RLIG1

Summary

RLIG1 (RNA 5’-phosphate and 3’-OH ligase 1, HGNC:25322) is a protein-coding gene on chromosome 12q21.32, encoding RNA ligase 1 (Q8N999). Functions as an RNA ligase, in vitro.

Enables RNA ligase (ATP) activity. Involved in response to reactive oxygen species.

Source: NCBI Gene 91298 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 25 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 2
• MANE Select transcript: NM_001009894

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25322
Approved symbol	RLIG1
Name	RNA 5’-phosphate and 3’-OH ligase 1
Location	12q21.32
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434N2030
Ensembl gene	ENSG00000133641
Ensembl biotype	protein_coding
Entrez	91298

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 7 protein_coding, 4 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000356891, ENST00000453037, ENST00000547468, ENST00000548511, ENST00000548757, ENST00000549345, ENST00000550333, ENST00000552121, ENST00000552803, ENST00000552847, ENST00000886520, ENST00000886521, ENST00000940662, ENST00000940663, ENST00000948568, ENST00000948569

RefSeq mRNA: 1 — MANE Select: NM_001009894 NM_001009894

CCDS: CCDS31866

Canonical transcript exons

ENST00000356891 — 7 exons

Exon	Start	End
ENSE00002334441	88048234	88050160
ENSE00002374024	88035536	88035738
ENSE00003514375	88042825	88042920
ENSE00003549820	88045582	88045779
ENSE00003588631	88046807	88046976
ENSE00003629351	88043599	88043715
ENSE00003644047	88040148	88040265

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 95.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4316 / max 325.6449, expressed in 1813 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127201	16.8397	1801
127200	6.3388	1674
127202	0.2446	67
127203	0.0084	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	95.75	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.43	gold quality
oocyte	CL:0000023	93.67	gold quality
upper leg skin	UBERON:0004262	93.62	gold quality
oral cavity	UBERON:0000167	92.98	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.60	gold quality
palpebral conjunctiva	UBERON:0001812	92.46	gold quality
secondary oocyte	CL:0000655	92.25	gold quality
penis	UBERON:0000989	92.15	gold quality
entorhinal cortex	UBERON:0002728	92.15	gold quality
cranial nerve II	UBERON:0000941	92.02	gold quality
skin of hip	UBERON:0001554	91.66	gold quality
corpus epididymis	UBERON:0004359	91.29	gold quality
amniotic fluid	UBERON:0000173	91.21	gold quality
hair follicle	UBERON:0002073	91.18	gold quality
gingiva	UBERON:0001828	91.12	gold quality
gingival epithelium	UBERON:0001949	91.04	gold quality
occipital lobe	UBERON:0002021	91.02	gold quality
middle temporal gyrus	UBERON:0002771	90.87	gold quality
parietal lobe	UBERON:0001872	90.80	gold quality
lateral globus pallidus	UBERON:0002476	90.79	gold quality
primary visual cortex	UBERON:0002436	90.72	gold quality
pharyngeal mucosa	UBERON:0000355	90.57	gold quality
inferior vagus X ganglion	UBERON:0005363	90.56	gold quality
seminal vesicle	UBERON:0000998	90.48	gold quality
substantia nigra pars compacta	UBERON:0001965	90.46	gold quality
postcentral gyrus	UBERON:0002581	90.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.35	gold quality
esophagus mucosa	UBERON:0002469	90.35	gold quality
superior frontal gyrus	UBERON:0002661	90.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

106 targeting RLIG1, 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-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-186-5P	99.99	70.83	3707
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-4789-5P	99.98	70.76	2721
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-153-5P	99.89	73.86	6317

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rlig1	ENSDARG00000045785
mus_musculus	Rlig1	ENSMUSG00000046567
rattus_norvegicus	Rlig1	ENSRNOG00000006973

Protein

Protein identifiers

RNA ligase 1 — Q8N999 (reviewed: Q8N999)

Alternative names: RNA ligase

All UniProt accessions (2): G3V1X7, Q8N999

UniProt curated annotations — full annotation on UniProt →

Function. Functions as an RNA ligase, in vitro. The ligation reaction entails three nucleotidyl transfer steps. In the first step, the RNA ligase reacts with ATP in the absence of nucleic acid to form a covalent ligase-AMP intermediate and release pyrophosphate. In step 2, the ligase-AMP binds to the nucleic acid and transfers the adenylate to the 5’-PO4 terminus to form an adenylylated intermediate. In step 3, the RNA ligase directs the attack of the 3’-OH on the 5’-phosphoanhydride linkage, resulting in a repaired 3’-5’ phosphodiester and release of AMP. Exhibits selectivity for single-stranded RNA substrates and may not have nick-sealing activity on double-stranded DNA-RNA hybrids. May play a role in maintaining RNA integrity under stress conditions, for example in response to reactive oxygen species (ROS).

