Gene Therapy Center at Casey Eye Institute

Father holding son at sunset

New treatments bring hope to inherited eye diseases

Promising new treatments are being studied and developed for people with genetic eye diseases of the retina. Called gene therapy, this treatment involves replacing non-working genes with healthy copies to slow or halt vision loss. 

“We are entering an era of new therapy for those who otherwise would become irreversibly blind. For the first time, we are offering hope for these patients and their families and improving quality of life.”

- Mark Pennesi, M.D., Ph.D., Associate Professor, Chief, Ophthalmic Genetics Service

Referring providers

If you wish to refer a patient to a clinical trial call 503-494-0020.

What is gene therapy?

Some eye diseases are caused by a defect in a single gene passed down through family members. Most affect the retina (the light-sensing tissue lining the back of the eye) or the choroid (the layer of blood vessels between the retina and white part of the eye). The abnormal gene keeps certain eye cells from working properly, which can lead to vision problems. Sometimes these problems get worse over time.  

In gene therapy, these faulty genes are replaced with healthy copies to correct the underlying cause of the disease –potentially for a lifetime. The working genes are delivered to eye cells in the retina during a same-day procedure.  

Thanks to advancements in medical science and technology –particularly the mapping of the human genome –researchers have been able to pinpoint specific genes associated with a number of inherited eye disorders of the retina. These include:

  • Leber congenital amaurosis (LCA) 
  • Usher syndrome 
  • Stargardt disease 
  • Retinitis Pigmentosa 
  • X-Linked Retinoschsis  

Our expertise 

Casey's standing as a premier center for gene therapy research is built on three decades of unparalleled expertise studying and caring for people with inherited eye disease. As a major referral center, our ophthalmic genetics program has the personnel, structure and technology to take on the many challenges of gene therapy:  

  • Physician-scientists and eye surgeons with advanced training and experience in genetic eye disorders and diseases of the retina. While few eye centers have more than one ophthalmic geneticist on staff, Casey has three. 
  • The focused, coordinated care of a team of genetic counselors, study coordinators and diagnostic technicians 
  • Cutting edge diagnostic techniques that enable researchers to objectively measure whether a gene medication is working 

Our doctors

Ophthalmic genetics clinic

If you have questions about a diagnosis or wish to see one of our doctors in the Ophthalmic genetics clinic, please contact us to make an appointment at 503-494-8386. Learn more about our clinic.

Getting treatment

OHSU Casey Eye Institute is able to offer gene therapy treatment to patients with inherited retinal disease due to mutations in both copies of the RPE65 gene. This is the first FDA approved gene therapy treatment, called Luxturna, but we hope to offer more options soon. Learn more about getting gene therapy treatment.

Dr. Pennesi and his research team study ocular genetics and inherited eye diseases.

Clinical trials

Individuals diagnosed with a genetic eye disease may be a candidate for a clinical trial using gene therapy. OHSU Casey Eye Institute is internationally renowned for its outstanding research and patient care services for inherited eye disorders, including leading-edge investigations like gene therapy clinical trials. 

Casey is conducting more gene therapy clinical trials than any other institution in the world and is the first to test this groundbreaking approach for several inherited disorders of the retina. We enroll study patients from across the United States and throughout the world. Findings from some earlier studies of gene therapy are encouraging, and show that the treatment was safe and helpful for vision. 

Gene therapy is a new treatment intended to help people with specific genetic diseases of the eye. The appropriate treatment of individual cases varies greatly depending on the patient's medical and surgical history. The information expressed on this website is not medical advice. It is meant only to inform health care professionals and patients about the current status of gene therapy treatment, research and related services and activities at the Casey Eye Institute. Before making any medical decisions, patients are advised to consult with their own doctors. 

Clinical trials are research studies to learn if a new medication or treatment is safe and effective. They usually are conducted in phases over the course of many years before it is approved for use in the general population.  

Taking part in a clinical trial can be a very gratifying experience. By participating in this research, you help further the development of new treatments that may benefit you and future generations. 

