NAALADL1

Summary

NAALADL1 (N-acetylated alpha-linked acidic dipeptidase like 1, HGNC:23536) is a protein-coding gene on chromosome 11q13.1, encoding Aminopeptidase NAALADL1 (Q9UQQ1). Aminopeptidase with broad substrate specificity.

Enables aminopeptidase activity; metal ion binding activity; and protein homodimerization activity. Involved in peptide catabolic process. Predicted to be located in apical plasma membrane.

Source: NCBI Gene 10004 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 167 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_005468

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23536
Approved symbol	NAALADL1
Name	N-acetylated alpha-linked acidic dipeptidase like 1
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	HILAP
Ensembl gene	ENSG00000168060
Ensembl biotype	protein_coding
OMIM	602640
Entrez	10004

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 13 protein_coding, 8 retained_intron, 1 nonsense_mediated_decay

ENST00000340252, ENST00000355721, ENST00000356632, ENST00000358658, ENST00000524445, ENST00000526516, ENST00000526799, ENST00000528884, ENST00000528977, ENST00000529274, ENST00000529685, ENST00000530139, ENST00000530995, ENST00000531174, ENST00000531746, ENST00000532432, ENST00000532450, ENST00000532802, ENST00000533340, ENST00000533753, ENST00000533842, ENST00000534568

RefSeq mRNA: 1 — MANE Select: NM_005468 NM_005468

CCDS: CCDS31604

Canonical transcript exons

ENST00000358658 — 18 exons

Exon	Start	End
ENSE00001119953	65058078	65058250
ENSE00001631332	65044818	65045457
ENSE00002194964	65058337	65058553
ENSE00003463432	65053491	65053576
ENSE00003467825	65045822	65045914
ENSE00003489944	65047475	65047565
ENSE00003491930	65054250	65054354
ENSE00003494051	65054455	65054738
ENSE00003554413	65047981	65048048
ENSE00003556627	65053218	65053337
ENSE00003559157	65048152	65048215
ENSE00003580551	65057875	65057996
ENSE00003599093	65046027	65046114
ENSE00003601060	65047647	65047738
ENSE00003683177	65057371	65057493
ENSE00003683316	65048300	65048385
ENSE00003727669	65046445	65046526
ENSE00003732544	65046189	65046362

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 97.29.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8871 / max 221.8055, expressed in 691 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120520	1.6723	682
120521	0.2148	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	97.29	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.89	gold quality
small intestine	UBERON:0002108	93.04	gold quality
granulocyte	CL:0000094	90.38	gold quality
mucosa of transverse colon	UBERON:0004991	89.40	gold quality
descending thoracic aorta	UBERON:0002345	89.37	gold quality
right coronary artery	UBERON:0001625	88.96	gold quality
body of uterus	UBERON:0009853	88.53	gold quality
thoracic aorta	UBERON:0001515	88.38	gold quality
ascending aorta	UBERON:0001496	88.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.18	gold quality
endocervix	UBERON:0000458	87.93	gold quality
aorta	UBERON:0000947	86.77	gold quality
left coronary artery	UBERON:0001626	86.71	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.50	gold quality
lower esophagus	UBERON:0013473	86.45	gold quality
coronary artery	UBERON:0001621	86.44	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.23	gold quality
duodenum	UBERON:0002114	86.16	gold quality
right ovary	UBERON:0002118	85.70	gold quality
popliteal artery	UBERON:0002250	85.65	gold quality
tibial artery	UBERON:0007610	85.64	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.63	gold quality
left uterine tube	UBERON:0001303	85.55	gold quality
left ovary	UBERON:0002119	85.26	gold quality
ectocervix	UBERON:0012249	85.21	gold quality
jejunal mucosa	UBERON:0000399	85.03	gold quality
mucosa of stomach	UBERON:0001199	84.87	gold quality
stromal cell of endometrium	CL:0002255	84.51	gold quality
transverse colon	UBERON:0001157	84.39	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	72.40
E-HCAD-6	yes	21.64
E-ANND-3	yes	3.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting NAALADL1, 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-185-3P	99.95	67.01	1743
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-135A-2-3P	98.40	66.74	442
HSA-MIR-135B-3P	98.40	67.35	426
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-6085	96.57	64.11	621
HSA-MIR-576-3P	96.14	65.63	773
HSA-MIR-6734-5P	95.70	65.56	950
HSA-MIR-3162-5P	95.67	67.53	794