Post-translational modifications. AMPylates itself (auto-AMPylation).

Isoforms (3)

UniProt ID	Names	Canonical?
Q8N999-1	1	yes
Q8N999-2	2
Q8N999-3	3

RefSeq proteins (1): NP_001009894* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR041211	RLIG1	Family

Pfam: PF17720

UniProt features (17 total): mutagenesis site 9, splice variant 4, sequence variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N999-F1	92.03	0.76

Functional residue map

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

Mutagenesis-validated functional residues (9):

Position	Phenotype
77	reduces rna ligation activity to about 12%, in vitro.
123	has no effect on rna ligation activity, in vitro.
250	abolishes rna ligation activity, in vitro.
263	abolishes rna ligation activity, in vitro.
55	abolishes rna ligation activity, in vitro.
57	deficient in auto-ampylation activity, in vitro. abolishes rna ligation activity, in vitro.
59	abolishes rna ligation activity, in vitro.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 128 (showing top): GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, YAGI_AML_WITH_INV_16_TRANSLOCATION, WEI_MYCN_TARGETS_WITH_E_BOX, chr12q21, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_REACTIVE_OXYGEN_SPECIES, GOMF_ADENYL_NUCLEOTIDE_BINDING, ATGAAGG_MIR205, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, CHYLA_CBFA2T3_TARGETS_DN, BRUINS_UVC_RESPONSE_EARLY_LATE, GOMF_LIGASE_ACTIVITY_FORMING_PHOSPHORIC_ESTER_BONDS, GOMF_CATALYTIC_ACTIVITY_ACTING_ON_RNA, ARNT2_TARGET_GENES, CBX7_TARGET_GENES

GO Biological Process (3): response to reactive oxygen species (GO:0000302), hematopoietic progenitor cell differentiation (GO:0002244), RNA repair (GO:0042245)

GO Molecular Function (4): RNA ligase (ATP) activity (GO:0003972), ATP binding (GO:0005524), nucleotide binding (GO:0000166), ligase activity (GO:0016874)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to oxidative stress	1
response to oxygen-containing compound	1
hemopoiesis	1
cell differentiation	1
RNA metabolic process	1
RNA ligase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
catalytic activity	1

Protein interactions and networks

STRING

484 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RLIG1	ZC3H11D	Q8NA57	605
RLIG1	ZNF644	Q9H582	509
RLIG1	C15orf40	Q8WUR7	480
RLIG1	SLCO5A1	Q9H2Y9	478
RLIG1	COMMD8	Q9NX08	430
RLIG1	TOR4A	Q9NXH8	410
RLIG1	TMEM120B	A0PK00	409
RLIG1	BRAT1	Q6PJG6	405
RLIG1	FYTTD1	Q96QD9	394
RLIG1	RHEX	Q6ZWK4	391
RLIG1	PRORP	O15091	375
RLIG1	RCAN2	Q14206	375
RLIG1	SEZ6	Q53EL9	368
RLIG1	METTL25	Q8N6Q8	353
RLIG1	LAMC2	Q13753	352
RLIG1	SLC6A15	Q9H2J7	352

IntAct

6 interactions, top by confidence:

A	B	Type	Score
RLIG1	NCL	psi-mi:“MI:0915”(physical association)	0.400
LRRK2		psi-mi:“MI:0914”(association)	0.350
KIAA1191	UBA6	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (16): C12orf29 (Affinity Capture-MS), C12orf29 (Affinity Capture-MS), C12orf29 (Proximity Label-MS), C12orf29 (Proximity Label-MS), C12orf29 (Affinity Capture-MS), C12orf29 (Co-fractionation), C12orf29 (Affinity Capture-MS), C12orf29 (Affinity Capture-MS), C12orf29 (Proximity Label-MS), C12orf29 (Affinity Capture-MS), C12orf29 (Affinity Capture-RNA), C12orf29 (Proximity Label-MS), C12orf29 (Proximity Label-MS), C12orf29 (Proximity Label-MS), C12orf29 (Proximity Label-MS)

