SMPX

gene
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Also known as DFNX4ChiselCsl

Summary

SMPX (small muscle protein X-linked, HGNC:11122) is a protein-coding gene on chromosome Xp22.12, encoding Small muscular protein (Q9UHP9). Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene.

Source: NCBI Gene 23676 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): nonsyndromic genetic hearing loss (Definitive, ClinGen) — +3 more curated relationships
  • Clinical variants (ClinVar): 105 total — 16 pathogenic, 7 likely-pathogenic
  • Phenotypes (HPO): 22
  • MANE Select transcript: NM_014332

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11122
Approved symbolSMPX
Namesmall muscle protein X-linked
LocationXp22.12
Locus typegene with protein product
StatusApproved
AliasesDFNX4, Chisel, Csl
Ensembl geneENSG00000091482
Ensembl biotypeprotein_coding
OMIM300226
Entrez23676

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 nonsense_mediated_decay

ENST00000379494, ENST00000494525, ENST00000646008, ENST00000867835, ENST00000867836, ENST00000867837, ENST00000867838, ENST00000941554

RefSeq mRNA: 1 — MANE Select: NM_014332 NM_014332

CCDS: CCDS14200

Canonical transcript exons

ENST00000379494 — 5 exons

ExonStartEnd
ENSE000034667172173754921737697
ENSE000036058772174375021743836
ENSE000038172922175424621754302
ENSE000038177252175794221758116
ENSE000038441362170597821706394

Expression profiles

Bgee: expression breadth ubiquitous, 186 present calls, max score 99.81.

FANTOM5 (CAGE): breadth broad, TPM avg 5.2022 / max 724.3427, expressed in 211 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
1987012.2210159
1986981.353489
1986991.0053101
1987000.430484
1987020.112445
1987030.079843

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
heart right ventricleUBERON:000208099.81gold quality
biceps brachiiUBERON:000150799.78gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450299.73gold quality
triceps brachiiUBERON:000150999.71gold quality
gluteal muscleUBERON:000200099.70gold quality
quadriceps femorisUBERON:000137799.49gold quality
vastus lateralisUBERON:000137999.49gold quality
myocardiumUBERON:000234999.44gold quality
left ventricle myocardiumUBERON:000656699.39gold quality
skeletal muscle tissueUBERON:000113499.36gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451199.36gold quality
body of tongueUBERON:001187699.34gold quality
diaphragmUBERON:000110399.31gold quality
deltoidUBERON:000147699.29gold quality
right atrium auricular regionUBERON:000663199.29gold quality
cardiac atriumUBERON:000208199.27gold quality
hindlimb stylopod muscleUBERON:000425299.25gold quality
tibialis anteriorUBERON:000138599.18gold quality
apex of heartUBERON:000209899.11gold quality
cardiac ventricleUBERON:000208299.05gold quality
cardiac muscle of right atriumUBERON:000337999.05gold quality
heart left ventricleUBERON:000208499.04gold quality
gastrocnemiusUBERON:000138898.85gold quality
muscle organUBERON:000163098.29gold quality
vena cavaUBERON:000408798.02gold quality
muscle of legUBERON:000138397.85gold quality
muscle tissueUBERON:000238596.24gold quality
heartUBERON:000094895.21gold quality
tongueUBERON:000172390.55gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099186.93gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

71 targeting SMPX, 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-1277-5P100.0073.955056
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-607799.9968.042299
HSA-MIR-428299.9975.366408
HSA-MIR-318599.9968.121959
HSA-MIR-366299.9973.825684
HSA-MIR-485-3P99.9870.681585
HSA-MIR-539-3P99.9870.741616
HSA-MIR-520D-5P99.9873.344883
HSA-MIR-524-5P99.9873.434882
HSA-LET-7C-3P99.9573.422862
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488
HSA-MIR-548AP-5P99.9471.143489
HSA-MIR-548AQ-5P99.9471.343426
HSA-MIR-548AR-5P99.9471.283515
HSA-MIR-548AS-5P99.9471.223482
HSA-MIR-548AU-5P99.9471.243488
HSA-MIR-548AY-5P99.9471.233502
HSA-MIR-548B-5P99.9471.233502

Literature-anchored findings (GeneRIF, showing 13)

  • Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function. (PMID:21549336)
  • This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes. (PMID:21549342)
  • Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations. (PMID:21893181)
  • Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families. (PMID:22911656)
  • Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. (PMID:24687041)
  • SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei. (PMID:24936977)
  • Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation. (PMID:27181368)
  • A novel frameshift mutation in SMPX. (PMID:28542515)
  • We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss (PMID:29287879)
  • detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene (PMID:29559740)
  • A donor splice-site variant in SMPX causes rare X-linked congenital deafness. (PMID:31478598)
  • In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene. (PMID:31583691)
  • Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. (PMID:33974137)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriosmpxENSDARG00000045302
mus_musculusSmpxENSMUSG00000041476
rattus_norvegicusSmpxENSRNOG00000007495

Protein

Protein identifiers

Small muscular proteinQ9UHP9 (reviewed: Q9UHP9)

Alternative names: Stretch-responsive skeletal muscle protein

All UniProt accessions (1): Q9UHP9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.

Tissue specificity. Preferentially and abundantly expressed in heart and skeletal muscle.

Disease relevance. Deafness, X-linked, 4 (DFNX4) [MIM:300066] A non-syndromic form of sensorineural, progressive hearing loss with postlingual onset. In affected males, the auditory impairment affects initially high-frequency hearing. It later evolves to become severe to profound and affects all frequencies. Carrier females manifest moderate hearing impairment in the high frequencies. The disease is caused by variants affecting the gene represented in this entry. Myopathy, distal, 7, adult-onset, X-linked (MPD7) [MIM:301075] An X-linked recessive, slowly progressive muscular disorder characterized by adult onset of distal muscle weakness predominantly, affecting the lower limbs. Some patients also have proximal muscle weakness. Histopathological and electron microscopic analysis of patient muscle biopsies reveals myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SMPX family.

RefSeq proteins (1): NP_055147* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR029268ChiselFamily

Pfam: PF15355

UniProt features (6 total): sequence variant 4, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UHP9-F167.550.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 174 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, AP1_01, HNF3ALPHA_Q6, RORA1_01, GCANCTGNY_MYOD_Q6, MODULE_522, MEF2_02, GOBP_MUSCLE_CONTRACTION, OCT1_03, WTGAAAT_UNKNOWN, GRE_C, TGANTCA_AP1_C, NRF2_Q4, AACTTT_UNKNOWN, GOBP_MUSCLE_SYSTEM_PROCESS

GO Biological Process (1): striated muscle contraction (GO:0006941)

GO Molecular Function (0):

GO Cellular Component (6): nucleus (GO:0005634), muscle tendon junction (GO:0005927), M band (GO:0031430), costamere (GO:0043034), cytoplasm (GO:0005737), contractile muscle fiber (GO:0043292)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure3
muscle contraction1
intracellular membrane-bounded organelle1
cell-substrate junction1
A band1
myofibril1
intracellular anatomical structure1
cytoplasm1
intracellular membraneless organelle1
supramolecular fiber1

Protein interactions and networks

STRING

1052 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SMPXPDK3Q15120893
SMPXITGB1BP2Q9UKP3858
SMPXPDHA1P08559763
SMPXPRPS1P09329732
SMPXPRPS1L1P21108717
SMPXCOL4A6Q14031667
SMPXTSPEARQ8WU66665
SMPXFOXO4P98177649
SMPXPOU3F4P49335642
SMPXGPSM2P81274617
SMPXTPRNQ4KMQ1613
SMPXCEACAM16Q2WEN9602
SMPXLOXHD1Q8IVV2568
SMPXSTRCQ7RTU9553
SMPXTIMM8AO60220548

IntAct

6 interactions, top by confidence:

ABTypeScore
SPINK7UBBpsi-mi:“MI:0914”(association)0.530
PLXNB1HBBpsi-mi:“MI:0914”(association)0.350
LINC01587UBA6psi-mi:“MI:0914”(association)0.350

BioGRID (8): SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (Affinity Capture-MS), SMPX (PCA), SMPX (PCA)

