CCDC51

Summary

CCDC51 (coiled-coil domain containing 51, HGNC:25714) is a protein-coding gene on chromosome 3p21.31, encoding Mitochondrial potassium channel (Q96ER9). Pore-forming subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)). It is a selective cancer dependency (DepMap: 12.5% of cell lines).

Enables mitochondrial ATP-gated potassium channel activity. Involved in cell volume homeostasis and mitochondrial potassium ion transmembrane transport. Located in mitochondrial inner membrane. Part of mitochondrial ATP-gated potassium channel complex.

Source: NCBI Gene 79714 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 89 total
• Phenotypes (HPO): 1
• Cancer dependency (DepMap): dependent in 12.5% of screened cell lines
• MANE Select transcript: NM_001256964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25714
Approved symbol	CCDC51
Name	coiled-coil domain containing 51
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12436, MITOK
Ensembl gene	ENSG00000164051
Ensembl biotype	protein_coding
OMIM	618585
Entrez	79714

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 21 protein_coding

ENST00000395694, ENST00000412398, ENST00000438370, ENST00000442740, ENST00000446140, ENST00000447018, ENST00000869046, ENST00000869047, ENST00000869048, ENST00000869049, ENST00000938991, ENST00000938992, ENST00000938993, ENST00000938994, ENST00000938995, ENST00000938996, ENST00000938997, ENST00000938998, ENST00000938999, ENST00000939000, ENST00000955195

RefSeq mRNA: 7 — MANE Select: NM_001256964 NM_001256964, NM_001256965, NM_001256966, NM_001256967, NM_001256968, NM_001256969, NM_024661

CCDS: CCDS2766, CCDS58830

Canonical transcript exons

ENST00000395694 — 4 exons

Exon	Start	End
ENSE00001205979	48434817	48435136
ENSE00001692576	48439988	48440119
ENSE00003784509	48433707	48433871
ENSE00003848956	48432173	48433166

Expression profiles

Bgee: expression breadth ubiquitous, 234 present calls, max score 93.05.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.5941 / max 68.3181, expressed in 1714 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42118	3.7453	1547
42119	2.2264	1377
42117	0.4194	208
42116	0.2030	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	93.05	gold quality
cervix squamous epithelium	UBERON:0006922	88.01	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.95	gold quality
gluteal muscle	UBERON:0002000	86.90	silver quality
pancreatic ductal cell	CL:0002079	86.38	silver quality
nephron tubule	UBERON:0001231	86.36	gold quality
squamous epithelium	UBERON:0006914	86.33	silver quality
esophagus squamous epithelium	UBERON:0006920	86.29	gold quality
choroid plexus epithelium	UBERON:0003911	86.17	gold quality
middle temporal gyrus	UBERON:0002771	86.07	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.81	gold quality
epithelium of esophagus	UBERON:0001976	85.72	gold quality
apex of heart	UBERON:0002098	85.32	gold quality
gingival epithelium	UBERON:0001949	85.15	silver quality
mucosa of transverse colon	UBERON:0004991	85.15	gold quality
amniotic fluid	UBERON:0000173	84.96	gold quality
right adrenal gland	UBERON:0001233	84.92	gold quality
right adrenal gland cortex	UBERON:0035827	84.35	gold quality
renal glomerulus	UBERON:0000074	84.22	gold quality
lateral nuclear group of thalamus	UBERON:0002736	83.93	silver quality
metanephric glomerulus	UBERON:0004736	83.91	gold quality
heart right ventricle	UBERON:0002080	83.70	gold quality
gingiva	UBERON:0001828	83.69	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	83.66	silver quality
kidney epithelium	UBERON:0004819	83.61	silver quality
left adrenal gland	UBERON:0001234	83.59	gold quality
deltoid	UBERON:0001476	83.59	silver quality
tongue squamous epithelium	UBERON:0006919	83.13	silver quality
rectum	UBERON:0001052	82.96	gold quality
left adrenal gland cortex	UBERON:0035825	82.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting CCDC51, 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-5692A	100.00	74.40	6850
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-1912-5P	97.94	67.98	832
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-585-5P	97.54	69.02	955

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 12.5% of screened cell lines.