Being part of a gene therapy study requires a commitment of time. You will be asked to come to Casey Eye Institute for regularly scheduled medical appointments during a specific time period. You also will need to complete a number of consent forms.   

Want to learn what a clinical trial is or how they work? Understanding clinical trials.

At OHSU Casey Eye Institute, we are a leader in gene therapy research, bringing help and hope to those facing sight impairment and blindness. Casey is conducting more gene therapy clinical trials than any other institution in the world and is the first to test this groundbreaking approach for several inherited disorders of the retina. 

Gene therapy is a treatment that involves replacing non-working genes with healthy copies to slow or halt vision loss. Individuals diagnosed with a genetic eye disease may be a candidate for a clinical trial using gene therapy. We enroll study patients from across the United States and throughout the world.

If you wish to get involved with our clinical trials, please review the criteria for each study and have your genetic test already completed with a diagnosis from a physician. You may then call or 503-494-0020 or email  us to start the evaluation process. 

Achromatopsia (CNGB3) Gene Therapy Trial

The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. This is the first study that aims to treat Achromatopsia disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy. 

View more information

Achromatopsia (CNGA3) Gene Therapy Trial 

The purpose of this study is to learn about a new gene therapy that may help patients with Achromatopsia. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy. 

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Choroideremia: Retinal Gene Therapy for Choroideremia

The purpose of this study is to learn more about choroideremia (CHM). In this study, we will learn about an investigational drug called AAV2-REP1. We want to learn if the study drug can maintain or improve your vision, whether the study drug is safe and what side effects are caused by the study drug

Learn more about this study.

Leber Congenital Amaurosis: Allergan Leber Congenital Amaurosis (CEP290) Gene Therapy Trial

The purpose of this study is to learn about a new gene therapy for patients with Leber Congenital Amaurosis caused by the CEP290 mutation. This is the first study that aims to treat LCA10 by gene therapy and the study investigators want to find out whether it is safe for use in humans.  This trial is sponsored by Allergan.

Learn more about this trial.

Leber Congenital Amaurosis (CEP290) Natural History Study

The purpose of this study is to help ophthalmologists and scientists learn about the natural history of CEP290 related retinal degeneration. In medicine, a natural history study is a study that follows a group of people over time who have a specific medical condition or disease.

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Leber Congenital Amaurosis: ProQR Leber Congenital Amaurosis (CEP290) RNA Therapy Trial

The purpose of this study is to learn about QR-110, a new trial medication for patients with Leber’s Congenital Amaurosis caused by the CEP290 mutation. This study is being done to find out if the study drug works and is safe in patients with LCA10.  This trial is sponsored by ProQR Therapeutics.

Learn more about this trial.

Retinitis Pigmentosa: ProQR RNA Therapy Trial for Patients with Autosomal Dominant Retinitis Pigmentosa

The purpose of this study is to learn about QR-1123, a study drug for patients with Autosomal Dominant Retinitis Pigmentosa (adRP) caused by the P23H mutation in the RHO gene. The study is looking to find out whether the study drug is safe in patients with adRP and whether the study drug improves these patients’ vision. This trial is sponsored by ProQR Therapeutics.

Learn more about this study.

Stargardt Disease: Acucela 4429-301 Emixust for Stargardt Disease

The purpose of this study is to learn about a new drug that may help patients with Stargardt Macular Degeneration.

View more information about this study.

Usher Syndrome Type 2A (USH2A) Natural History Study 

The purpose of this research study is to learn more about Usher Syndrome type 2A and Retinitis Pigmentosa caused by specific changes in the USH2A gene and how these conditions affect a person's eyes and vision. 

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X-linked Retinitis Pigmentosa: AGTC X-linked Retinitis Pigmentosa (RPGR) Natural History Study

The purpose of this study is to learn more about a condition called X-Linked Retinitis Pigmentosa (XLRP) caused by changes in the RPGR gene. The study investigators want to find out how changes in the RPGR gene affect vision, and what tests are more helpful for tracking changes in a person's eyes and vision.This study is sponsored by AGTC.