ESM2 similar proteins: A2AQ19, B5G1C4, B5XE27, O43395, O43768, O75391, O95983, P19237, P56211, P56212, P60840, P60841, P68210, P68211, Q0MUU2, Q13123, Q13435, Q1L8X2, Q28055, Q28GU6, Q2KI76, Q2KIA6, Q3UJB0, Q3ZBD4, Q5NVI3, Q5R5F1, Q5R5J3, Q5RAD5, Q5RB90, Q5ZIF8, Q5ZJ85, Q5ZLY8, Q66HG8, Q6DEB4, Q6GQG3, Q6NVR1, Q712U5, Q712U6, Q7TNE3, Q7ZXH9

Diamond homologs: Q0MUU2, Q3ZBD4, Q5RB90, Q925F0, Q9DC77, Q9UHP9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic16
Likely pathogenic7
Uncertain significance37
Likely benign21
Benign6

Top pathogenic / likely-pathogenic (23)

Variant IDHGVSClassification
1445549NM_014332.3(SMPX):c.130G>T (p.Glu44Ter)Pathogenic
1451817NM_014332.3(SMPX):c.233G>A (p.Ser78Asn)Pathogenic
1676664NM_014332.3(SMPX):c.79C>G (p.Pro27Ala)Pathogenic
1676665NM_014332.3(SMPX):c.38C>T (p.Ala13Val)Pathogenic
1676666NM_014332.3(SMPX):c.19C>A (p.Pro7Thr)Pathogenic
29945NM_014332.3(SMPX):c.175G>T (p.Gly59Ter)Pathogenic
29946NM_014332.3(SMPX):c.109G>T (p.Glu37Ter)Pathogenic
29947NM_014332.3(SMPX):c.214G>T (p.Glu72Ter)Pathogenic
29948NM_014332.3(SMPX):c.130del (p.Glu44fs)Pathogenic
3246751NC_000023.10:g.(?21772344)(21772408_?)delPathogenic
3601795NM_014332.3(SMPX):c.265T>C (p.Ter89Gln)Pathogenic
3601797NM_014332.3(SMPX):c.45+1G>TPathogenic
3724097NM_014332.3(SMPX):c.245del (p.Tyr82fs)Pathogenic
40063NM_014332.3(SMPX):c.99del (p.Arg34fs)Pathogenic
444056NM_014332.3(SMPX):c.87dup (p.Gly30fs)Pathogenic
987023NM_014332.3(SMPX):c.127G>T (p.Glu43Ter)Pathogenic
1065047NM_014332.3(SMPX):c.140del (p.Pro47fs)Likely pathogenic
1297079NM_014332.3(SMPX):c.132+1G>ALikely pathogenic
3024082NM_014332.3(SMPX):c.217del (p.Ile73fs)Likely pathogenic
3347097NM_014332.3(SMPX):c.109dup (p.Glu37fs)Likely pathogenic
3677196NM_014332.3(SMPX):c.45+1G>ALikely pathogenic
417903NM_014332.3(SMPX):c.133-1G>ALikely pathogenic
975949NM_014332.3(SMPX):c.29del (p.Asn10fs)Likely pathogenic

SpliceAI

738 predictions. Top by Δscore:

