Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

Debra A Thompson¹, K Thiran Jayasundera¹, Oleg Alekseev², Robin R Ali³, Alessia Amato⁴, Vadim Y Arshavsky², Isabelle S Audo^{5

6}, Alberto Auricchio⁷, James W B Bainbridge⁸, Eyal Banin⁹, Cagri G Besirli¹, David G Birch¹⁰, Kari E Branham¹, Artur V Cideciyan¹¹, Stephen P Daiger¹², Jacque L Duncan¹³, Abigail T Fahim¹, John G Flannery¹⁴, Roberto Gattegna¹⁵, John R Heckenlively¹, Elise Héon¹⁶, Alessandro Iannaccone^{17

18}, Naheed W Khan¹, Samer Khateb⁹, Henry J Klassen¹⁹, Bart P Leroy^{20

21}, Dario Marangoni²², Michel Michaelides^{8

23}, David C Musch¹, Mark E Pennesi^{10

24}, Simon M Petersen-Jones²⁵, Eric A Pierce²⁶, Rajesh C Rao¹, José-Alain Sahel^{5

6

27

28}, Paul A Sieving²⁹, Enrica Strettoi³⁰, Cameron R Strong³¹, Thomas J Wubben¹, Paul Yang²⁴, David N Zacks¹; Monaciano Consortium

Affiliations

¹ Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.
² Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA.
³ Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.
⁴ Department of Ophthalmology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
⁵ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
⁶ Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France.
⁷ Telethon Institute of Genetics and Medicine, Naples, Italy.
⁸ Institute of Ophthalmology, University College London, London, UK.
⁹ Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Ein-Karem, Jerusalem, Israel.
¹⁰ Retina Foundation of the Southwest, Dallas, TX, USA.
¹¹ Center for Hereditary Retinal Degenerations, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
¹² Human Genetics Center, Epidemiology Department, School of Public Health, University of Texas Health Science Center-Houston, Houston, TX, USA.
¹³ Wayne and Gladys Valley Center for Vision, Department of Ophthalmology, University of California-San Francisco, San Francisco, CA, USA.
¹⁴ Helen Wills Neuroscience Institute, University of California-Berkeley, Berkeley, CA, USA.
¹⁵ Retina Service, Israelitic Hospital, Roma, Italy.
¹⁶ Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁷ Cell and Gene Therapy, Biopharma and Ophthalmology Division, Astellas Pharma US, Northbrook, IL, USA.
¹⁸ Kittner Eye Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
¹⁹ Gavin Herbert Eye Institute, Stem Cell Research Center, University of California-Irvine, Irvine, CA, USA.
²⁰ Department of Ophthalmology & Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium.
²¹ Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²² Department of Medicine, Surgery and Health Sciences, Ophthalmology Clinic, University of Trieste, Trieste, Italy.
²³ Moorfields Eye Hospital, London, UK.
²⁴ Casey Eye Institute, Oregon Health Science Center, Portland, OR, USA.
²⁵ Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI, USA.
²⁶ Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
²⁷ Fondation Ophtalmologique, Rothschild, Paris, France.
²⁸ UPMC Vision Institute, Department of Ophthalmology, University of Pittsburg School of Medicine, Pittsburg, PA, USA.
²⁹ Center for Ocular Regenerative Therapy, Department of Ophthalmology, University of California-Davis School of Medicine, Sacramento, CA, USA.
³⁰ CNR Neuroscience Institute, Area della Ricerca, Pisa, Italy.
³¹ Department of Physical Medicine and Rehabilitation, University of Washington, Seattle, WA, USA.

PMID: 40862658
PMCID: PMC12395841
DOI: 10.1167/tvst.14.8.37

Review

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

Debra A Thompson et al. Transl Vis Sci Technol. 2025.

. 2025 Aug 1;14(8):37.

doi: 10.1167/tvst.14.8.37.

