CFAP74

Summary

CFAP74 (cilia and flagella associated protein 74, HGNC:29368) is a protein-coding gene on chromosome 1p36.33, encoding Cilia- and flagella-associated protein 74 (Q9C0B2). As part of the central apparatus of the cilium axoneme may play a role in cilium movement.

Predicted to be involved in axoneme assembly. Located in cytoplasm; nucleus; and sperm flagellum. Implicated in primary ciliary dyskinesia.

Source: NCBI Gene 85452 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 49, without situs inversus (Moderate, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 203 total — 7 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 56
• MANE Select transcript: NM_001304360

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29368
Approved symbol	CFAP74
Name	cilia and flagella associated protein 74
Location	1p36.33
Locus type	gene with protein product
Status	Approved
Aliases	FLJ45476
Ensembl gene	ENSG00000142609
Ensembl biotype	protein_coding
OMIM	620187
Entrez	85452

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 retained_intron, 3 protein_coding

ENST00000270720, ENST00000378590, ENST00000378592, ENST00000412120, ENST00000461752, ENST00000464311, ENST00000468610, ENST00000493316, ENST00000493964, ENST00000682832

RefSeq mRNA: 1 — MANE Select: NM_001304360 NM_001304360

CCDS: CCDS90840

Canonical transcript exons

ENST00000682832 — 39 exons

Exon	Start	End
ENSE00001696103	1926894	1927028
ENSE00001767669	1927607	1927746
ENSE00001833586	1942028	1942156
ENSE00001844333	1940316	1940403
ENSE00001896802	1930060	1930336
ENSE00001910630	1946317	1946439
ENSE00001924949	1928784	1928882
ENSE00001931348	1939594	1939767
ENSE00001958120	1938855	1938988
ENSE00001958749	1944331	1944452
ENSE00003473372	1959964	1960030
ENSE00003476387	1963749	1963867
ENSE00003478389	1926457	1926512
ENSE00003514677	1988512	1988655
ENSE00003522881	1925783	1925938
ENSE00003528963	1926652	1926761
ENSE00003536274	1923367	1923499
ENSE00003552917	1966371	1966526
ENSE00003561944	1955691	1955850
ENSE00003585076	1988889	1988973
ENSE00003605108	1990890	1990975
ENSE00003622276	1924391	1924520
ENSE00003634604	1923775	1923929
ENSE00003650472	1926228	1926347
ENSE00003664478	1959120	1959209
ENSE00003686348	1964888	1965061
ENSE00003691473	1956620	1956784
ENSE00003714108	1972937	1973047
ENSE00003720442	1985386	1985490
ENSE00003722823	1971980	1972082
ENSE00003730804	1986937	1987035
ENSE00003736758	1974025	1974198
ENSE00003744170	1968635	1968833
ENSE00003745188	1970659	1970816
ENSE00003749889	1946990	1947054
ENSE00003824989	1922589	1922723
ENSE00003916243	1921957	1922388
ENSE00003920541	2003701	2003786
ENSE00003924366	1922985	1923145

Expression profiles

Bgee: expression breadth ubiquitous, 163 present calls, max score 96.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2313 / max 36.0868, expressed in 109 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
9861	0.0909	46
9863	0.0488	21
9859	0.0339	13
9864	0.0289	7
9862	0.0288	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	96.92	gold quality
epithelium of bronchus	UBERON:0002031	85.64	gold quality
bronchial epithelial cell	CL:0002328	85.31	gold quality
bronchus	UBERON:0002185	84.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.91	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.41	gold quality
right testis	UBERON:0004534	82.88	gold quality
left testis	UBERON:0004533	82.81	gold quality
cerebellar hemisphere	UBERON:0002245	82.43	gold quality
cerebellar cortex	UBERON:0002129	82.16	gold quality
cerebellum	UBERON:0002037	80.16	gold quality
testis	UBERON:0000473	79.90	gold quality
hair follicle	UBERON:0002073	79.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.99	gold quality
buccal mucosa cell	CL:0002336	78.12	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.44	gold quality
right frontal lobe	UBERON:0002810	75.47	gold quality
mucosa of paranasal sinus	UBERON:0005030	74.86	silver quality
tibialis anterior	UBERON:0001385	73.36	silver quality
Brodmann (1909) area 9	UBERON:0013540	72.25	gold quality
nasal cavity mucosa	UBERON:0001826	72.04	gold quality
anterior cingulate cortex	UBERON:0009835	71.95	gold quality
cingulate cortex	UBERON:0003027	71.93	gold quality
caudate nucleus	UBERON:0001873	71.83	gold quality
right lung	UBERON:0002167	71.58	gold quality
prefrontal cortex	UBERON:0000451	71.50	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.50	gold quality
right lobe of liver	UBERON:0001114	71.07	gold quality
frontal cortex	UBERON:0001870	70.70	gold quality
nasal cavity epithelium	UBERON:0005384	70.07	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.53
E-MTAB-6678	no	3.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting CFAP74, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-6069	97.45	65.88	357
HSA-MIR-3126-3P	97.17	66.51	468
HSA-MIR-3907	96.76	65.04	662