VariantEffectΔscore
X:21737696:CC:Cacceptor_gain1.0000
X:21737697:CC:Cacceptor_gain1.0000
X:21743744:CCTCA:Cdonor_loss1.0000
X:21743745:CTCAC:Cdonor_loss1.0000
X:21743746:TCA:Tdonor_loss1.0000
X:21743747:CACC:Cdonor_loss1.0000
X:21743748:A:Cdonor_loss1.0000
X:21743748:ACCT:Adonor_gain1.0000
X:21743749:C:CAdonor_loss1.0000
X:21743749:CCTC:Cdonor_gain1.0000
X:21743751:T:TAdonor_gain1.0000
X:21743832:TTTGC:Tacceptor_gain1.0000
X:21743833:TTGC:Tacceptor_gain1.0000
X:21743837:C:CCacceptor_gain1.0000
X:21754241:CTT:Cdonor_loss1.0000
X:21754242:TTA:Tdonor_loss1.0000
X:21754243:TACCT:Tdonor_loss1.0000
X:21754244:A:ACdonor_gain1.0000
X:21754245:C:CCdonor_gain1.0000
X:21754245:C:CGdonor_loss1.0000
X:21754300:TCC:Tacceptor_gain1.0000
X:21754300:TCCC:Tacceptor_loss1.0000
X:21754301:CC:Cacceptor_gain1.0000
X:21754301:CCC:Cacceptor_gain1.0000
X:21754302:CC:Cacceptor_gain1.0000
X:21754303:C:CCacceptor_gain1.0000
X:21754304:T:Cacceptor_loss1.0000
X:21757936:GCTTA:Gdonor_loss1.0000
X:21757937:CTTAC:Cdonor_loss1.0000
X:21757938:TTA:Tdonor_loss1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000003993 (X:21722699 C>T), RS1000090597 (X:21709840 A>G), RS1000123076 (X:21710200 A>G), RS1000168672 (X:21733926 G>C), RS1000241307 (X:21752268 A>T), RS1000253687 (X:21719859 T>C), RS1000385529 (X:21746651 T>G), RS1000470856 (X:21730175 G>A), RS1000592133 (X:21752678 T>G), RS1000787063 (X:21706735 G>A), RS1000876748 (X:21732829 G>C), RS1000877541 (X:21755528 T>C), RS1000986384 (X:21743138 G>GA), RS1001028268 (X:21717941 T>C), RS1001069580 (X:21744286 C>T)

Disease associations

OMIM: gene MIM:300226 | disease phenotypes: MIM:300066, MIM:301075, MIM:304500

GenCC curated gene-disease

DiseaseClassificationInheritance
nonsyndromic genetic hearing lossDefinitiveX-linked
hearing loss, X-linked 4StrongX-linked
myopathy, distal, 7, adult-onset, X-linkedStrongX-linked
X-linked nonsyndromic hearing lossSupportiveX-linked

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
nonsyndromic genetic hearing lossDefinitiveXL

Mondo (6): hearing loss disorder (MONDO:0005365), hearing loss, X-linked 4 (MONDO:0010238), myopathy, distal, 7, adult-onset, X-linked (MONDO:0024771), X-linked deafness (MONDO:0020768), nonsyndromic genetic hearing loss (MONDO:0019497), X-linked nonsyndromic hearing loss (MONDO:0019586)

Orphanet (2): Rare X-linked non-syndromic sensorineural deafness type DFN (Orphanet:90625), SMPX-related distal myopathy (Orphanet:700163)

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPOTerm
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000518Cataract
HP:0001419X-linked recessive inheritance
HP:0001423X-linked dominant inheritance
HP:0001638Cardiomyopathy
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0003557Increased variability in muscle fiber diameter
HP:0003596Middle age onset
HP:0003687Centrally nucleated skeletal muscle fibers
HP:0003691Scapular winging
HP:0003805Rimmed vacuoles
HP:0005101High-frequency hearing impairment
HP:0008959Distal upper limb muscle weakness
HP:0008994Proximal lower limb muscle weakness
HP:0008997Proximal upper limb muscle weakness
HP:0009053Distal lower limb muscle weakness
HP:0011462Young adult onset
HP:0011463Childhood onset
HP:0012548Fatty replacement of skeletal muscle
HP:0031318Myofiber disarray
HP:0100303Muscle fiber cytoplasmatic inclusion bodies

