TTC27

Summary

TTC27 (tetratricopeptide repeat domain 27, HGNC:25986) is a protein-coding gene on chromosome 2p22.3, encoding Tetratricopeptide repeat protein 27 (Q6P3X3). It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 189 total
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_017735

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25986
Approved symbol	TTC27
Name	tetratricopeptide repeat domain 27
Location	2p22.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20272
Ensembl gene	ENSG00000018699
Ensembl biotype	protein_coding
Entrez	55622

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 15 protein_coding, 4 nonsense_mediated_decay

ENST00000317907, ENST00000428527, ENST00000433416, ENST00000438654, ENST00000448773, ENST00000454690, ENST00000647819, ENST00000884597, ENST00000884598, ENST00000884599, ENST00000934658, ENST00000934659, ENST00000934660, ENST00000934661, ENST00000934662, ENST00000956003, ENST00000956004, ENST00000956005, ENST00000956006

RefSeq mRNA: 2 — MANE Select: NM_017735 NM_001193509, NM_017735

CCDS: CCDS33176

Canonical transcript exons

ENST00000317907 — 20 exons

Exon	Start	End
ENSE00000397595	32736694	32736816
ENSE00000743841	32733828	32733923
ENSE00000743846	32758292	32758519
ENSE00000809504	32664303	32664467
ENSE00000932477	32817457	32817557
ENSE00001006662	32650131	32650233
ENSE00001006663	32640270	32640410
ENSE00001189649	32672272	32672384
ENSE00001189655	32666635	32666768
ENSE00001189670	32633876	32634005
ENSE00001257666	32820816	32821051
ENSE00001309519	32628050	32628380
ENSE00003475874	32811024	32811221
ENSE00003495271	32678856	32678922
ENSE00003533874	32630523	32630700
ENSE00003608547	32812504	32812615
ENSE00003678340	32782626	32782678
ENSE00003684219	32777882	32777980
ENSE00003688427	32786984	32787149
ENSE00003688501	32702807	32702920

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 91.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.2310 / max 504.1870, expressed in 1802 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19656	17.2240	1792
19655	8.0071	1717

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.14	gold quality
calcaneal tendon	UBERON:0003701	86.05	gold quality
colonic epithelium	UBERON:0000397	85.81	gold quality
cortical plate	UBERON:0005343	85.52	gold quality
ventricular zone	UBERON:0003053	85.00	gold quality
germinal epithelium of ovary	UBERON:0001304	84.92	gold quality
parotid gland	UBERON:0001831	84.34	silver quality
adrenal tissue	UBERON:0018303	83.33	gold quality
parietal pleura	UBERON:0002400	83.15	gold quality
upper leg skin	UBERON:0004262	83.11	gold quality
ganglionic eminence	UBERON:0004023	83.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.60	gold quality
islet of Langerhans	UBERON:0000006	82.60	gold quality
skin of hip	UBERON:0001554	82.60	gold quality
tendon	UBERON:0000043	82.52	gold quality
popliteal artery	UBERON:0002250	82.31	gold quality
tibial artery	UBERON:0007610	82.31	gold quality
gastrocnemius	UBERON:0001388	82.30	gold quality
muscle of leg	UBERON:0001383	82.19	gold quality
pleura	UBERON:0000977	82.06	gold quality
right adrenal gland	UBERON:0001233	81.55	gold quality
skin of leg	UBERON:0001511	81.42	gold quality
ovary	UBERON:0000992	81.40	gold quality
aorta	UBERON:0000947	81.38	gold quality
pancreas	UBERON:0001264	81.22	gold quality
left adrenal gland	UBERON:0001234	81.09	gold quality
skin of abdomen	UBERON:0001416	81.09	gold quality
rectum	UBERON:0001052	81.07	gold quality
tonsil	UBERON:0002372	81.05	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.04	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)

12 targeting TTC27, 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-548C-3P	99.99	74.01	7587
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-634	97.74	67.11	818

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ttc27	ENSDARG00000007918
mus_musculus	Ttc27	ENSMUSG00000024078
drosophila_melanogaster	CG5290	FBGN0036772
caenorhabditis_elegans		WBGENE00020600

Protein

Protein identifiers

Tetratricopeptide repeat protein 27 — Q6P3X3 (reviewed: Q6P3X3)

All UniProt accessions (7): A0A3B3IS02, C9JVS4, Q6P3X3, F8WCH1, H7C178, H7C329, H7C3A3

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TTC27 family.

