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Home » Rare diseases » How cell and gene therapy offers hope to patients with rare ophthalmic diseases

Avril Daly

Retina International

Marianthi Psaha

Global Head,
Cell and Gene Therapy, Santen

Patients impacted by inherited retinal diseases — a group of rare genetic eye conditions — have had limited treatment options. Now cell and gene therapy offers them new hope.1,2

Inherited retinal diseases (IRDs) are rare genetic eye conditions which all have one thing in common: they affect people in different, debilitating and ultimately devastating ways.  

Physical and mental impact of IRDs 

“There are many types of IRDs, with over 300 causative genes described,” reveals Avril Daly, CEO of Retina International, a global umbrella organisation for patient-led charities and foundations that support research into rare, genetically inherited and age-related forms of retinal disease.  

“For instance, retinitis pigmentosa (RP) affects night and peripheral vision and, globally, 2 million people are estimated to live with it.” Other examples include Stargardt’s disease which affects central vision, the ability to see colour and causes sensitivity to light; and Leber congenital amaurosis (LCA), which can result in vision loss from early childhood.  

The impact of IRDs can be damaging from a practical and psychological standpoint, says Daly. “When a young person is living with this kind of degenerative vision loss, they can’t engage in sporting activities or drive, which can impede the development of social groups. It also affects access to educational and career opportunities — it is fair to say that the wellbeing of those who live with IRDs is seriously impacted across the board.”  

In our Cell & Gene Therapy unit, we are committed to putting patients at the heart of our strategy.

Marianthi Psaha

Using patient-centric approaches  

To compound the issue, the majority of IRD patients are currently living with no available treatment options.3  Now, however, the field of cell and gene therapy offers new hope,1,2  notes Marianthi Psaha, Global Head of Cell & Gene Therapy at Santen, a global pharmaceutical company specialising in ophthalmology. “We want to unlock the power of cell and gene therapies to restore vision, reduce the loss of social and economic opportunities and transform lives,” she explains.   

The cell and gene therapies model is very different from traditional drug development, so it’s crucial for pharma companies involved in this new science to work closely with patient groups. 

“In the field of rare diseases — with its small disease population and limited treatment options — it’s very important to understand the patient perspective and their unmet needs,” says Psaha.   

At Santen, this can include discussions, roundtables and patient visits. “Ultimately, we want to capitalise on our knowledge, skills and capabilities to accelerate the development and delivery of cell and gene therapies that effectively target high unmet medical needs,” says Psaha. “In our Cell & Gene Therapy unit, we are committed to putting patients at the heart of our strategy.”

[1] Wang AL, Knight DK, Vu TT, Mehta MC. Retinitis Pigmentosa: Review of Current Treatment. Int Ophthalmol Clin. 2019 Winter;59(1):263-280.
doi: 10.1097/IIO.0000000000000256. PMID: 30585930.
[2] Zhang Q. Retinitis Pigmentosa: Progress and Perspective. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):265-71. doi: 10.1097/APO.0000000000000227. PMID: 27488069.
[3] Vázquez-Domínguez I, Garanto A, Collin RWJ. Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges. Genes (Basel). 2019 Aug 28;10(9):654. doi: 10.3390/genes10090654. PMID: 31466352; PMCID: PMC6770110.

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