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

DescriptorNameTree numbers
D034381Hearing LossC09.218.458.341; C10.597.751.418.341; C23.888.592.763.393.341
C564723Deafness, X-Linked 4 (supp.)
C580334Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression4
Aflatoxin B1affects expression, decreases expression, decreases methylation3
Benzo(a)pyreneaffects methylation, decreases expression, decreases methylation2
Cyclosporinedecreases expression2
bisphenol Fincreases methylation1
methyleugenoldecreases expression1
bisphenol Aincreases methylation1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
sodium arseniteincreases expression1
butyraldehydedecreases expression1
pentanaldecreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment1
abrineincreases expression1
dorsomorphinaffects cotreatment, increases expression1
bisphenol Sdecreases methylation1
jinfukangincreases expression1
incobotulinumtoxinAdecreases expression1
MT19c compoundincreases expression1
Sunitinibdecreases expression1
Acetaminophendecreases expression1
Doxorubicinaffects expression1
Estradioldecreases expression1
Hydrogen Peroxideaffects expression1
Tobacco Smoke Pollutionincreases expression1
Triclosandecreases expression1
Okadaic Aciddecreases expression1
Copper Sulfatedecreases expression1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_A1XGUMi029-AInduced pluripotent stem cellMale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00205881PHASE4COMPLETEDBilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System
NCT00331539PHASE4UNKNOWNRelationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant
NCT00424307PHASE4UNKNOWNBilateral Cochlear Implant Benefit in Young Children
NCT00765635PHASE4COMPLETEDChlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal
NCT03321006PHASE4COMPLETEDTreating Hearing Loss to Improve Mood and Cognition in Older Adults
NCT01499901PHASE3WITHDRAWNComparison of the Bilateral Sequential and Simultaneous Cochlear Implantation in the Deaf Children
NCT02561091PHASE3COMPLETEDAM-111 in the Treatment of Acute Inner Ear Hearing Loss
NCT03331627PHASE3COMPLETEDSafety and Efficacy of STR001-IT and STR001-ER in Patients With SSHL
NCT05532657PHASE3ACTIVE_NOT_RECRUITINGACHIEVE Brain Health Follow-Up Study
NCT00013455PHASE2COMPLETEDQuantifying Auditory Perceptual Learning Following Hearing Aid Fitting
NCT00323427PHASE2COMPLETEDClinical Trial of the Living Well With Hearing Loss Workshop
NCT00552786PHASE2COMPLETEDAntioxidation Medication for Noise-induced Hearing Loss
NCT00802425PHASE2COMPLETEDEfficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss
NCT01139281PHASE2COMPLETEDThe Protective Effect of Ginkgo Biloba Extract on Cisplatin-induced Ototoxicity in Humans
NCT01451853PHASE2UNKNOWNSPI-1005 for Prevention and Treatment of Chemotherapy Induced Hearing Loss
NCT01588925PHASE2COMPLETEDHearing Preservation Using Dexamethasone and Hyaluronic Acid for Cochlear Implantation
NCT01773278PHASE2RECRUITINGCholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
NCT02832128PHASE2COMPLETEDEvaluating Possible Improvement in Speech and Hearing Tests After 28 Days of Dosing of the Study Drug AUT00063 Compared to Placebo (QuicKfire)
NCT04915183PHASE2RECRUITINGAtorvastatin to Reduce Cisplatin-Induced Hearing Loss Among Individuals With Head and Neck Cancer
NCT05258773PHASE2COMPLETEDEvaluation of the Presence of SENS-401 in the Perilymph
NCT06340633PHASE2RECRUITINGSPI-1005 in Adults Receiving Cochlear Implant
NCT00582946PHASE1COMPLETEDWide-Bandwidth Open Canal Hearing Aid For Better Multitalker Speech Understanding
NCT00584155PHASE1WITHDRAWNProtection From Cisplatin Ototoxicity by Lactated Ringers
NCT01206829PHASE1UNKNOWNHearing Impairment, Cognitive Therapy and Coping
NCT01256229PHASE1COMPLETEDOutcomes In Children With Developmental Delay And Deafness
NCT01343394PHASE1WITHDRAWNSafety of Autologous Human Umbilical Cord Blood Mononuclear Fraction to Treat Acquired Hearing Loss in Children
NCT01452607PHASE1COMPLETEDStudy to Evaluate the Safety and Pharmacokinetics of SPI-1005
NCT02259595PHASE1COMPLETEDStudy to Determine the Safety, Tolerability, and Pharmacokinetic Profile of HPN-07 and HPN-07 Plus NAC
NCT04041440PHASE1COMPLETEDSpeech Recognition Training in Children With Hearing Loss
NCT07218913PHASE1RECRUITINGTesting the Addition of Pedmark to Cisplatin Chemotherapy for Reducing Drug-Induced Ear Damage in Men With Stage II-III Metastatic Testicular Germ Cell Tumors
NCT01802190Not specifiedTERMINATEDPrevalence of POU4F3 and SLC17A8 Mutations
NCT00486577PHASE2/PHASE3COMPLETEDChronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus
NCT00789061PHASE2/PHASE3UNKNOWNApplying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation
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