CFAP300

Summary

CFAP300 (cilia and flagella associated protein 300, HGNC:28188) is a protein-coding gene on chromosome 11q22.1, encoding Cilia- and flagella-associated protein 300 (Q9BRQ4). Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility.

Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38.

Source: NCBI Gene 85016 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 38 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 123 total — 13 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 55
• MANE Select transcript: NM_032930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28188
Approved symbol	CFAP300
Name	cilia and flagella associated protein 300
Location	11q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC13040, FBB5, DNAAF17
Ensembl gene	ENSG00000137691
Ensembl biotype	protein_coding
OMIM	618058
Entrez	85016

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000434758, ENST00000526781, ENST00000529204, ENST00000530659, ENST00000534360, ENST00000879551, ENST00000920394, ENST00000953524

RefSeq mRNA: 3 — MANE Select: NM_032930 NM_001195005, NM_001363505, NM_032930

CCDS: CCDS53698, CCDS8313

Canonical transcript exons

ENST00000434758 — 7 exons

Exon	Start	End
ENSE00001423677	102083071	102084554
ENSE00001610968	102047815	102047896
ENSE00002189005	102047437	102047580
ENSE00003476695	102081215	102081281
ENSE00003513527	102066485	102066651
ENSE00003527159	102058880	102058955
ENSE00003593002	102075873	102076045

Expression profiles

Bgee: expression breadth ubiquitous, 181 present calls, max score 99.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6775 / max 177.7275, expressed in 1149 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116379	5.5241	1145
116378	0.1534	44

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	99.05	gold quality
bronchus	UBERON:0002185	98.05	gold quality
sperm	CL:0000019	95.49	gold quality
right uterine tube	UBERON:0001302	93.54	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.02	gold quality
adult organism	UBERON:0007023	91.28	gold quality
left testis	UBERON:0004533	90.97	gold quality
right testis	UBERON:0004534	90.80	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.21	gold quality
testis	UBERON:0000473	89.87	gold quality
epithelium of nasopharynx	UBERON:0001951	89.49	gold quality
oviduct epithelium	UBERON:0004804	87.93	gold quality
caput epididymis	UBERON:0004358	86.34	gold quality
fallopian tube	UBERON:0003889	85.31	gold quality
ventricular zone	UBERON:0003053	85.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.26	gold quality
calcaneal tendon	UBERON:0003701	83.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.95	gold quality
adenohypophysis	UBERON:0002196	79.21	gold quality
nasal cavity epithelium	UBERON:0005384	78.94	gold quality
endocervix	UBERON:0000458	77.97	gold quality
ganglionic eminence	UBERON:0004023	77.70	gold quality
islet of Langerhans	UBERON:0000006	77.63	gold quality
pituitary gland	UBERON:0000007	77.18	gold quality
right adrenal gland	UBERON:0001233	75.69	gold quality
cauda epididymis	UBERON:0004360	75.30	gold quality
nasal cavity mucosa	UBERON:0001826	75.23	gold quality
trachea	UBERON:0003126	75.17	gold quality
stromal cell of endometrium	CL:0002255	75.04	gold quality
left adrenal gland cortex	UBERON:0035825	74.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-114	yes	483.20
E-MTAB-9388	yes	7.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting CFAP300, 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-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-518A-5P	99.70	69.01	2209
HSA-MIR-527	99.70	69.01	2209
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-12117	99.50	67.57	868
HSA-MIR-21-5P	99.46	70.54	1035

Literature-anchored findings (GeneRIF, showing 2)

• C11orf70 is essential for assembly of dynein arms and C11orf70 mutations cause defective cilia motility and Primary ciliary dyskinesia. (PMID:29727692)
• C11orf70 is a preassembly factor involved in the pathogenesis of Primary ciliary dyskinesia. (PMID:29727693)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap300	ENSDARG00000000349
mus_musculus	Cfap300	ENSMUSG00000053070
rattus_norvegicus	Cfap300	ENSRNOG00000043410

Protein

Protein identifiers

Cilia- and flagella-associated protein 300 — Q9BRQ4 (reviewed: Q9BRQ4)

All UniProt accessions (3): Q9BRQ4, E9PM77, H0YCT8

UniProt curated annotations — full annotation on UniProt →

Function. Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility. May play a role in outer and inner dynein arm assembly.

Subunit / interactions. Interacts with DNAAF2.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme.

Tissue specificity. Expressed in nasal epithelial cells.

Disease relevance. Ciliary dyskinesia, primary, 38 (CILD38) [MIM:618063] 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. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Induction. Up-regulated during ciliogenesis.