ESM2 similar proteins: A0T0K3, O36406, O90368, O90370, P03317, P09270, P09395, P0DXO6, P13886, P13887, P14346, P17779, P20999, P22591, P27283, P29475, P29476, P36327, P36328, P52467, P52468, P52540, P86937, P86938, Q01225, Q02330, Q04575, Q05947, Q0V9U8, Q18LD2, Q27571, Q29498, Q2KJ69, Q4JQW9, Q4R3V2, Q5PR55, Q5RFG5, Q5UPH6, Q5XXP4, Q6AXM9

Diamond homologs: Q2KJ69, Q5PR55, Q5RFG5, Q6AXM9, Q8BHN7, Q8N999

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	8
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1076282	NM_025114.4(CEP290):c.7289_7292dup (p.Tyr2431Ter)	Pathogenic
856893	NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)	Pathogenic
866473	NM_025114.4(CEP290):c.7318_7321dup (p.Leu2441fs)	Pathogenic
2680574	NM_025114.4(CEP290):c.7311del (p.Asn2438fs)	Likely pathogenic
2680608	NM_025114.4(CEP290):c.7256C>G (p.Ser2419Ter)	Likely pathogenic
3241103	NM_025114.4(CEP290):c.7240G>T (p.Glu2414Ter)	Likely pathogenic

SpliceAI

815 predictions. Top by Δscore:

Variant	Effect	Δscore
12:88035736:CAG:C	donor_loss	1.0000
12:88035737:AG:A	donor_loss	1.0000
12:88040146:A:G	acceptor_gain	1.0000
12:88042815:A:AG	acceptor_gain	1.0000
12:88042816:C:G	acceptor_gain	1.0000
12:88042821:TTA:T	acceptor_loss	1.0000
12:88042822:TAGA:T	acceptor_loss	1.0000
12:88042823:A:AG	acceptor_gain	1.0000
12:88042823:A:T	acceptor_loss	1.0000
12:88042824:G:GA	acceptor_gain	1.0000
12:88042824:GA:G	acceptor_gain	1.0000
12:88042824:GAT:G	acceptor_gain	1.0000
12:88042824:GATC:G	acceptor_gain	1.0000
12:88042824:GATCA:G	acceptor_gain	1.0000
12:88042917:AAAGG:A	donor_loss	1.0000
12:88042919:AGG:A	donor_loss	1.0000
12:88042920:GGT:G	donor_loss	1.0000
12:88042921:G:A	donor_loss	1.0000
12:88042921:G:GG	donor_gain	1.0000
12:88043595:TTA:T	acceptor_loss	1.0000
12:88043597:A:AC	acceptor_loss	1.0000
12:88043597:A:AG	acceptor_gain	1.0000
12:88043598:G:GC	acceptor_gain	1.0000
12:88043598:GA:G	acceptor_gain	1.0000
12:88043598:GAA:G	acceptor_gain	1.0000
12:88043598:GAAT:G	acceptor_gain	1.0000
12:88043598:GAATT:G	acceptor_gain	1.0000
12:88045580:AGGTT:A	acceptor_gain	1.0000
12:88045581:GGTTG:G	acceptor_gain	1.0000
12:88045660:T:TA	acceptor_gain	1.0000

AlphaMissense

2177 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:88045584:T:A	W142R	0.999
12:88045584:T:C	W142R	0.999
12:88045586:G:C	W142C	0.998
12:88045586:G:T	W142C	0.998
12:88046938:G:A	G251R	0.998
12:88046938:G:C	G251R	0.998
12:88046947:T:A	W254R	0.998
12:88046947:T:C	W254R	0.998
12:88048261:T:A	W273R	0.998
12:88048261:T:C	W273R	0.998
12:88040236:G:A	G60E	0.997
12:88042839:T:A	W75R	0.997
12:88042839:T:C	W75R	0.997
12:88045582:G:A	G141D	0.997
12:88046939:G:A	G251E	0.997
12:88046976:G:C	K263N	0.997
12:88046976:G:T	K263N	0.997
12:88040226:A:C	K57Q	0.996
12:88043607:T:A	W105R	0.996
12:88043607:T:C	W105R	0.996
12:88046936:A:T	E250V	0.996
12:88048240:C:A	R266S	0.996
12:88040236:G:T	G60V	0.995
12:88040251:T:A	V65D	0.995
12:88043646:T:A	W118R	0.995
12:88043646:T:C	W118R	0.995
12:88045585:G:C	W142S	0.995
12:88045747:T:C	L196P	0.995
12:88045753:G:A	G198E	0.995
12:88046974:A:G	K263E	0.995

dbSNP variants (sampled 300 via entrez): RS1000110639 (12:88035510 T>G), RS1000129250 (12:88036923 G>A,T), RS1000232593 (12:88042287 G>A), RS1000264988 (12:88042509 G>C), RS1000397364 (12:88035167 T>C), RS1001267763 (12:88047916 G>A), RS1001302149 (12:88048115 A>C), RS1001457017 (12:88040892 T>A), RS1001722718 (12:88043082 G>A,T), RS1001832321 (12:88035586 C>A,G,T), RS1002344022 (12:88042302 C>T), RS1002761875 (12:88045186 C>A), RS1003509787 (12:88034019 A>G), RS1003625854 (12:88039253 G>A), RS1003918023 (12:88038959 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:213300, MIM:249000, MIM:204000, MIM:256100, MIM:610188, MIM:610189, MIM:611134, MIM:611755, MIM:615991

GenCC curated gene-disease

Mondo (11): Joubert syndrome (MONDO:0018772), Meckel syndrome (MONDO:0018921), Leber congenital amaurosis (MONDO:0018998), nephronophthisis (MONDO:0019005), Joubert syndrome 5 (MONDO:0012432), Senior-Loken syndrome 6 (MONDO:0012433), Meckel syndrome, type 4 (MONDO:0012626), Leber congenital amaurosis 10 (MONDO:0012723), Bardet-Biedl syndrome 14 (MONDO:0014442), CEP290-related ciliopathy (MONDO:0100451), inherited retinal dystrophy (MONDO:0019118)

Orphanet (8): Isolated Joubert syndrome (Orphanet:475), Meckel syndrome (Orphanet:564), Leber congenital amaurosis (Orphanet:65), Nephronophthisis (Orphanet:655), Bardet-Biedl syndrome (Orphanet:110), Joubert syndrome with oculorenal defect (Orphanet:2318), Senior-Loken syndrome (Orphanet:3156), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0000090	Nephronophthisis
HP:0000556	Retinal dystrophy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002595_19	Clozapine-induced agranulocytosis	6.000000e-06

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D057130	Leber Congenital Amaurosis	C11.270.516; C11.768.364
D058499	Retinal Dystrophies	C11.768.585.658
C567141	Bardet-Biedl Syndrome 14 (supp.)
C537688	Joubert syndrome 5 (supp.)
C565720	Leber Congenital Amaurosis 10 (supp.)
C565708	Senior-Loken Syndrome 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment, decreases methylation	2
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	decreases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	decreases expression	1
MT19c compound	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Lead	affects splicing	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
T-2 Toxin	increases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00999609	PHASE3	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis
NCT06891443	PHASE3	RECRUITING	Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
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]
NCT00516477	PHASE1	COMPLETED	Safety Study in Subjects With Leber Congenital Amaurosis
NCT00821340	PHASE1	COMPLETED	Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations
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)
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT03913143	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
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.
NCT00749957	PHASE1/PHASE2	COMPLETED	Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis
NCT01208389	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2
NCT01496040	PHASE1/PHASE2	COMPLETED	Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65
NCT02781480	PHASE1/PHASE2	COMPLETED	Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)
NCT03913130	PHASE1/PHASE2	TERMINATED	Extension Study to Study PQ-110-001 (NCT03140969)
NCT03920007	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of Subretinally Injected ATSN-101 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D
NCT05203939	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
NCT05906953	PHASE1/PHASE2	RECRUITING	Safety and Efficacy Trial of HG004 for Leber Congenital Amaurosis Related to Rpe65 Gene Mutations (STAR)
NCT06088992	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Leber Congenital Amaurosis Inherited Blindness of Gene Therapy Trial(LIGHT)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02435940	Not specified	RECRUITING	Inherited Retinal Degenerative Disease Registry
NCT02575430	Not specified	COMPLETED	Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
NCT02714816	Not specified	COMPLETED	Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65
NCT02946879	Not specified	COMPLETED	Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
NCT02970266	Not specified	COMPLETED	Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.
NCT07026565	Not specified	NOT_YET_RECRUITING	Psychotherapy Group for Parents of Children With LCA
NCT01022957	Not specified	COMPLETED	Nephronophthisis : Clinical and Genetic Study
NCT05286632	Not specified	COMPLETED	KidneYou - Innovative Digital Therapy
NCT06065852	Not specified	RECRUITING	National Registry of Rare Kidney Diseases
NCT06648044	Not specified	RECRUITING	Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT03396042	Not specified	COMPLETED	Natural History Study of CEP290-Related Retinal Degeneration
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