Authors

Affiliations

¹ Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA.
² Department of Ophthalmology, Duke University School of Medicine, Durham, NC, USA.
³ Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.
⁴ Department of Ophthalmology, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
⁵ Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
⁶ Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France.
⁷ Telethon Institute of Genetics and Medicine, Naples, Italy.
⁸ Institute of Ophthalmology, University College London, London, UK.
⁹ Center for Retinal and Macular Degenerations, Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Ein-Karem, Jerusalem, Israel.
¹⁰ Retina Foundation of the Southwest, Dallas, TX, USA.
¹¹ Center for Hereditary Retinal Degenerations, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA, USA.
¹² Human Genetics Center, Epidemiology Department, School of Public Health, University of Texas Health Science Center-Houston, Houston, TX, USA.
¹³ Wayne and Gladys Valley Center for Vision, Department of Ophthalmology, University of California-San Francisco, San Francisco, CA, USA.
¹⁴ Helen Wills Neuroscience Institute, University of California-Berkeley, Berkeley, CA, USA.
¹⁵ Retina Service, Israelitic Hospital, Roma, Italy.
¹⁶ Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Toronto, Ontario, Canada.
¹⁷ Cell and Gene Therapy, Biopharma and Ophthalmology Division, Astellas Pharma US, Northbrook, IL, USA.
¹⁸ Kittner Eye Center, University of North Carolina School of Medicine, Chapel Hill, NC, USA.
¹⁹ Gavin Herbert Eye Institute, Stem Cell Research Center, University of California-Irvine, Irvine, CA, USA.
²⁰ Department of Ophthalmology & Center for Medical Genetics, Ghent University Hospital & Ghent University, Ghent, Belgium.
²¹ Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²² Department of Medicine, Surgery and Health Sciences, Ophthalmology Clinic, University of Trieste, Trieste, Italy.
²³ Moorfields Eye Hospital, London, UK.
²⁴ Casey Eye Institute, Oregon Health Science Center, Portland, OR, USA.
²⁵ Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, East Lansing, MI, USA.
²⁶ Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
²⁷ Fondation Ophtalmologique, Rothschild, Paris, France.
²⁸ UPMC Vision Institute, Department of Ophthalmology, University of Pittsburg School of Medicine, Pittsburg, PA, USA.
²⁹ Center for Ocular Regenerative Therapy, Department of Ophthalmology, University of California-Davis School of Medicine, Sacramento, CA, USA.
³⁰ CNR Neuroscience Institute, Area della Ricerca, Pisa, Italy.
³¹ Department of Physical Medicine and Rehabilitation, University of Washington, Seattle, WA, USA.

PMID: 40862658
PMCID: PMC12395841
DOI: 10.1167/tvst.14.8.37

Abstract

Over the past decade, efforts focused on developing genetic therapies for inherited retinal diseases have advanced steadily to clinical trials and the development of a treatment, fueling optimism for the potential of precision medicines to provide safe and effective therapies for these rare conditions. Although several ongoing programs remain poised for success, numerous challenges have negatively impacted the ability to obtain regulatory approvals. The present position paper briefly summarizes recent advances and challenges in developing therapeutics for inherited retinal diseases, and presents a set of recommendations for moving the field forward. The priorities identified are discussed in terms of progress made and future needs, focusing on areas including patient support, disease mechanisms, outcome measures, and therapy approvals. A key point is the potential value of restructuring collaborative interactions into broadly resourced enterprises that are comprehensive in scope across critical areas of science, business, and medicine.

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Conflict of interest statement

