreases expression1
Air Pollutantsincreases abundance, increases expression1
Cadmiumdecreases expression, increases abundance1
Caffeinedecreases phosphorylation1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Doxorubicindecreases expression1
Gasolineaffects cotreatment, decreases expression, increases abundance1
Leadincreases expression1
Polycyclic Aromatic Hydrocarbonsincreases abundance, affects cotreatment, decreases expression1
Quercetindecreases expression1
Silicon Dioxideincreases expression1
Thiramincreases expression1
Zincincreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00331656PHASE4UNKNOWNComparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552PHASE4UNKNOWNComparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033PHASE3TERMINATEDEvaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227PHASE3COMPLETEDThe Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108PHASE3COMPLETEDThe Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487PHASE3COMPLETEDPhase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959PHASE3TERMINATEDAn Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096PHASE3COMPLETEDA Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814PHASE3TERMINATEDRepeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631PHASE3COMPLETEDLong-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758PHASE3ACTIVE_NOT_RECRUITINGA Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320PHASE3COMPLETEDEfficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855PHASE3ACTIVE_NOT_RECRUITINGLong-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237PHASE3RECRUITINGA Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359PHASE2TERMINATEDSafety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149PHASE2COMPLETEDPatient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072PHASE2TERMINATEDEvaluation of Vital Capacity
NCT03127514PHASE2COMPLETEDAMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780PHASE2COMPLETEDA Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528PHASE2COMPLETEDAn Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
NCT05479981PHASE2COMPLETEDExtension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT06339580PHASE2RECRUITINGAssessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease
NCT07071935PHASE2NOT_YET_RECRUITINGA Clinical Trial of Early Ventilation in Amyotrophic Lateral Sclerosis (EVENT ALS)
NCT07287189PHASE2RECRUITINGPhase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT00252252PHASE1COMPLETEDAutoVPAP Versus VPAP; Assessment of Sleep and Ventilation
NCT01560741PHASE1UNKNOWNTelemedicine and Ventilator Titration in Chronic Respiratory Patients Initiating Non-invasive Ventilation
NCT01621984PHASE1COMPLETEDTherapeutic Riding and Neuromuscular Disease
NCT01758510PHASE1COMPLETEDSafety Study of HLA-haplo Matched Allogenic Bone Marrow Derived Stem Cell Treatment in Amyotrophic Lateral Sclerosis
NCT03440034PHASE1COMPLETEDStudy of Pioglitazone in Sporadic Inclusion Body Myositis
NCT05730842PHASE1COMPLETEDAbsorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT03272802PHASE2/PHASE3UNKNOWNTreatment Effect of Edaravone in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT00860951PHASE1/PHASE2COMPLETEDP300 Brain Computer Interface Keyboard to Operate Assistive Technology
NCT02362425PHASE1/PHASE2COMPLETEDAntioxidant Therapy in RYR1-Related Congenital Myopathy
NCT00001201Not specifiedCOMPLETEDEvaluation of Neuromuscular Disease
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