RefSeq proteins (2): NP_001180438, NP_060205* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR044244	TTC27/Emw1	Family

Pfam: PF13432

UniProt features (14 total): repeat 6, sequence variant 4, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P3X3-F1	90.66	0.68

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 124 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, WEI_MYCN_TARGETS_WITH_E_BOX, WANG_TARGETS_OF_MLL_CBP_FUSION_DN, ACEVEDO_LIVER_CANCER_UP, BERENJENO_TRANSFORMED_BY_RHOA_UP, VANHARANTA_UTERINE_FIBROID_WITH_7Q_DELETION_UP, SANSOM_APC_TARGETS, SANSOM_APC_MYC_TARGETS, SANSOM_APC_TARGETS_REQUIRE_MYC, CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN, OKUMURA_INFLAMMATORY_RESPONSE_LPS, WIERENGA_STAT5A_TARGETS_DN, chr2p22, PHONG_TNF_RESPONSE_VIA_P38_PARTIAL, GSE14415_FOXP3_KO_NATURAL_TREG_VS_TCONV_DN

GO Biological Process (0):

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

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1906 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TTC27	BIRC6	Q9NR09	566
TTC27	GPATCH11	Q8N954	456
TTC27	MPPED1	O15442	429
TTC27	EAPP	Q56P03	425
TTC27	ZNHIT2	Q9UHR6	411
TTC27	TXLNB	Q8N3L3	408
TTC27	SMIM43	Q4W5P6	399
TTC27	NKAPD1	Q6ZUT1	397
TTC27	SAP130	Q9H0E3	375
TTC27	TXLNG	Q9NUQ3	372
TTC27	TSPYL6	Q8N831	358
TTC27	TSSC4	Q9Y5U2	348
TTC27	LHFPL6	Q9Y693	345
TTC27	SNRNP40	Q96DI7	343
TTC27	MTA3	Q9BTC8	337

IntAct

103 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
EFTUD2	SART1	psi-mi:“MI:0914”(association)	0.610
TTC27	LRRK2	psi-mi:“MI:0407”(direct interaction)	0.590
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
ILVBL	SLC33A1	psi-mi:“MI:0914”(association)	0.530
EFTUD2	AQR	psi-mi:“MI:0914”(association)	0.530
EAPP	SNRNP200	psi-mi:“MI:0914”(association)	0.530
AAR2	SNRNP200	psi-mi:“MI:0914”(association)	0.530
TTC27	DAPK1	psi-mi:“MI:0407”(direct interaction)	0.440
TTC27	MFHAS1	psi-mi:“MI:0407”(direct interaction)	0.440
Prpf8		psi-mi:“MI:0915”(physical association)	0.400
MYC	ILVBL	psi-mi:“MI:0914”(association)	0.350
M	NPEPPSL1	psi-mi:“MI:0914”(association)	0.350
PB1	HAX1	psi-mi:“MI:0914”(association)	0.350
PB1	IPO5	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1	UBR5	psi-mi:“MI:0914”(association)	0.350
NS1	HAX1	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
M2	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
PB2	ESYT2	psi-mi:“MI:0914”(association)	0.350
M2	IPO5	psi-mi:“MI:0914”(association)	0.350

BioGRID (168): C10orf76 (Co-fractionation), CD2AP (Co-fractionation), GFPT1 (Co-fractionation), MAPK3 (Co-fractionation), NMD3 (Co-fractionation), PPP2R5D (Co-fractionation), SKIV2L2 (Co-fractionation), TTC27 (Co-fractionation), TTC27 (Co-fractionation), TTC27 (Co-fractionation), TTC27 (Co-fractionation), TTC27 (Co-fractionation), TTC27 (Affinity Capture-MS), TTC27 (Synthetic Growth Defect), TTC27 (Affinity Capture-MS)

ESM2 similar proteins: A1A4I9, A5D796, A5PJZ5, A7S2N8, A9ULY7, B0F9L4, B2GV24, F4HQ84, F4IDS7, O60308, O75694, O75717, O94874, P32780, P37199, P59328, Q14CX7, Q1RMS6, Q28HX4, Q4R367, Q5R822, Q5RBW9, Q5ZL91, Q5ZMG1, Q66HC5, Q6DDM4, Q6NX12, Q6P3X3, Q6PGY6, Q7TQK1, Q7ZU29, Q7ZX96, Q8BGQ1, Q8BJ71, Q8BWZ3, Q8CCJ3, Q8JGR7, Q8N1F7, Q8R3N6, Q8WVM7

Diamond homologs: P41842, Q17QZ7, Q54BW6, Q5F3K0, Q5RBW9, Q6P3X3, Q8CD92

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	151
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4275 predictions. Top by Δscore:

Variant	Effect	Δscore
2:32630522:GAGA:G	acceptor_gain	1.0000
2:32630697:A:T	donor_gain	1.0000
2:32640267:CA:C	acceptor_loss	1.0000
2:32640268:A:AG	acceptor_gain	1.0000
2:32640268:AGGT:A	acceptor_loss	1.0000
2:32640269:G:GG	acceptor_gain	1.0000
2:32640269:GGTT:G	acceptor_gain	1.0000
2:32640409:AGGTA:A	donor_loss	1.0000
2:32640410:GGTAA:G	donor_loss	1.0000
2:32640411:GT:G	donor_loss	1.0000
2:32640412:T:G	donor_loss	1.0000
2:32650130:GA:G	acceptor_gain	1.0000
2:32650231:AAGG:A	donor_loss	1.0000
2:32650232:AGGTA:A	donor_loss	1.0000
2:32650233:GGTA:G	donor_loss	1.0000
2:32650234:G:GA	donor_loss	1.0000
2:32650235:T:G	donor_loss	1.0000
2:32664293:T:TA	acceptor_gain	1.0000
2:32664299:GCAGT:G	acceptor_loss	1.0000
2:32664301:A:AC	acceptor_loss	1.0000
2:32664301:A:AG	acceptor_gain	1.0000
2:32664301:AGT:A	acceptor_gain	1.0000
2:32664302:G:GA	acceptor_gain	1.0000
2:32664302:GT:G	acceptor_gain	1.0000
2:32664302:GTG:G	acceptor_gain	1.0000
2:32664302:GTGA:G	acceptor_gain	1.0000
2:32664302:GTGAT:G	acceptor_gain	1.0000
2:32664463:GACAG:G	donor_gain	1.0000
2:32664465:CAGG:C	donor_loss	1.0000
2:32664466:AGGT:A	donor_loss	1.0000

AlphaMissense

5511 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:32787012:G:C	A621P	0.997
2:32777894:T:C	F565L	0.995
2:32777896:T:A	F565L	0.995
2:32777896:T:G	F565L	0.995
2:32782638:T:A	W598R	0.995
2:32782638:T:C	W598R	0.995
2:32777904:G:A	G568D	0.994
2:32758431:G:C	R531P	0.992
2:32777903:G:C	G568R	0.992
2:32777951:T:C	F584L	0.990
2:32777953:T:A	F584L	0.990
2:32777953:T:G	F584L	0.990
2:32787045:T:A	W632R	0.990
2:32787045:T:C	W632R	0.990
2:32777901:T:C	L567P	0.989
2:32782640:G:C	W598C	0.989
2:32782640:G:T	W598C	0.989
2:32758496:T:C	S553P	0.988
2:32777891:T:A	W564R	0.988
2:32777891:T:C	W564R	0.988
2:32777952:T:C	F584S	0.988
2:32650143:T:A	W184R	0.987
2:32650143:T:C	W184R	0.987
2:32777904:G:T	G568V	0.987
2:32782646:T:A	N600K	0.987
2:32782646:T:G	N600K	0.987
2:32782650:T:C	S602P	0.987
2:32787115:T:C	L655P	0.986
2:32758356:G:A	G506E	0.985
2:32758452:T:C	L538P	0.985

dbSNP variants (sampled 300 via entrez): RS1000002849 (2:32821279 G>A), RS1000011602 (2:32754857 G>T), RS1000033874 (2:32691130 A>G), RS1000060356 (2:32626552 G>C), RS1000061666 (2:32714808 A>G), RS1000071845 (2:32746343 C>A,T), RS1000077863 (2:32669078 CA>C,CAA), RS1000096985 (2:32775663 A>T), RS1000100817 (2:32708519 A>T), RS1000101007 (2:32797161 G>A,T), RS1000119422 (2:32817918 A>C,G,T), RS1000128230 (2:32775400 G>A), RS1000136803 (2:32736620 G>A,T), RS1000181021 (2:32793843 C>T), RS1000202980 (2:32754109 A>G)

Disease associations

OMIM: gene `` | 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

13 associations (top):

Study	Trait	p-value
GCST001530_2	Hippocampal atrophy	2.000000e-06
GCST005316_318	Intelligence (MTAG)	4.000000e-08
GCST005790_84	Rosacea symptom severity	4.000000e-07
GCST006522_3	Upper eyelid sagging severity	2.000000e-06
GCST006661_137	Male-pattern baldness	2.000000e-19
GCST006661_149	Male-pattern baldness	5.000000e-18
GCST006661_313	Male-pattern baldness	2.000000e-20
GCST007326_70	Number of sexual partners	1.000000e-08
GCST009391_422	Metabolite levels	5.000000e-06
GCST009391_914	Metabolite levels	7.000000e-06
GCST90000025_805	Appendicular lean mass	2.000000e-15
GCST90000047_29	Age at first sexual intercourse	2.000000e-09
GCST90014033_7	Haemorrhoidal disease	2.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0005039	hippocampal atrophy
EFO:0004337	intelligence
EFO:0009180	rosacea severity measurement
EFO:0010388	phosphatidylcholine 38:6 measurement
EFO:0010442	triacylglycerol 58:8 measurement
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement

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)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	5
(+)-JQ1 compound	decreases expression	3
sodium arsenite	decreases expression	2
Acetaminophen	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
alpha phellandrene	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Hydrogen Peroxide	affects expression	1
Quercetin	decreases expression	1
Testosterone	decreases expression	1
Thiram	increases expression	1
Valproic Acid	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	increases expression	1
Sodium Selenite	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