Disclosure: D.A. Thompson, MeiraGTx (F), filed patent on gene therapy (P); K.T. Jayasundera, Editas Medicine (C); O. Alekseev, Sio Gene Therapies (C), Applied Genetic Technologies Corp (F), Belite Bio (F), Drug Farm (F); R.R. Ali, MeiraGTx (O), Tower Therapeutics (O), filed patents on gene and cell therapies (P); A. Amato, None; V.Y. Arshavsky, None; I.S. Audo, Novartis pharmaceuticals (C), Janssen Therapeutics (C), AAVantgarde (C); A. Auricchio, AAVantgarde (C), InnovaVector (C), Alia Therapeutics (C), inventor on gene therapy patents (P); J.W.B. Bainbridge, MeiraGTx (S), filed patents on gene and cell therapies (P), Janssen (C, F), Novartis (C, F), Astellas (C, F), Santen (C); E. Banin, SparingVision (C); Janssen (C); C.G. Besirli, MeiraGTx (F, C), Spark Therapeutics (F), Novartis (F), Regeneron (F), 4DMT (F), Johnson&Johnson (F, C, E, I), ONL Therapeutics (P), iRenix (C, O, P, I), Ocutheia, Inc. (C, O, I), filed patent on gene-agnostic therapy (P); D.G. Birch, Nightstar Therapeutics/Biogen (C), Applied Genetic Technologies CorpBeacon (S), Nacuity Pharmaceuticals (C), Editas Medicine (C), Acucela (S), ProQR SepulBio Therapeutics (C); K.E. Branham, Janssen (C), Sepul Bio (C), Alkeus (C); A.V. Cideciyan, Patents on gene therapies for RPGR, RHO, and NPHP5-associated IRDs (P); ProQR Therapeutics (F), Atsena Therapeutics (F), IVERIC bio (F); Thea Pharma (C), Opus Genetics (C), Alkeus (C), Ray Therapeutics (C); S.P. Daiger, Applied Genetic Technologies Corp (S), 4D Molecular Therapeutics (C); J.L. Duncan, Applied Genetic Technologies Corp (F), Acucela (F), Allergan/Abbvie (F), Ascidian (F), Biogen (F), Janssen (F), PYC Therapeutics (F), Thea/Sepulbio (F); RxSight (I); A.T. Fahim, Johnson & Johnson (C); J.G. Flannery, None; R. Gattegna, None; J.R. Heckenlively, None; E. Héon, Novartis (C), Janssen (C), Sepul Bio (C); A. Iannaccone, Astellas Pharmaceuticals (E); N.W. Khan, None; S. Khateb, filed patent on retinal vascular diseases therapies (P); H. Klassen, jCyte (S, I, O, P, R); B.P. Leroy, Bayer (C), Nightstar Therapeutics/Biogen (C), IVERIC bio (C), Novartis Pharma (C), RegenX Bio (C), Vedere Bio (C); Novartis (R), Spark Therapeutics (R); GenSight Biologics (F), ProQR Therapeutics (F); D. Marangoni, None; M. Michaelides, Ascidian (C), Astellas (C), AAVantgarde (C), Blue Gen Therapeutics (C), Endogena (C), Frest (C), Janssen (C, R), MeiraGTx (C, R, I), Octant (C), Ray Therapeutics (C), Restore Vision (C), Sepul Bio (C), 2C Tech Corp (C), Thea (C); D.C. Musch, Belite Bio (S), Mactel Group NTMT-03 trial (S), NEI intramural branch clinical trials (S); M.E. Pennesi, 4D Molecular Therapeutics (C), Akous (C), Aldeyra (C), Adebaran (C, I), Alia Therapeutics (C), Ascidian (C), Atsena (C, I), Astellas (C), Alkeus (C), Beacon Therapeutics (C), Biocryst (C), Biogen (F), Bluegen Therapeutics (C), BlueRock (C), Coave (C), Editas (C, F), EnterX (I), Endogena (C, I), Frest (C), Gensight (C), GenKore (C), Ingel Therapeutics (C, I), jCyte (C), Janssen (C), Kala Therapeutics (C), Kiora (C, I), Naciuty Pharmaceuticals (C, I), Nanoscope (C), Ocugen (C, I), Ora (C), Prime Editing (C), PTC Therapeutics (C), PYC Therapeutics (C), Ray Therapeutics (C), RestoreVision (C), Sparing Vision (C), SpliceBio (C), Spotlight Therapeutics (C), Stuart Therapeutics (I), Thea (C), Theranexus (C), Visgenx (C, I), ZipBio (C, I); S.M. Petersen-Jones, None; E.A. Pierce, Astellas (C), Merck (C), Sanofi-Genzyme (C), Wave Therapeutics (C); GenSight Biologics (S), Odylia Therapeutics (S), Opsis Therapeutics (S), Sana Biotechnology (S); CRISPR Therapeutics (F), Spark Therapeutics (F); Editas Medicine (F), MeiraGTx (F), ProQR Therapeutics (F), filed patents on gene and genetic therapies (P); R.C. Rao, Astellas (C), Luxa Biotechnology (I), Regeneron (C), Sumitomo Dainippon Pharma Co. Ltd. (C); J.-A. Sahel, Pixium VisionLaScience (IS, I), GenSight Biologics (I, O, P, S, I), SparingVision (S, I, O, P,S); Prophesee (I, O), Chronolife (I, O); Tilak (I, O), Avista Tx (I, O, C, S), SharpEye (I, O, P), Cilensee (I, O), Tenpoint (I, O, C), Netramind (I, O, P, S), UPMC Enterprises (C) , LightStone Ventures (I, C), RDFund (S); P.A. Sieving, None; E. Strettoi, Allergan (F); C.R. Strong, None; T.J. Wubben, Insmed (C), MeiraGTx/Janssen (F), ONL Therapeutics (F), Ocutheia, Inc. (C, O, I), filed patent on gene-agnostic therapy (P); P. Yang, 4D Molecular Therapeutics (C, F), AAVantarde Bio (C), Acucela (F), Adverum (C), Ascidian (F), Astellas (C), Atsena (F), Beacon Therapeutics (C, F), Biogen (F), BlueRock Therapeutics (C), Editas (F), Eluminex Biosciences (C), Endogena (F), Iveric bio (F), Janssen (C), MieraGTx (C), Nanoscope Therapeutics (C), Ocugen (F), PYC (F), Reneuron (F), Saliogen (C), Sanofi (F), Spark (F), SpliceBio (F), TeamedOn (C); D.N. Zacks, ONL Therapeutics (E, F, I, O, P)

References

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Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

Affiliations

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous