Details of Disease

General Information of Disease (ID: DISLKKHD)

Disease Name	Macular degeneration
Synonyms	retinal degeneration of macula lutea; macular degeneration of retina; macula retinal degeneration; macula lutea retinal degeneration
Disease Class	9B71: Retinopathy
Definition	Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
Disease Hierarchy	DISM1JHQ: Retinal degeneration DISLKKHD: Macular degeneration
ICD Code	ICD-11 ICD-11: 9B78.3 ICD-10 ICD-10: H35.3 ICD-9 ICD-9: 362.5 Expand ICD-9 362.5
Disease Identifiers	MONDO ID MONDO_0003004 MESH ID D008268 UMLS CUI C0024437 MedGen ID 7434 HPO ID HP:0000608 SNOMED CT ID 422338006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Anecortave acetate	DMCNASS	Approved	Small molecular drug	[1]
Rifapentine	DMCHV4I	Approved	Small molecular drug	[2]
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This Disease is Treated as An Indication in 32 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Fenretinide	DMRD5SP	Phase 3	Small molecular drug	[3]
Rostaporfin	DM7SAKN	Phase 3	Small molecular drug	[4]
TRC105	DM1874J	Phase 3	Monoclonal antibody	[5]
Zimura	DM09TVB	Phase 3	Oligonucleotide	[6]
A-6	DM6ZIES	Phase 2	NA	[7]
AGN-150998	DMGBLGY	Phase 2	NA	[8]
Disitertide	DM2QBDS	Phase 2	NA	[9]
E-10030	DMDYWM8	Phase 2	NA	[10]
GSK933776A	DMX27Q1	Phase 2	NA	[11]
JNJ-81201887	DMZ8AOC	Phase 2	NA	[12]
LFG-316	DMCT1RQ	Phase 2	Antibody	[13]
POT-4	DMH0LM2	Phase 2	NA	[14]
PRM-151	DMK8PTH	Phase 2	NA	[15]
RetinoStat	DMVXZJ4	Phase 2	NA	[16]
TG-0054	DM2ZLWH	Phase 2	NA	[17]
TG100801	DMPH1AG	Phase 2	Small molecular drug	[18]
X-82	DMW1NKO	Phase 2	NA	[19]
AAV1-FS344	DMAPUZY	Phase 1/2	NA	[20]
Human retinal pigment epithelial cell therapy	DM914KY	Phase 1/2	NA	[21]
ARC-1905	DMY0DPM	Phase 1	Aptamer	[22]
CDX-1135	DMS20X6	Phase 1	NA	[23]
GZ402663	DM23MCX	Phase 1	NA	[24]
Hl-con1	DMDAJ9Q	Phase 1	NA	[25]
JSM 6427	DM4QIOH	Phase 1	NA	[26]
MP-0112	DMJOMD4	Phase 1	NA	[27]
NOX-A12	DMMKN4Q	Phase 1	NA	[28]
OC-10X	DMOSRFZ	Phase 1	NA	[29]
Palomid-529	DM428Y3	Phase 1	NA	[30]
PEDF gene therapy	DM4CY2G	Phase 1	NA	[31]
R7334	DMVA186	Phase 1	Antibody	[32]
SFLT-01	DMD2GKF	Phase 1	NA	[33]
Sonepcizumab	DMB3YZJ	Phase 1	Antibody	[34]
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⏷ Show the Full List of 32 Drug(s)

This Disease is Treated as An Indication in 1 Patented Agent(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Antibodie derivative 9	DMDRJ31	Patented	Antibody	[35]
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This Disease is Treated as An Indication in 1 Discontinued Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
ALN-VEG01	DMT584A	Terminated	siRNA drug	[36]
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This Disease is Treated as An Indication in 3 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
EC-400	DM3HCN3	Investigative	NA	[2]
Stem cell therapy, Dry AMD	DM90D1Q	Investigative	NA	[2]
T1-1081	DMOIMII	Investigative	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RS1	TTT2CZY	Limited	Genetic Variation	[37]
E2F2	TT5FYX0	moderate	Biomarker	[38]
ABCA4	TTLB52K	Strong	Genetic Variation	[39]
CD36	TTPJMCU	Strong	Biomarker	[40]
CFH	TTUW6OP	Strong	Genetic Variation	[41]
CNGB3	TT0LJCG	Strong	Biomarker	[42]
CRYAB	TT7RUHB	Strong	Therapeutic	[43]
IMPDH1	TT3GRLK	Strong	Genetic Variation	[44]
RPGR	TTHBDA9	Strong	Genetic Variation	[45]
SERPINF1	TTR59S1	Strong	Biomarker	[46]
TST	TT51OTS	Strong	Genetic Variation	[47]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BEST1	OTWHE1ZC	Limited	Genetic Variation	[48]
C1QTNF5	OTLKU5I2	Limited	Genetic Variation	[49]
LRRTM4	OTYJ4348	moderate	Genetic Variation	[50]
AFG3L2	OTRPMAUX	Strong	CausalMutation	[51]
ARMS2	OTUXHJ9H	Strong	Genetic Variation	[52]
ATXN7	OTL3YF1H	Strong	Altered Expression	[53]
CDHR1	OT1ORXCM	Strong	Biomarker	[54]
EFEMP1	OTZVUOOB	Strong	Genetic Variation	[55]
ELOVL4	OT2M9W26	Strong	Genetic Variation	[56]
FSCN2	OTADS8G3	Strong	Genetic Variation	[57]
MFRP	OTHY9ZA5	Strong	Genetic Variation	[58]
PRPH2	OTNH2G5H	Strong	Genetic Variation	[47]
RPE	OT0XT3JU	Strong	Biomarker	[59]
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⏷ Show the Full List of 13 DOT(s)