Similarity. Belongs to the CFAP300 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9BRQ4-1	1	yes
Q9BRQ4-2	2
Q9BRQ4-3	3

RefSeq proteins (3): NP_001181934, NP_001350434, NP_116319* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029416	CFAP300	Family

Pfam: PF14926

UniProt features (9 total): sequence variant 4, splice variant 3, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BRQ4-F1	94.21	0.92

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): chr11q22, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOCC_CYTOPLASMIC_REGION, NUYTTEN_EZH2_TARGETS_DN, GOCC_MOTILE_CILIUM, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, ZNF257_TARGET_GENES, MIR3646, MIR10527_5P, MIR4307, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_2, MIR6508_5P, MIR380_3P

GO Biological Process (0):

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

GO Cellular Component (5): cytoplasm (GO:0005737), axoneme (GO:0005930), motile cilium (GO:0031514), cytoskeleton (GO:0005856), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	1
intracellular anatomical structure	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

716 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP300	CFAP298	P57076	735
CFAP300	DNAAF5	Q86Y56	693
CFAP300	DNAAF6	Q9NQM4	672
CFAP300	DNAAF3	Q8N9W5	659
CFAP300	DNAAF11	Q86X45	633
CFAP300	SPAG1	Q07617	627
CFAP300	DNAAF1	Q8NEP3	614
CFAP300	PIH1D2	Q8WWB5	591
CFAP300	DNAAF19	Q8IW40	587
CFAP300	ZMYND10	O75800	582
CFAP300	DNAAF2	Q9NVR5	582
CFAP300	DNAAF4	Q8WXU2	577
CFAP300	TTC12	Q9H892	575
CFAP300	LRRC56	Q8IYG6	569
CFAP300	DNAAF10	Q96MX6	542
CFAP300	DNALI1	O14645	542

IntAct

7 interactions, top by confidence:

A	B	Type	Score
CFAP300	H4C16	psi-mi:“MI:0915”(physical association)	0.400
CFAP300	H2AC12	psi-mi:“MI:0915”(physical association)	0.400
CFAP300	ACTA2	psi-mi:“MI:0915”(physical association)	0.400
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (14): C11orf70 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), TPM2 (Affinity Capture-MS), TAB1 (Affinity Capture-MS), TPM2 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), C11orf70 (Biochemical Activity), C11orf70 (Proximity Label-MS), C11orf70 (Proximity Label-MS), C11orf70 (Affinity Capture-RNA), ACTA2 (Affinity Capture-MS), C11orf70 (Affinity Capture-MS), C11orf70 (Affinity Capture-MS), C11orf70 (Affinity Capture-MS)

ESM2 similar proteins: A5D9C6, A8IYS6, B3MJV4, B4GH42, B4MV81, B4Q9T2, B5E0H4, F1QJX5, O08576, O14109, O60268, P43125, P69735, Q08E29, Q17QK1, Q2HJH8, Q3B7K9, Q3V0G7, Q54Y76, Q59EK9, Q5I0R4, Q5R565, Q5U430, Q5VVW2, Q5XHG1, Q5XIH0, Q68FQ4, Q6NUV0, Q6P7D5, Q6PDC0, Q6PFJ7, Q6PGU2, Q6ZPR5, Q6ZT12, Q757K3, Q7ZWL6, Q8AWD1, Q8BPQ7, Q8CC70, Q8R0A7

Diamond homologs: A0CY51, A8IYS6, Q2HJH8, Q5I0R4, Q68FQ4, Q8CC70, Q9BRQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	6
Uncertain significance	29
Likely benign	58
Benign	12

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1065351	NM_032930.3(CFAP300):c.693_694insGA (p.Tyr232fs)	Pathogenic
1681441	NC_000011.9:g.(?101918202)(101918647_?)del	Pathogenic
1956807	NM_032930.3(CFAP300):c.289G>T (p.Glu97Ter)	Pathogenic
1970143	NM_032930.3(CFAP300):c.613C>T (p.Arg205Ter)	Pathogenic
2719579	NM_032930.3(CFAP300):c.478C>T (p.Gln160Ter)	Pathogenic
2885787	NM_032930.3(CFAP300):c.313C>T (p.Gln105Ter)	Pathogenic
3620171	NM_032930.3(CFAP300):c.487A>T (p.Arg163Ter)	Pathogenic
3727792	NM_032930.3(CFAP300):c.183_192+10del	Pathogenic
549859	NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	Pathogenic
549860	NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)	Pathogenic
549861	NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	Pathogenic
549862	NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	Pathogenic
807552	NM_032930.3(CFAP300):c.200del (p.Phe67fs)	Pathogenic
2785963	NM_032930.3(CFAP300):c.110+1G>T	Likely pathogenic
2893018	NM_032930.3(CFAP300):c.435+4A>G	Likely pathogenic
3013949	NM_032930.3(CFAP300):c.675+5G>A	Likely pathogenic
3024078	NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)	Likely pathogenic
3340161	NM_032930.3(CFAP300):c.353A>G (p.Asp118Gly)	Likely pathogenic
3354718	NM_032930.3(CFAP300):c.786_787insATAACACTGTTATGGT (p.Val263fs)	Likely pathogenic

SpliceAI

927 predictions. Top by Δscore:

Variant	Effect	Δscore
11:102047578:GTG:G	donor_gain	1.0000
11:102047724:G:T	donor_gain	1.0000
11:102047878:G:GT	donor_gain	1.0000
11:102047897:GTT:G	donor_loss	1.0000
11:102047898:T:A	donor_loss	1.0000
11:102048179:A:G	donor_gain	1.0000
11:102066650:GA:G	donor_gain	1.0000
11:102066652:G:GG	donor_gain	1.0000
11:102081213:A:AG	acceptor_gain	1.0000
11:102081214:G:GG	acceptor_gain	1.0000
11:102081282:G:GG	donor_gain	1.0000
11:102047600:G:GT	donor_gain	0.9900
11:102047724:G:GT	donor_gain	0.9900
11:102047728:G:GT	donor_gain	0.9900
11:102047882:G:GT	donor_gain	0.9900
11:102047897:G:GG	donor_gain	0.9900
11:102066647:GAAGA:G	donor_gain	0.9900
11:102081214:GT:G	acceptor_gain	0.9900
11:102047581:G:GG	donor_gain	0.9800
11:102047679:C:G	donor_gain	0.9800
11:102047700:C:CG	donor_gain	0.9800
11:102047725:A:T	donor_gain	0.9800
11:102047809:CCCCA:C	acceptor_loss	0.9800
11:102047813:A:AT	acceptor_loss	0.9800
11:102047892:TTATG:T	donor_gain	0.9800
11:102047899:TAGT:T	donor_loss	0.9800
11:102047900:AGTA:A	donor_loss	0.9800
11:102058472:G:GT	donor_gain	0.9800
11:102058870:T:A	acceptor_loss	0.9800
11:102058874:TTTTA:T	acceptor_loss	0.9800

AlphaMissense

1761 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:102047579:T:A	W37R	0.997
11:102047579:T:C	W37R	0.997
11:102047815:G:C	W37C	0.993
11:102047815:G:T	W37C	0.993
11:102075967:G:A	G177D	0.991
11:102075967:G:T	G177V	0.991
11:102047816:T:C	S38P	0.990
11:102066644:T:C	L143S	0.990
11:102076029:T:G	Y198D	0.990
11:102047580:G:C	W37S	0.989
11:102047846:T:C	F48L	0.989
11:102047848:C:A	F48L	0.989
11:102047848:C:G	F48L	0.989
11:102066647:G:C	R144P	0.989
11:102076039:T:C	L201P	0.989
11:102081262:T:A	V219D	0.989
11:102081271:T:A	V222D	0.989
11:102081217:T:A	V204D	0.988
11:102047852:T:C	F50L	0.987
11:102047854:T:A	F50L	0.987
11:102047854:T:G	F50L	0.987
11:102075966:G:C	G177R	0.986
11:102076005:T:G	Y190D	0.986
11:102083125:T:G	Y244D	0.986
11:102075970:G:A	G178E	0.985
11:102066637:G:C	D141H	0.983
11:102083089:T:G	Y232D	0.983
11:102075966:G:T	G177C	0.982
11:102075970:G:T	G178V	0.982
11:102075934:T:C	F166S	0.981

dbSNP variants (sampled 300 via entrez): RS1000104883 (11:102065263 A>G), RS1000161701 (11:102055741 T>C), RS1000278527 (11:102050679 G>T), RS1000328426 (11:102072638 A>T), RS1000411439 (11:102084227 G>T), RS1000526976 (11:102070110 A>G), RS1000614696 (11:102057231 C>T), RS1000657840 (11:102060147 T>A), RS1000682600 (11:102063810 C>A,T), RS1000779013 (11:102053751 T>C), RS1000830134 (11:102080041 G>A), RS1000902123 (11:102079620 T>C), RS1000947860 (11:102076663 A>G), RS1000987588 (11:102060452 A>G,T), RS1001047759 (11:102067114 T>G)

Disease associations

OMIM: gene MIM:618058 | disease phenotypes: MIM:618063, MIM:244400

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 38	Definitive	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 38	Definitive	AR

Mondo (2): ciliary dyskinesia, primary, 38 (MONDO:0054843), primary ciliary dyskinesia (MONDO:0016575)

Orphanet (2): Situs ambiguus (Orphanet:157769), Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

55 total (30 of 55 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:0000789	Infertility
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001651	Dextrocardia
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:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003623	Neonatal onset
HP:0005301	Persistent left superior vena cava

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003264_828	Post bronchodilator FEV1/FVC ratio	9.000000e-07
GCST007324_123	Adventurousness	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004713	FEV/FVC ratio
EFO:0008579	risk-taking behaviour

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

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
Valproic Acid	affects cotreatment, increases expression, affects expression	8
mercuric bromide	decreases expression, affects cotreatment	2
Arsenic	increases abundance, increases methylation, decreases expression	2
methylmercuric chloride	decreases expression	1
propionaldehyde	increases expression	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	increases expression	1
3,4-dichloroaniline	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
Temozolomide	increases expression	1
Vorinostat	increases expression, affects cotreatment	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cannabidiol	increases expression	1
Dimethyl Sulfoxide	affects expression	1
Diuron	decreases expression	1
Estradiol	affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Perfume	increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Smoke	increases abundance, increases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tunicamycin	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)