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccdc51	ENSMUSG00000025645
rattus_norvegicus	Ccdc51	ENSRNOG00000020688

Protein

Protein identifiers

Mitochondrial potassium channel — Q96ER9 (reviewed: Q96ER9)

Alternative names: Coiled-coil domain-containing protein 51

All UniProt accessions (3): C9JPZ8, C9JSW8, Q96ER9

UniProt curated annotations — full annotation on UniProt →

Function. Pore-forming subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)). Together with ATP-binding subunit ABCB8/MITOSUR of the mitoK(ATP) channel, mediates ATP-dependent K(+) currents across the mitochondrial inner membrane. An increase in ATP intracellular levels closes the channel, inhibiting K(+) transport, whereas a decrease in ATP levels enhances K(+) uptake in the mitochondrial matrix. May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume.

Subunit / interactions. The mitochondrial potassium channel (mitoK(ATP)) is composed of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR. Interacts with MUL1/MAPL.

Subcellular location. Mitochondrion inner membrane Mitochondrion inner membrane.

Tissue specificity. Isoform 1: Widely expressed. Isoform 2: Expression is barely detectable.

Activity regulation. Channel activity inhibited by ATP via ABCB8/MITOSUR subunit.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96ER9-1	1	yes
Q96ER9-2	2

RefSeq proteins (7): NP_001243893, NP_001243894, NP_001243895, NP_001243896, NP_001243897, NP_001243898, NP_078937 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR037660	CCDC51	Family

Catalyzed reactions (Rhea), 1 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)

UniProt features (12 total): topological domain 3, transmembrane region 2, transit peptide 1, chain 1, splice variant 1, sequence variant 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96ER9-F1	70.21	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 129 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, MODULE_205, GOBP_REGULATION_OF_CELL_SIZE, GOCC_MITOCHONDRIAL_ENVELOPE, RYTTCCTG_ETS2_B, GOBP_CELL_VOLUME_HOMEOSTASIS, ACEVEDO_LIVER_CANCER_UP, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_POTASSIUM_CHANNEL_COMPLEX, GOCC_ORGANELLE_INNER_MEMBRANE, GOBP_HOMEOSTATIC_PROCESS

GO Biological Process (6): cell volume homeostasis (GO:0006884), potassium ion transmembrane transport (GO:0071805), mitochondrial potassium ion transmembrane transport (GO:0140141), monoatomic ion transport (GO:0006811), potassium ion transport (GO:0006813), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (3): mitochondrial ATP-gated potassium channel activity (GO:0062156), potassium channel activity (GO:0005267), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial ATP-gated potassium channel complex (GO:0062157), membrane (GO:0016020), potassium channel complex (GO:0034705)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cell size	1
cellular homeostasis	1
potassium ion transport	1
monoatomic cation transmembrane transport	1
potassium ion transmembrane transport	1
transport	1
metal ion transport	1
monoatomic ion transport	1
transmembrane transport	1
potassium channel activity	1
ATP-gated ion channel activity	1
ligand-gated monoatomic cation channel activity	1
monoatomic cation channel activity	1
potassium ion transmembrane transporter activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
potassium channel complex	1
cellular anatomical structure	1
cation channel complex	1

Protein interactions and networks

STRING

462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCDC51	ABCB8	Q9NUT2	930
CCDC51	ZNF541	Q9H0D2	534
CCDC51	ARHGAP23	Q9P227	508
CCDC51	KCNA3	P22001	505
CCDC51	ZNF226	Q9NYT6	480
CCDC51	P4HA2	O15460	451
CCDC51	ABCB5	Q2M3G0	437
CCDC51	APOH	P02749	436
CCDC51	IFT140	Q96RY7	425
CCDC51	ANXA2	P07355	421
CCDC51	PARK7	Q99497	416
CCDC51	AHSG	P02765	414
CCDC51	DSG1	Q02413	411
CCDC51	HSPA5	P11021	409
CCDC51	APOA1	P02647	403