References

1	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
2	The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
3	ClinicalTrials.gov (NCT00003075) Fenretinide in Treating Patients With Cervical Neoplasia. U.S. National Institutes of Health.
4	ClinicalTrials.gov (NCT00157976) Double-Masked Study of Photrex (Rostaporfin) Photodynamic Therapy in the Treatment of Age-Related Macular Degeneration. U.S. National Institutes of Health.
5	ClinicalTrials.gov (NCT01727089) Bevacizumab With or Without TRC105 in Treating Patients With Metastatic Kidney Cancer. U.S. National Institutes of Health.
6	ClinicalTrials.gov (NCT04435366) A Phase 3 Safety and Efficacy Study of Intravitreal Administration of Zimura (Complement C5 Inhibitor). U.S. National Institutes of Health.
7	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011940)
8	ClinicalTrials.gov (NCT01397409) Evaluation of AGN-150998 in Exudative Age-related Macular Degeneration (AMD). U.S. National Institutes of Health.
9	Perspectives of TGF-beta inhibition in pancreatic and hepatocellular carcinomas. Oncotarget. 2014 January; 5(1): 78-94.
10	ClinicalTrials.gov (NCT01089517) A Safety and Efficacy Study of E10030 (Anti-PDGF Pegylated Aptamer) Plus Lucentis for Neovascular Age-Related Macular Degeneration. U.S. National Institutes of Health.
11	ClinicalTrials.gov (NCT01342926) Clinical Study to Investigate Safety and Efficacy of GSK933776 in Adult Patients With Geographic Atrophy Secondary to Age-related Macular Degeneration. U.S. National Institutes of Health.
12	ClinicalTrials.gov (NCT05811351) A Phase 2b, Randomized, Double-masked, Multicenter, Dose-ranging, Sham-controlled Clinical Trial to Evaluate Intravitreal JNJ-81201887 (AAVCAGsCD59) Compared to Sham Procedure for the Treatment of Geographic Atrophy (GA) Secondary to Age-related Macular Degeneration (AMD). U.S.National Institutes of Health.
13	ClinicalTrials.gov (NCT01527500) Intravitreal LFG316 in Patients With Age-related Macular Degeneration (AMD). U.S. National Institutes of Health.
14	ClinicalTrials.gov (NCT01157065) Evaluation of AL-78898A in Exudative Age-Related Macular Degeneration. U.S. National Institutes of Health.
15	PRM-151 (recombinant human serum amyloid P/pentraxin 2) for the treatment of fibrosis. Drug News Perspect. 2010 Jun;23(5):305-15.
16	Safety and biodistribution of an equine infectious anemia virus-based gene therapy, RetinoStat( ), for age-related macular degeneration. Hum Gene Ther. 2012 Sep;23(9):980-91.
17	ClinicalTrials.gov (NCT01018979) Safety and PK/PD of TG-0054 in Multiple Myeloma, Non-Hodgkin Lymphoma and Hodgkin Disease Patients. U.S. National Institutes of Health.
18	ClinicalTrials.gov (NCT00509548) Open-Label, Pilot Study of TG100801 in Patients With Choroidal Neovascularization Due to AMD. U.S. National Institutes of Health.
19	Clinical pipeline report, company report or official report of Tyrogenex.
20	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800037187)
21	Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies. Lancet. 2015 Feb 7;385(9967):509-16.
22	ClinicalTrials.gov (NCT00950638) A Study of ARC1905 (Anti-C5 Aptamer) in Subjects With Dry Age-related Macular Degeneration. U.S. National Institutes of Health.
23	ClinicalTrials.gov (NCT01791686) Clinical Trial of CDX-1135 in Pediatric and Adult Patients With Dense Deposit Disease. U.S. National Institutes of Health.
24	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800024449)
25	Clinical pipeline report, company report or official report of Iconic therapeutics.
26	ClinicalTrials.gov (NCT00536016) A Phase 1 Safety Study of Single and Repeated Doses of JSM6427 (Intravitreal Injection) to Treat AMD. U.S. National Institutes of Health.
27	ClinicalTrials.gov (NCT01042678) Study of MP0112 Intravitreal Injection in Patients With Diabetic Macular Edema. U.S. National Institutes of Health.
28	ClinicalTrials.gov (NCT01194934) NOX-A12 Multiple Ascending Dose Study in Healthy Volunteers. U.S. National Institutes of Health.
29	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800023889)
30	ClinicalTrials.gov (NCT01033721) Phase I Study of Palomid 529 a Dual TORC1/2 Inhibitor of the PI3K/Akt/mTOR Pathway for Advanced Neovascular Age-Related Macular Degeneration (P52901). U.S. National Institutes of Health.
31	ClinicalTrials.gov (NCT00109499) Study of AdGVPEDF.11D in Neovascular Age-related Macular Degeneration (AMD). U.S. National Institutes of Health.
32	ClinicalTrials.gov (NCT00702494) Phase I Study on Monoclonal Antibody TB-403 Directed Against PlGF in Patients With Solid Tumours. U.S. National Institutes of Health.
33	ClinicalTrials.gov (NCT01024998) Safety and Tolerability Study of AAV2-sFLT01 in Patients With Neovascular Age-Related Macular Degeneration (AMD). U.S. National Institutes of Health.
34	ClinicalTrials.gov (NCT00661414) Safety Study of ASONEP (Sonepcizumab/LT1009) to Treat Advanced Solid Tumors. U.S. National Institutes of Health.
35	VEGFR-2 inhibitors and the therapeutic applications thereof: a patent review (2012-2016).Expert Opin Ther Pat. 2017 Sep;27(9):987-1004.
36	Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800025250)
37	Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.J Cell Biol. 2019 Mar 4;218(3):1027-1038. doi: 10.1083/jcb.201806148. Epub 2019 Jan 10.
38	In situ regeneration of retinal pigment epithelium by gene transfer of E2F2: a potential strategy for treatment of macular degenerations.Gene Ther. 2017 Dec;24(12):810-818. doi: 10.1038/gt.2017.89. Epub 2017 Nov 30.
39	Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.Biosci Rep. 2019 Jan 15;39(1):BSR20180872. doi: 10.1042/BSR20180872. Print 2019 Jan 31.
40	CD36 deficiency leads to choroidal involution via COX2 down-regulation in rodents.PLoS Med. 2008 Feb;5(2):e39. doi: 10.1371/journal.pmed.0050039.
41	Molecular Mechanisms of Macular Degeneration Associated with the Complement Factor H Y402H Mutation.Biophys J. 2019 Jan 22;116(2):215-226. doi: 10.1016/j.bpj.2018.12.007. Epub 2018 Dec 14.
42	Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142.
43	The mitochondria-targeted antioxidant SkQ1 restores B-crystallin expression and protects against AMD-like retinopathy in OXYS rats.Cell Cycle. 2014;13(22):3499-505. doi: 10.4161/15384101.2014.958393.
44	Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868.
45	RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.Br J Ophthalmol. 2009 Sep;93(9):1151-4. doi: 10.1136/bjo.2008.153908. Epub 2009 May 7.
46	Alterations of retinal pigment epithelium cause AMD-like retinopathy in senescence-accelerated OXYS rats.Aging (Albany NY). 2011 Jan;3(1):44-54. doi: 10.18632/aging.100243.
47	Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.Hum Mol Genet. 2014 Jun 15;23(12):3102-14. doi: 10.1093/hmg/ddu014. Epub 2014 Jan 25.
48	Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.Adv Exp Med Biol. 2016;854:739-44. doi: 10.1007/978-3-319-17121-0_98.
49	The macular degeneration-linked C1QTNF5 (S163) mutation causes higher-order structural rearrangements.J Struct Biol. 2014 Apr;186(1):86-94. doi: 10.1016/j.jsb.2014.02.001. Epub 2014 Feb 12.
50	LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.J Hum Genet. 2018 Aug;63(8):893-900. doi: 10.1038/s10038-018-0465-4. Epub 2018 May 14.
51	Missense mutations in the AFG3L2 proteolytic domain account for ?1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
52	C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.Ophthalmology. 2010 Aug;117(8):1560-6. doi: 10.1016/j.ophtha.2009.11.020. Epub 2010 Mar 26.
53	Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Hum Mol Genet. 2011 Feb 1;20(3):510-27. doi: 10.1093/hmg/ddq496. Epub 2010 Nov 15.
54	Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891.
55	Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane.Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3046-3054. doi: 10.1167/iovs.17-21720.
56	Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.
57	Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.Mol Vis. 2005 Nov 2;11:922-8.
58	Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. doi: 10.1167/iovs.05-0159.
59	Protective Effect of Met12, a Small Peptide Inhibitor of Fas, on the Retinal Pigment Epithelium and Photoreceptor After Sodium Iodate Injury.Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1801-1810. doi: 10.1167/iovs.16-21392.