New genetic medicine offers life-changing vision improvements for blind children

Gene Therapy Offers Hope for Severely Visually Impaired Children

Four young children have experienced remarkable improvements in their vision following a groundbreaking gene therapy treatment developed by UCL Institute of Ophthalmology and Moorfields Eye Hospital, with support from MeiraGTx. These children were born with a severe form of retinal dystrophy caused by a deficiency in the AIPL1 gene, leaving them with only the ability to distinguish between light and darkness.

turning Darkness into Light

The condition affects the retinal cells, causing them to malfunction and eventually die, leading to legal blindness from birth. This innovative treatment aims to restore functionality to these cells by delivering healthy copies of the AIPL1 gene directly into the retina.

The procedure involves a minimally invasive keyhole surgery were a harmless virus carrying the therapeutic gene is injected into the eye. This virus acts as a delivery system, enabling the healthy gene to penetrate the retinal cells and replace the defective one.

Early Treatment Yields Promising Results

This groundbreaking treatment was initially tested on four children from overseas, each receiving the therapy in one eye only to assess its safety.

“Sight impairment in young children has a devastating effect on their development. Treatment in infancy with this new genetic medicine can transform the lives of those most severely affected,” said professor James Bainbridge, professor of retinal studies at UCL Institute of Ophthalmology and consultant retinal surgeon at Moorfields Eye Hospital.

Over three to four years, all four children exhibited remarkable improvements in the treated eye. However, their untreated eye continued to deteriorate, highlighting the meaning of early intervention.

A Paradigm shift in Treating Genetic Blindness

These findings, published in The Lancet, demonstrate the potential of gene therapy to dramatically improve sight in children with rare and severe forms of genetic blindness.This builds on the success of gene therapy for another form of genetic blindness (RPE65 deficiency) which has been available on the NHS since 2020.

“We have, for the first time, an effective treatment for the most severe form of childhood blindness, and a potential paradigm shift to treatment at the earliest stages of the disease. The outcomes for these children are hugely impressive and show the power of gene therapy to change lives,” said Professor Michel Michaelides, professor of ophthalmology at the UCL Institute of Ophthalmology and consultant retinal specialist at Moorfields Eye hospital.

A Parent’s Perspective

Jace, a child from Connecticut, USA, was diagnosed with an aggressive form of Leber Congenital Amaurosis (LCA) and underwent the experimental treatment. Jace’s mother, DJ, shared their experience: “After the operation, Jace was promptly spinning, dancing and making the nurses laugh. He started to respond to the TV and phone within a few weeks of surgery and, within six months, could recognize and name his favourite cars from several metres away; it took his brain time, though, to process what he could now see. Sleep can be difficult for children with sight loss, but he falls asleep much more easily now, making bedtimes an enjoyable experience.”

Jace’s father, Brendan, added, “We are so grateful for this opportunity, and for the care he’s received. When first offered the chance to participate, we wanted to give him everything we could, for him to successfully navigate the world. We also understood the huge implications for future research, and how participating could help others. It has been a phenomenally positive experience, and the results are nothing short of spectacular.”

Building a Brighter Future

Professor Robin Ali, UCL Institute of Ophthalmology and the co-lead of the UK National Gene Therapy Center, emphasized the crucial role of UK manufacturing facilities and regulatory bodies in making advanced therapies accessible to patients with rare conditions. “This work demonstrates the importance of UK clinical academic centre manufacturing facilities and MHRA (UK Medicines and Healthcare products Regulatory Agency) MSLs in making advanced therapies available to people with rare conditions.”

The research team is now working to make this transformative treatment more widely available, bringing hope to more children with this debilitating condition.

The development of this gene therapy is a testament to the collaborative efforts of researchers, clinicians, and funding bodies like the National Institute for Health and Care Research (NIHR), MeiraGTx, and Moorfields Eye Charity.

How does the gene therapy being developed at UCL Institute of Ophthalmology and Moorfields eye Hospital work to restore functionality to damaged retinal cells in children with severe retinal dystrophy?

Gene Therapy Offers Hope for Severely Visually Impaired Children

An Interview with Professor James Bainbridge, Retinal Studies Specialist

Archyde: Professor Bainbridge, you have been instrumental in developing a groundbreaking gene therapy for children with severe retinal dystrophy. Can you tell our readers about this innovative treatment?

Professor Bainbridge: Certainly! We, at UCL Institute of Ophthalmology and Moorfields Eye Hospital, have developed a gene therapy that targets a specific form of retinal dystrophy caused by a deficiency in the AIPL1 gene. this condition leaves children with only light perception, severely impacting their growth and quality of life. Our treatment aims to restore functionality to the damaged retinal cells by delivering healthy copies of the AIPL1 gene directly into the retina.

Archyde: How does the procedure work in layman’s terms?

Professor Bainbridge: It’s quite fascinating, really. We use a harmless virus as a delivery system. This virus carries the therapeutic gene and,during a minimally invasive keyhole surgery,we inject it into the eye.The virus then infects the retinal cells, allowing the healthy gene to penetrate and replace the defective one. It’s like giving the cells the blueprint they need to function properly again.

Early Intervention Yields Promising Results

Archyde: Your research has shown remarkable improvements in children who received this treatment. can you share some of these success stories?

Professor Bainbridge: Of course.We tested this therapy on four children from overseas, each receiving the treatment in one eye. Over three to four years, we’ve seen remarkable improvements in the treated eye. A child from Connecticut, Jace, can now recognize and name his favorite cars from several meters away, something he couldn’t do before. Though, we’ve also seen the untreated eye continue to deteriorate, highlighting the importance of early intervention.

Archyde: That’s truly amazing. How does this treatment compare to existing methods for treating genetic blindness?

Professor Bainbridge: This treatment is a potential paradigm shift. While we’ve had triumphant gene therapies for other forms of genetic blindness, like RPE65 deficiency, this is the first effective treatment for the most severe form of childhood blindness. moreover, it opens up the possibility of treating these conditions at the earliest stages of the disease.

A parent’s Viewpoint

Archyde: We’ve heard from Jace’s parents, DJ and Brendan. They shared that the results have been ‘nothing short of spectacular.’ How has this experience been for the families involved?

Professor Bainbridge: It’s been incredibly rewarding. Seeing these children and their families experience such joy and hope after so much uncertainty and struggle is truly humbling. DJ and Brendan’s sentiments echo those of other families involved in the trial. It’s not just about improving sight; it’s about giving these children a chance at a normal life.

Building a Brighter Future

Archyde: Looking ahead, what are the next steps for this treatment?

Professor Bainbridge: Our goal is to make this transformative treatment more widely available.We’re working to overcome regulatory and manufacturing hurdles to bring hope to more children with this debilitating condition. We’re grateful for the collaborative efforts of our research team, funding bodies like the NIHR, and industry partners like MeiraGTx, who have made this progress possible.

Archyde: If someone is interested in learning more about this treatment, were can they find more details?

Professor Bainbridge: They can visit our website at UCL Institute of Ophthalmology or contact Moorfields Eye Hospital for more information.

Archyde: professor Bainbridge, thank you for your time and for the incredible work you and your team are doing to change the lives of these children and their families.

Professor Bainbridge: It’s my pleasure. It’s why we do what we do.