IntAct

67 interactions, top by confidence:

A	B	Type	Score
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
SCAND1	CCDC51	psi-mi:“MI:0915”(physical association)	0.560
SNRNP27	UBA6	psi-mi:“MI:0914”(association)	0.530
CCDC51	TGM5	psi-mi:“MI:0914”(association)	0.530
TMEM31	PSMD11	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
IL1R2	EXOC5	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
ABCB8	CCDC51	psi-mi:“MI:0915”(physical association)	0.520
MAEA	HTRA2	psi-mi:“MI:0914”(association)	0.510
WDFY2	U2SURP	psi-mi:“MI:0914”(association)	0.350
PCDH20		psi-mi:“MI:0914”(association)	0.350
IL1R2	QSOX1	psi-mi:“MI:0914”(association)	0.350
PTPRN	SGSM2	psi-mi:“MI:0914”(association)	0.350
CEACAM21	MET	psi-mi:“MI:0914”(association)	0.350
COQ9	NDUFS8	psi-mi:“MI:0914”(association)	0.350
COQ9	ACOT7	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
rep	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CACNG1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
C11orf87	KLRG2	psi-mi:“MI:0914”(association)	0.350
IL7R	FAM171A2	psi-mi:“MI:0914”(association)	0.350
MPL	FAM171A2	psi-mi:“MI:0914”(association)	0.350

BioGRID (129): CCDC51 (Affinity Capture-RNA), CCDC51 (Affinity Capture-RNA), CCDC51 (Affinity Capture-MS), JUP (Affinity Capture-MS), NEFH (Affinity Capture-MS), TGM1 (Affinity Capture-MS), IGHG1 (Affinity Capture-MS), ARG1 (Affinity Capture-MS), TGM3 (Affinity Capture-MS), POF1B (Affinity Capture-MS), FABP5 (Affinity Capture-MS), GM2A (Affinity Capture-MS), CPA4 (Affinity Capture-MS), PKP1 (Affinity Capture-MS), CDSN (Affinity Capture-MS)

ESM2 similar proteins: A0PJW6, A1L1J9, A4FV45, A8MXQ7, F1MX48, O00411, P70606, Q05B52, Q05B66, Q0VCA3, Q16611, Q1JQC5, Q1L9A2, Q2VPK5, Q3B8B2, Q3SX05, Q3SYU1, Q3TYL0, Q3URS9, Q4R5Q4, Q505D7, Q5E9Q3, Q5PPN7, Q5R6Z1, Q5RAS8, Q5RJV0, Q5T1A1, Q641S2, Q643R3, Q66LN0, Q6NUQ4, Q6NVG1, Q6P6S4, Q86VI3, Q8BKF1, Q8BWM0, Q8C3X8, Q8N0W3, Q92843, Q92952

Diamond homologs: Q3URS9, Q5E9Q3, Q5PPN7, Q96ER9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	2
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

687 predictions. Top by Δscore:

Variant	Effect	Δscore
3:48433163:CCTC:C	acceptor_gain	1.0000
3:48433164:CTC:C	acceptor_gain	1.0000
3:48433164:CTCC:C	acceptor_gain	1.0000
3:48433165:TCCT:T	acceptor_gain	1.0000
3:48433165:TCCTG:T	acceptor_loss	1.0000
3:48433166:CCTG:C	acceptor_loss	1.0000
3:48433167:C:CA	acceptor_loss	1.0000
3:48433167:C:CC	acceptor_gain	1.0000
3:48433701:GCCTA:G	donor_loss	1.0000
3:48433702:CCTA:C	donor_loss	1.0000
3:48433703:CTACC:C	donor_loss	1.0000
3:48433704:TACCT:T	donor_loss	1.0000
3:48433705:AC:A	donor_loss	1.0000
3:48433706:C:A	donor_loss	1.0000
3:48433868:CAGC:C	acceptor_gain	1.0000
3:48433869:AGCC:A	acceptor_loss	1.0000
3:48433870:GCCT:G	acceptor_loss	1.0000
3:48433872:C:CC	acceptor_gain	1.0000
3:48433873:T:G	acceptor_loss	1.0000
3:48440310:AAGGT:A	donor_loss	1.0000
3:48440311:AGGT:A	donor_loss	1.0000
3:48440312:GGTA:G	donor_loss	1.0000
3:48440313:G:GG	donor_gain	1.0000
3:48440313:GTAA:G	donor_loss	1.0000
3:48440314:T:G	donor_loss	1.0000
3:48440455:CGAGG:C	donor_loss	1.0000
3:48440456:GAGGT:G	donor_loss	1.0000
3:48433162:TCCTC:T	acceptor_gain	0.9900
3:48433163:CCTCC:C	acceptor_gain	0.9900
3:48433165:TC:T	acceptor_gain	0.9900

AlphaMissense

2651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:48433107:G:C	F179L	0.997
3:48433107:G:T	F179L	0.997
3:48433109:A:G	F179L	0.997
3:48433024:C:T	G207D	0.994
3:48433063:C:G	R194P	0.994
3:48433732:G:T	A151D	0.993
3:48433871:C:G	A105P	0.993
3:48432991:C:T	G218D	0.992
3:48433000:C:T	G215D	0.992
3:48433037:A:G	W203R	0.991
3:48433037:A:T	W203R	0.991
3:48433077:A:C	S189R	0.991
3:48433077:A:T	S189R	0.991
3:48433079:T:G	S189R	0.991
3:48433108:A:C	F179C	0.990
3:48433055:C:G	A197P	0.989
3:48433084:C:G	R187P	0.989
3:48433091:C:G	A185P	0.989
3:48434837:C:G	A98P	0.989
3:48432955:A:G	L230P	0.988
3:48433041:C:A	K201N	0.988
3:48433041:C:G	K201N	0.988
3:48433741:A:G	L148S	0.988
3:48433117:C:G	R176P	0.987
3:48433108:A:G	F179S	0.986
3:48433099:A:G	F182S	0.985
3:48433735:A:G	L150P	0.985
3:48433744:T:C	Y147C	0.985
3:48433009:G:T	A212D	0.984
3:48433012:C:T	G211E	0.984

dbSNP variants (sampled 300 via entrez): RS1000190732 (3:48447040 C>A,T), RS1000260863 (3:48441221 T>C), RS1000335407 (3:48441432 C>T), RS1000435962 (3:48435782 A>G), RS1000591725 (3:48442585 G>A,T), RS1000666637 (3:48442715 G>C), RS1000824087 (3:48437140 C>G,T), RS1000890043 (3:48435360 T>C), RS1001453941 (3:48438988 C>T), RS1001765642 (3:48432443 G>A,C), RS1001941670 (3:48443348 G>C), RS1002163260 (3:48448038 T>C), RS1002334913 (3:48443957 C>G,T), RS1002381045 (3:48442991 G>C,T), RS1002428878 (3:48437703 C>G)

Disease associations

OMIM: gene MIM:618585 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): inherited retinal dystrophy (MONDO:0019118)

Orphanet (1): OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000556	Retinal dystrophy