Literature-anchored findings (GeneRIF, showing 1)

• characterization of the protein product of the human NAALADL1 gene (PMID:25752612)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	naaladl1	ENSDARG00000020952
mus_musculus	Naaladl1	ENSMUSG00000054999
rattus_norvegicus	Naaladl1	ENSRNOG00000021000
caenorhabditis_elegans		WBGENE00007954
caenorhabditis_elegans		WBGENE00020082

Paralogs (5): TFRC (ENSG00000072274), NAALAD2 (ENSG00000077616), FOLH1 (ENSG00000086205), TFR2 (ENSG00000106327), NAALADL2 (ENSG00000177694)

Protein

Protein identifiers

Aminopeptidase NAALADL1 — Q9UQQ1 (reviewed: Q9UQQ1)

Alternative names: 100 kDa ileum brush border membrane protein, Ileal dipeptidylpeptidase, N-acetylated-alpha-linked acidic dipeptidase-like protein

All UniProt accessions (12): C9JFW8, Q9UQQ1, E9PII9, E9PIU1, E9PJQ1, E9PKG8, E9PKR0, E9PKW7, E9PLR8, E9PRC7, H0YDS5, H0YEI8

UniProt curated annotations — full annotation on UniProt →

Function. Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2’ position, or Pro in the P3’ position. Lacks activity with substrates that have both Pro in the P3’ position and Asp or Glu in the P2’ position. Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity.

Subunit / interactions. Homodimer.

Subcellular location. Apical cell membrane.

Tissue specificity. Detected in small intestine (at protein level). Detected in ileum. Detected in small intestine, spleen and testis. Isoform 2 and isoform 3 are found in the small intestine and colon.

Post-translational modifications. N-glycosylated.

Activity regulation. Inhibited by bestatin.

Cofactor. Binds 2 Zn(2+) ions per subunit.

Similarity. Belongs to the peptidase M28 family. M28B subfamily.

Isoforms (8)

UniProt ID	Names	Canonical?
Q9UQQ1-1	1	yes
Q9UQQ1-2	2
Q9UQQ1-3	3
Q9UQQ1-4	4
Q9UQQ1-5	5
Q9UQQ1-6	6
Q9UQQ1-7	7
Q9UQQ1-8	8

RefSeq proteins (1): NP_005459* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003137	PA_domain	Domain
IPR007365	TFR-like_dimer_dom	Domain
IPR007484	Peptidase_M28	Domain
IPR036757	TFR-like_dimer_dom_sf	Homologous_superfamily
IPR039373	Peptidase_M28B	Family
IPR046450	PA_dom_sf	Homologous_superfamily

Pfam: PF02225, PF04253, PF04389

UniProt features (104 total): strand 30, helix 26, splice variant 11, binding site 10, turn 9, glycosylation site 7, sequence variant 3, topological domain 2, chain 1, transmembrane region 1, disulfide bond 1, mutagenesis site 1, sequence conflict 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4TWE	X-RAY DIFFRACTION	1.75

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UQQ1-F1	95.31	0.92

Functional residue map

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

Catalytic / active sites (1): 416 (proton donor/acceptor)

Ligand- & substrate-binding residues (10): 417; 425; 428; 445; 545; 258; 261; 368; 378; 378

Disulfide bonds (1): 296–313

Glycosylation sites (7): 136, 274, 299, 334, 345, 451, 492

Mutagenesis-validated functional residues (1):

Position	Phenotype
416	loss of enzyme activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 78 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOMF_METALLOPEPTIDASE_ACTIVITY, ENK_UV_RESPONSE_KERATINOCYTE_UP, chr11q13, GOBP_PEPTIDE_METABOLIC_PROCESS, MODULE_301, GOCC_APICAL_PLASMA_MEMBRANE, SABATES_COLORECTAL_ADENOMA_DN, ROSS_AML_WITH_PML_RARA_FUSION, MODULE_188, MARIADASON_REGULATED_BY_HISTONE_ACETYLATION_UP, CHANG_IMMORTALIZED_BY_HPV31_UP, GOBP_PEPTIDE_CATABOLIC_PROCESS, GOCC_APICAL_PART_OF_CELL

GO Biological Process (2): proteolysis (GO:0006508), peptide catabolic process (GO:0043171)

GO Molecular Function (9): aminopeptidase activity (GO:0004177), carboxypeptidase activity (GO:0004180), calcium ion binding (GO:0005509), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (3): membrane (GO:0016020), apical plasma membrane (GO:0016324), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
exopeptidase activity	2
protein metabolic process	1
peptide metabolic process	1
catabolic process	1
metal ion binding	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
transition metal ion binding	1
identical protein binding	1
protein dimerization activity	1
catalytic activity	1
cation binding	1
cellular anatomical structure	1
apical part of cell	1
plasma membrane region	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

904 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NAALADL1	KCNN3	Q9UGI6	774
NAALADL1	CCR7	P32248	772
NAALADL1	DPP4	P27487	772
NAALADL1	ADGRG6	Q86SQ4	768
NAALADL1	UCHL1	P09936	765
NAALADL1	CD4	P01730	720
NAALADL1	CD27	P26842	720
NAALADL1	CD8A	P01732	712
NAALADL1	CD19	P15391	696
NAALADL1	INSM2	Q96T92	694
NAALADL1	IL7R	P16871	690
NAALADL1	CD38	P28907	668
NAALADL1	AMBP	P00977	668
NAALADL1	CD28	P10747	624
NAALADL1	SELL	P14151	622

IntAct

4 interactions, top by confidence:

A	B	Type	Score
NAALADL1	H1-5	psi-mi:“MI:0915”(physical association)	0.400
NAALADL1	H1-2	psi-mi:“MI:0915”(physical association)	0.400
NAALADL1	TMEM43	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): NAALADL1 (Proximity Label-MS), NAALADL1 (Proximity Label-MS), TMEM43 (Affinity Capture-MS)

ESM2 similar proteins: B5T255, C0HK98, C0HK99, O35632, O75594, O76537, O88593, P04066, P06280, P09958, P10253, P13943, P16444, P22412, P23188, P23377, P28053, P31429, P43477, P48300, P70699, Q12891, Q28193, Q3SZM7, Q3T0I2, Q5R7A9, Q60HF8, Q6P7A9, Q70PR8, Q70PU2, Q70PW6, Q70PY2, Q765P2, Q765P3, Q765P4, Q8BJ64, Q8INK6, Q8SPP7, Q8SQG7, Q8SQG8

Diamond homologs: A0A1D6L709, B2GUY2, D4B1R0, O35409, O43023, O54697, O77564, P70627, P91406, Q04609, Q5RDH6, Q5WN23, Q7M758, Q7Y228, Q852M4, Q9CZR2, Q9HBA9, Q9JKX3, Q9M1S8, Q9UP52, Q9UQQ1, Q9Y3Q0, A4R017, A7UI11, B2W3C7, B2W572, B6V870, C0SJ49, C4JHZ6, C4JLL1, C5FFM0, C5FNB5, C5FP82, C5G0A8, C5P552, C9SPU8, D4AM42, D4AWL0, D4D8N9, D4DF09

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	148
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3250152	NM_005468.3(NAALADL1):c.1509-1G>A	Likely pathogenic

SpliceAI

2511 predictions. Top by Δscore:

Variant	Effect	Δscore
11:65045817:CTCA:C	donor_loss	1.0000
11:65045818:TCACC:T	donor_loss	1.0000
11:65045819:CACCT:C	donor_loss	1.0000
11:65045820:A:AC	donor_gain	1.0000
11:65045820:A:C	donor_loss	1.0000
11:65045821:C:A	donor_loss	1.0000
11:65045821:C:CC	donor_gain	1.0000
11:65045910:GGGGG:G	acceptor_gain	1.0000
11:65045911:GGGG:G	acceptor_gain	1.0000
11:65045912:GGG:G	acceptor_gain	1.0000
11:65045913:GG:G	acceptor_gain	1.0000
11:65045915:C:CC	acceptor_gain	1.0000
11:65046016:C:A	donor_gain	1.0000
11:65046023:TCACT:T	donor_loss	1.0000
11:65046024:CACTC:C	donor_loss	1.0000
11:65046025:A:AC	donor_gain	1.0000
11:65046026:C:CA	donor_gain	1.0000
11:65046026:CT:C	donor_gain	1.0000
11:65046029:A:AC	donor_gain	1.0000
11:65046036:C:A	donor_gain	1.0000
11:65046113:CC:C	acceptor_gain	1.0000
11:65046114:CC:C	acceptor_gain	1.0000
11:65046115:C:CC	acceptor_gain	1.0000
11:65047561:CCAAG:C	acceptor_gain	1.0000
11:65047562:CAAGC:C	acceptor_gain	1.0000
11:65047641:GCTTA:G	donor_loss	1.0000
11:65047642:CTTAC:C	donor_loss	1.0000
11:65047643:TTAC:T	donor_loss	1.0000
11:65047644:TA:T	donor_loss	1.0000
11:65047645:ACC:A	donor_loss	1.0000

AlphaMissense

4773 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:65048348:G:C	S412R	0.999
11:65048348:G:T	S412R	0.999
11:65048350:T:G	S412R	0.999
11:65046493:G:C	H545D	0.998
11:65048171:G:C	N443K	0.998
11:65048171:G:T	N443K	0.998
11:65048347:A:G	W413R	0.998
11:65048347:A:T	W413R	0.998
11:65053314:G:C	H368D	0.998
11:65053320:C:A	G366W	0.998
11:65047540:C:G	D512H	0.997
11:65047541:G:C	S511R	0.997
11:65047541:G:T	S511R	0.997
11:65047543:T:G	S511R	0.997
11:65048316:G:A	S423F	0.997
11:65053273:A:C	S381R	0.997
11:65053273:A:T	S381R	0.997
11:65053275:T:G	S381R	0.997
11:65053302:A:G	W372R	0.997
11:65053302:A:T	W372R	0.997
11:65053315:G:C	N367K	0.997
11:65053315:G:T	N367K	0.997
11:65053334:C:G	R361P	0.997
11:65047539:T:A	D512V	0.996
11:65047540:C:A	D512Y	0.996
11:65048334:T:A	E417V	0.996
11:65048345:C:A	W413C	0.996
11:65048345:C:G	W413C	0.996
11:65053303:G:C	S371R	0.996
11:65053303:G:T	S371R	0.996

dbSNP variants (sampled 300 via entrez): RS1000034452 (11:65050755 C>G), RS1000120658 (11:65060876 A>G), RS1000149375 (11:65059433 C>T), RS1000181084 (11:65050197 G>C,T), RS1000196767 (11:65057115 C>T), RS1000462859 (11:65047745 G>A), RS1000554366 (11:65050476 T>C), RS1000727908 (11:65062345 C>T), RS1000831765 (11:65060461 A>AGT), RS1001143223 (11:65060826 C>T), RS1001161516 (11:65062032 T>A), RS1001266776 (11:65059863 G>C), RS1001347664 (11:65046766 G>A), RS1001496584 (11:65053251 G>A,C), RS1001498652 (11:65051389 T>C)

Disease associations

OMIM: gene MIM:602640 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): inherited retinal dystrophy (MONDO:0019118), optic atrophy (MONDO:0003608)

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

1 associations (top):

Study	Trait	p-value
GCST009602_25	Metabolic syndrome	5.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0000195	metabolic syndrome

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451
D058499	Retinal Dystrophies	C11.768.585.658

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — M28: Aminopeptidase Y

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

49 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)
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
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
NCT01876147	Not specified	COMPLETED	Visual and Functional Assessment in Low Vision Patients
NCT01920867	Not specified	UNKNOWN	Stem Cell Ophthalmology Treatment Study
NCT02014389	Not specified	RECRUITING	Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
NCT02983305	Not specified	COMPLETED	Optical Head-Mounted Display Technology for Low Vision Rehabilitation
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)