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X-Linked Retinitis Pigmentosa (RPGR) Gene Therapy Trial 

The purpose of this study is to learn about a new investigational gene therapy that may help patients with XLRP. The study investigators want to find out whether it is safe and to see if it can improve your vision and other symptoms of XLRP. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy. This study is sponsored by AGTC. 

View more information

X-Linked Retinitis Pigmentosa (RPGR) Gene Therapy Trial

The purpose of this study is to learn about a new investigational gene therapy for patients with XLRP. The study investigators want to find out whether it is safe and to see if it can improve your vision and other symptoms of XLRP. The gene therapy is given by a surgical injection into the retina (the lining of the back of the eye that detects light) of one eye. The eye with worse vision will receive the gene therapy. This trial is sponsored by Nightstar

X-linked Retinitis Pigmentosa: Nightstar X-Linked Retinitis Pigmentosa (RPGR) Natural History Study

The purpose of this study is to learn more about a condition called X-linked retinitis pigmentosa (XLRP). The study investigators want to gain a better understanding of disease progression over time in subjects with XLRP. This study is sponsored by Nightstar. 

View more information

These studies are ongoing but no longer seeking new participants.

Choroideremia (CHM) Natural History Study

The purpose of this study is to learn more about Choroideremia; how this condition affects a person’s eyes and vision and add to the knowledge base for this rare disease.

View more information

Stargardt's Macular Degeneration (ABCA4) Gene Therapy Trial

The purpose of this study is to learn about a new gene therapy that may help patients with Stargardt's Macular Degeneration (SMD). This is the first study that aims to treat Stargardt's disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection underneath the retina of one eye. The eye with worse vision will receive the gene therapy. 

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Usher Syndrome Type 1B (MYO7A) Gene Therapy Trial

The purpose of this study is to learn about a new gene therapy being studied in patients with Retinitis Pigmentosa (RP) as a result of Usher Syndrome.This is the first study that aims to treat RP due to Usher Syndrome by gene therapy.The study investigators want to find out if UshStat is safe for use in humans.The gene therapy is given by surgical injection underneath the retina of one eye.The eye with worse vision will receive the gene therapy.

View more information

X-linked Retinoschisis (RS1) Gene Therapy Trial

The purpose of this study is to learn about a new gene therapy that may help patients with X-Linked Retinoschisis (XLRS).  This is the first study that aims to treat XLRS disease by gene therapy. The study investigators want to find out whether it is safe for use in humans. The gene therapy is given by a surgical injection into the vitreous (a thick, gel-like transparent substance that fills the center of the eye) of one eye. The eye with worse vision will receive the gene therapy. 

View more information

Achromatopsia (CNGB3) Natural History Study

The purpose of this study is to learn about how Achromatopsia, caused by the CNGB3 gene, affects a person's eyes and vision. Specifically the aim for this natural history study is to learn how this condition affects a patient's eyes and vision over a period of time and what tests will be most helpful for tracking vision changes. 

Ciliary Neurotrophic Factor Device Trial

This study investigated an implant that releases ciliary neurotrophic factor (CNTF), a protein capable of protecting the light-sensitive cells in the eye from further degeneration, in participants with moderate to advanced Retinitis Pigmentosa.  

CNTO

This study investigated cell-based therapy in participants with advanced Retinitis Pigmentosa. 

Leber Congenital Amaurosis (RPE65) Gene Therapy Trial

This study is investigating an experimental gene therapy in patients with LCA caused by mutations (changes) in the RPE65 gene. 

Oral Valproic Acid Treatment for Retinitis Pigmentosa

This study investigated the use of oral Valproic Acid (VPA) in participants with autosomal dominant Retinitis Pigmentosa (RP). 

X-linked Retinoschisis (RS1) Natural History Study

The purpose of this study is to learn more about how to follow changes in vision and other symptoms associated with XLRS. This information is needed for the development of future gene therapy trials.