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004131_23	Inflammatory bowel disease	1.000000e-33
GCST004132_17	Crohn’s disease	3.000000e-23
GCST004133_11	Ulcerative colitis	8.000000e-20
GCST010698_80	Subcortical volume (min-P)	3.000000e-24
GCST010699_110	Brain morphology (min-P)	4.000000e-08
GCST010701_52	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_36	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_262	Brain morphology (MOSTest)	2.000000e-13
GCST90002402_307	Platelet count	1.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression, decreases expression	3
bisphenol A	decreases expression, decreases methylation	2
Acetaminophen	decreases expression, increases expression	2
Benzo(a)pyrene	increases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
Particulate Matter	decreases expression, decreases reaction, increases abundance	2
aristolochic acid I	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression, decreases reaction	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Adenine	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases expression, decreases reaction	1
Cadmium	increases abundance, increases expression	1
Colchicine	decreases expression	1
Coumestrol	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Etoposide	decreases expression	1
Formaldehyde	decreases expression	1
Hydroxyurea	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Rotenone	increases expression	1
Thiram	decreases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SH20	HAP1 CCDC51 (-) 1	Cancer cell line	Male
CVCL_XM47	HAP1 CCDC51 (-) 2	Cancer cell line	Male
CVCL_XM48	HAP1 CCDC51 (-) 3	Cancer cell line	Male
CVCL_XM49	HAP1 CCDC51 (-) 4	Cancer cell line	Male
CVCL_XM50	HAP1 CCDC51 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT03763227	PHASE2	COMPLETED	Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy
NCT04068207	PHASE2	COMPLETED	Minocycline Treatment in Retinitis Pigmentosa
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05902962	PHASE1	COMPLETED	SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects
NCT06319872	PHASE1	RECRUITING	The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04123626	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT06212297	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Fellow-eye Study (FE) of LX101 in Subjects With Inherited Retinal Dystrophy
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT07177196	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Personalized Antisense Oligonucleotide Therapy for a Single Participant With PRPH2 Mutation Associated With Retinal Dystrophy
NCT07063030	EARLY_PHASE1	RECRUITING	A Study of LX107 Gene Therapy in AIPL1-IRD Patients
NCT01546181	Not specified	COMPLETED	Retinal Imaging by Adaptive Optics in Healthy Eyes and During Retinal and General Diseases
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NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
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NCT03592017	Not specified	COMPLETED	Performance of Long-wavelength Autofluorescence Imaging
NCT03662386	Not specified	TERMINATED	Prospective Analysis of Genotype-phenotype Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
NCT03691168	Not specified	UNKNOWN	Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies
NCT03843840	Not specified	COMPLETED	Dual Wavelength OCT
NCT03853252	Not specified	COMPLETED	iPS Cells of Patients for Models of Retinal Dystrophies
NCT05130385	Not specified	UNKNOWN	High Resolution Optical Coherence Tomography
NCT05294978	Not specified	RECRUITING	EyeConic: Qualification for Cone-Optogenetics
NCT05573984	Not specified	ACTIVE_NOT_RECRUITING	Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
NCT05793515	Not specified	COMPLETED	Mechanisms of Inherited Retinal Dystrophies Using Whole Genome Sequencing and in Vitro and in Vivo Models
NCT05820100	Not specified	COMPLETED	Observational Study to Assess the Reliability and Validity of the MLYMT and MLSDT
NCT05976139	Not specified	RECRUITING	Micropulsed Laser in Patients With Macular Oedema in Retinal Dystrophies
NCT06162585	Not specified	ACTIVE_NOT_RECRUITING	Non-Interventional Long Term Follow-up Study of Participants Previously Enrolled in the RESTORE Study
NCT06177977	Not specified	RECRUITING	SS-HH-OCT as a Novel Diagnostic Modality for Early-Onset Retinal Dystrophies (EORDs)
NCT06375239	Not specified	RECRUITING	Observational Study to Assess Endpoint Operational Feasibility & Measurement Properties in Patients with Retinal Degeneration
NCT06908161	Not specified	NOT_YET_RECRUITING	Functional Assessments in Vision Impairment
NCT07085533	Not specified	RECRUITING	Natural History Study of Inherited Retinal Diseases
NCT07502664	Not specified	RECRUITING	Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
NCT07529041	Not specified	ENROLLING_BY_INVITATION	Real-time Acoustic Biofeedback for Enhancing Fixation Stability: A Proof-of-concept Study to Improve Ophthalmic Imaging Diagnostic Quality