Literature-anchored findings (GeneRIF, showing 3)

• KIAA1751 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells. (PMID:21555518)
• Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype. (PMID:32555313)
• Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure. (PMID:36047773)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap74	ENSDARG00000075917
mus_musculus	Cfap74	ENSMUSG00000078490
rattus_norvegicus	Cfap74	ENSRNOG00000023627

Protein

Protein identifiers

Cilia- and flagella-associated protein 74 — Q9C0B2 (reviewed: Q9C0B2)

All UniProt accessions (3): Q9C0B2, A0A804HLA9, Q5T2D8

UniProt curated annotations — full annotation on UniProt →

Function. As part of the central apparatus of the cilium axoneme may play a role in cilium movement. May play an important role in sperm architecture and function.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Disease relevance. Ciliary dyskinesia, primary, 49, without situs inversus (CILD49) [MIM:620197] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the CFAP74 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9C0B2-1	1	yes
Q9C0B2-2	2
Q9C0B2-3	3

RefSeq proteins (1): NP_001291289* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR056306	Ig-CFAP74_2nd	Domain
IPR056307	Ig-CFAP74_3rd	Domain
IPR056310	Ig-CFAP74_4th	Domain

Pfam: PF24770, PF24771, PF24778, PF24798

UniProt features (18 total): sequence variant 7, sequence conflict 3, splice variant 3, compositionally biased region 2, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9C0B2-F1	69.38	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 173 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, chr1p36, LU_EZH2_TARGETS_DN, GOBP_MICROTUBULE_CYTOSKELETON_ORGANIZATION, GOCC_9PLUS2_MOTILE_CILIUM, BCAT.100_UP.V1_UP

GO Biological Process (1): axoneme assembly (GO:0035082)

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

GO Cellular Component (8): nucleus (GO:0005634), cytoplasm (GO:0005737), axoneme (GO:0005930), sperm flagellum (GO:0036126), cytoskeleton (GO:0005856), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
microtubule bundle formation	1
cellular component assembly	1
cilium assembly	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

1149 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP74	GABRD	O14764	821
CFAP74	RSPH10B	P0C881	625
CFAP74	PRKCZ	Q05513	577
CFAP74	SLC6A1	P30531	549
CFAP74	GABRA5	P31644	545
CFAP74	TTC29	Q8NA56	529
CFAP74	TSNAXIP1	Q2TAA8	526
CFAP74	RSPH14	Q9UHP6	524
CFAP74	CFAP43	Q8NDM7	521
CFAP74	CCDC146	Q8IYE0	502
CFAP74	ZSWIM2	Q8NEG5	500
CFAP74	KCNK3	O14649	492
CFAP74	GABRA4	P48169	490
CFAP74	PRAMEF18	Q5VWM3	478
CFAP74	CHLSN	Q9BRJ6	468

IntAct

12 interactions, top by confidence:

A	B	Type	Score
HTR1E	ATP5F1B	psi-mi:“MI:0914”(association)	0.560
C20orf96	CFAP74	psi-mi:“MI:0915”(physical association)	0.560
CFAP74	STT3B	psi-mi:“MI:0915”(physical association)	0.400
CFAP74	MANF	psi-mi:“MI:0915”(physical association)	0.400
CFAP74	SPTB	psi-mi:“MI:0915”(physical association)	0.400
MAPT	LANCL1	psi-mi:“MI:0914”(association)	0.350
C20orf96	HSPA8	psi-mi:“MI:0914”(association)	0.350
KATNIP		psi-mi:“MI:0914”(association)	0.350
HCN4	CFAP74	psi-mi:“MI:0914”(association)	0.350
CFAP74	UNC119B	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): CFAP74 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), CFAP74 (Affinity Capture-MS), CFAP74 (Proximity Label-MS), CFAP74 (Proximity Label-MS), CFAP74 (Affinity Capture-RNA), CFAP74 (Affinity Capture-MS), CFAP74 (Cross-Linking-MS (XL-MS)), CFAP74 (Affinity Capture-MS), GNS (Cross-Linking-MS (XL-MS)), CFAP74 (Affinity Capture-MS)

ESM2 similar proteins: A2VD13, A6QP29, A7E3N7, B5DFG1, O75127, P54098, P54099, Q05AA6, Q13474, Q3SX05, Q3SZK4, Q3TYG6, Q3U0L2, Q3U5Q7, Q3URY6, Q3ZBK7, Q4R5Q4, Q53GS7, Q58CQ5, Q5R655, Q5RAS2, Q66H85, Q6NUQ4, Q6ZUX3, Q7YS91, Q80UU1, Q8BKF1, Q8BL74, Q8C0R7, Q8C1F5, Q8C2E4, Q8CJ00, Q8N4P6, Q8R322, Q8TE82, Q969Z0, Q96KN7, Q96MK2, Q99MQ3, Q9BQ95

Diamond homologs: D4P3R7, Q3UY96, Q9C0B2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	7
Uncertain significance	156
Likely benign	20
Benign	3

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	Pathogenic
2443731	NM_001304360.2(CFAP74):c.983G>A (p.Gly328Asp)	Pathogenic
2443732	NM_001304360.2(CFAP74):c.3532G>A (p.Asp1178Asn)	Pathogenic
2443733	NM_001304360.2(CFAP74):c.652C>T (p.Arg218Trp)	Pathogenic
2443734	NM_001304360.2(CFAP74):c.4331G>C (p.Ser1444Thr)	Pathogenic
2443736	NM_001304360.2(CFAP74):c.907del (p.Gln303fs)	Pathogenic
427642	GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	Pathogenic
2443735	NM_001304360.2(CFAP74):c.4380_4381dup (p.Phe1461fs)	Likely pathogenic
2443737	NM_001304360.2(CFAP74):c.1706dup (p.Gly570fs)	Likely pathogenic
3340495	NM_001304360.2(CFAP74):c.2924del (p.Leu975fs)	Likely pathogenic
3340496	NM_001304360.2(CFAP74):c.1714_1715del (p.Leu572fs)	Likely pathogenic
3362881	NM_001304360.2(CFAP74):c.3044T>C (p.Val1015Ala)	Likely pathogenic
3362882	NM_001304360.2(CFAP74):c.2452C>T (p.Arg818Trp)	Likely pathogenic
4280102	NM_001304360.2(CFAP74):c.838C>T (p.Arg280Ter)	Likely pathogenic

SpliceAI

8734 predictions. Top by Δscore:

Variant	Effect	Δscore
1:1922587:A:AC	donor_gain	1.0000
1:1922588:C:CC	donor_gain	1.0000
1:1922588:CAT:C	donor_gain	1.0000
1:1923365:AC:A	donor_gain	1.0000
1:1923366:CC:C	donor_gain	1.0000
1:1923366:CCCT:C	donor_gain	1.0000
1:1923496:TTTT:T	acceptor_gain	1.0000
1:1923925:CGTCC:C	acceptor_gain	1.0000
1:1923926:GTCC:G	acceptor_gain	1.0000
1:1923927:TCC:T	acceptor_gain	1.0000
1:1923928:CC:C	acceptor_gain	1.0000
1:1923928:CCC:C	acceptor_gain	1.0000
1:1923929:CC:C	acceptor_gain	1.0000
1:1923930:C:CA	acceptor_loss	1.0000
1:1923930:C:CC	acceptor_gain	1.0000
1:1923931:T:A	acceptor_loss	1.0000
1:1924399:T:TA	donor_gain	1.0000
1:1924403:T:TA	donor_gain	1.0000
1:1924492:T:C	acceptor_gain	1.0000
1:1924516:TGCAG:T	acceptor_gain	1.0000
1:1924518:CAG:C	acceptor_gain	1.0000
1:1924519:AG:A	acceptor_gain	1.0000
1:1924521:C:A	acceptor_loss	1.0000
1:1924521:C:CC	acceptor_gain	1.0000
1:1926643:G:C	donor_gain	1.0000
1:1926762:C:CC	acceptor_gain	1.0000
1:1926919:T:TA	donor_gain	1.0000
1:1927602:CCCA:C	donor_loss	1.0000
1:1927603:CCAC:C	donor_loss	1.0000
1:1927604:CA:C	donor_loss	1.0000

AlphaMissense

10731 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:1939740:C:G	A911P	0.997
1:1942037:A:G	F869S	0.996
1:1939639:G:C	N944K	0.995
1:1939639:G:T	N944K	0.995
1:1940332:A:T	I896K	0.994
1:1944375:G:C	C814W	0.994
1:1939610:A:G	F954S	0.993
1:1939615:G:C	F952L	0.993
1:1939615:G:T	F952L	0.993
1:1939617:A:G	F952L	0.993
1:1939733:A:T	V913D	0.993
1:1940350:A:G	L890P	0.993
1:1923899:A:G	F1422S	0.992
1:1939739:G:T	A911D	0.992
1:1923835:G:C	F1443L	0.991
1:1923835:G:T	F1443L	0.991
1:1923837:A:G	F1443L	0.991
1:1923898:G:C	F1422L	0.991
1:1923898:G:T	F1422L	0.991
1:1923900:A:G	F1422L	0.991
1:1938963:C:T	G968E	0.991
1:1923836:A:G	F1443S	0.990
1:1923842:A:T	V1441D	0.990
1:1938874:A:G	C998R	0.990
1:1942043:A:G	L867P	0.990
1:1944376:C:T	C814Y	0.990
1:1944377:A:G	C814R	0.990
1:1930124:A:G	F1075S	0.989
1:1938964:C:A	G968W	0.988
1:1940332:A:C	I896R	0.988

dbSNP variants (sampled 300 via entrez): RS1000003267 (1:1981331 G>A), RS1000034351 (1:1960405 G>A), RS1000099552 (1:1961352 G>A), RS1000120274 (1:1934628 C>T), RS1000123498 (1:1995015 G>A), RS1000139697 (1:1965413 G>C,T), RS1000178405 (1:1969698 C>T), RS1000186308 (1:1936840 A>C,G), RS1000189443 (1:1996274 T>G), RS1000190895 (1:1943733 A>G), RS1000210071 (1:1993788 C>T), RS1000223511 (1:1998446 G>C), RS1000227019 (1:1961022 T>C), RS1000240229 (1:1935497 T>C), RS1000256981 (1:1946787 C>A,G,T)

Disease associations

OMIM: gene MIM:620187 | disease phenotypes: MIM:620197

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 49, without situs inversus	Limited	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 49, without situs inversus	Moderate	AR

Mondo (3): ciliary dyskinesia, primary, 49, without situs inversus (MONDO:0859353), neuromuscular disease (MONDO:0019056), distal trisomy 1p36 (MONDO:0019870)

Orphanet (2): Neuromuscular disease (Orphanet:68381), Distal duplication 1p36 syndrome (Orphanet:96069)

HPO phenotypes

56 total (30 of 56 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0005301	Persistent left superior vena cava
HP:0005425	Recurrent sinopulmonary infections
HP:0006536	Airway obstruction

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003123_1	Severe influenza A (H1N1) infection	8.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)

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

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, decreases methylation	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Aflatoxin B1	decreases methylation, increases methylation	2
dicrotophos	increases expression	1
propionaldehyde	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	affects methylation, increases methylation	1
coumarin	decreases phosphorylation	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
jinfukang	increases expression, affects cotreatment	1
Fulvestrant	increases methylation	1
Arsenic	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Methapyrilene	increases methylation	1
Quercetin	decreases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases 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