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.

Quick links

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

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    • Steven Bailey, M.D.
    • Ophthalmology, Macular Degeneration and Retina and Vitreous Disease Portland and The Dalles

    • Appointments and titles

      • Professor of Ophthalmology, School of Medicine

    • Specialty

      • Ophthalmology
      • Macular Degeneration
      • Retina and Vitreous Disease
      • Retina Surgery

    • Appointments and titles

      • Assistant Professor of Ophthalmology, School of Medicine
      • Member, M.D./Ph.D. Program Committee, School of Medicine

    • Specialty

      • Ophthalmology
      • Ophthalmology
      • Retina and Vitreous Disease
      • Retinal Dystrophies Congenital/Genetic Disease
    • Andreas K. Lauer, M.D.
    • Margaret Thiele Petti and August Petti Chair of Ophthalmology
    • Ophthalmology, Macular Degeneration and Retina and Vitreous Disease Portland

    • Appointments and titles

      • Professor of Ophthalmology, School of Medicine
      • Director, Casey Eye Institute, School of Medicine
      • Chair, Ophthalmology, School of Medicine
      • Margaret Thiele Petti and August Petti Chair of Ophthalmology, Casey Eye Institute, School of Medicine

    • Specialty

      • Ophthalmology
      • Macular Degeneration
      • Retina and Vitreous Disease
      • Retina Surgery

    • Appointments and titles

      • Professor of Ophthalmology, School of Medicine

    • Specialty

      • Ophthalmology
      • Retinal Dystrophies Congenital/Genetic Disease
    • Paul Yang, M.D., Ph.D.
    • Chief, Paul H. Casey Ophthalmic Genetics Division
    • Ophthalmology and Retinal Dystrophies Congenital/Genetic Disease Portland

    • Appointments and titles

      • Associate Professor of Ophthalmology, School of Medicine
      • Chief, Paul H. Casey Ophthalmic Genetics Division
      • Martha and Eddie Peterson Endowed Professor

    • Specialty

      • Ophthalmology
      • Retinal Dystrophies Congenital/Genetic Disease

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.

To find clinical trials at Casey Eye Institute that are currently recruiting, search clinicaltrials.gov.

Clinical trials

Clinical trials for retinitis pigmentosa

EA-2353 RP Treatment Trial – Open to enrollment
A phase 1/2 trial to evaluate the safety, efficacy, and tolerability of 4 weekly, subsequent injections of EA-2353 in patients with retinitis pigmentosa.
PI: Paul Yang, MD, PhD

OCU400-101 Gene Therapy for RP associated with NR2E3 and RHO mutations and LCA associated with CEP290 mutation - Open to enrollment
A phase 1/2 trial to evaluate the safety and efficacy of subretinally administered gene therapy treatment OCU400 for subjects with retinitis pigmentosa associated with NR2E3 and RHO mutations, and in patients with LCA due to mutations in the CEP290 gene.
PI: Paul Yang, MD, PhD

Retinitis Pigmentosa-11 PRPF31 Natural History Study - Open to enrollment
A natural history study designed to characterize PRPF31 mutation-associated retinal dystrophy
PI: Lesley Everett, MD, PhD

AGTC HORIZON and SKYLINE: XLRP RPGR Gene Therapy - Ongoing but closed to enrollment
A phase 1/2 study to evaluate the safe and efficacy of AGTC-501, and a phase 2 randomized study comparing two doses of AGTC-501 gene therapy for RPGR X-linked retinitis pigmentosa. 
PI: Paul Yang, MD, PhD

4D-125 Gene Therapy for X-Linked Retinitis Pigmentosa - Ongoing but closed to enrollment
A phase 1/2 study evaluating the safety and tolerability of intravitreally administered 4D-125 gene therapy for patients with RPGR related x-linked retinitis pigmentosa
PI: Paul Yang, MD, PhD

ReNeuron Human Retinal Progenitor Cell Therapy - Ongoing but closed to enrollment
A phase 1/2, first in human, prospective study of the safety and tolerability of subretinal transplanted human retinal progenitor cells (hRPC) in patients with retinitis pigmentosa
PI: Mark Pennesi, MD, PhD

Pro-EYS: Rate of Progression in EYS-related Retinal Degeneration - Ongoing but closed to enrollment
A natural history study of designed to characterize retinal degeneration associated with biallelic pathogenic mutations in the EYS gene.
PI: Mark Pennesi, MD, PhD

XIRIUS: XLRP RPGR Gene therapy - Closed/Completed
The clinical evaluation of individuals with x-linked retinitis pigmentosa (XLRP) caused by the RPGR ORF15 mutations.
PI: Mark Pennesi, MD, PhD

XOLARIS: XLRP RPGR Natural History Study - Closed/Completed
A natural history study that aims to gain better understanding of disease progression over time in subjects with X-linked retinitis pigmentosa (XLRP) caused by RPGR mutations.
PI: Mark Pennesi, MD, PhD

Ciliary Neurotrophic Factor Device Trial - Closed/Completed
A phase 2/3 study designed to investigate whether CNFT improves or lessens the decline of visual field sensitivity relative to the fellow control eye in participants with retinitis pigmentosa

Safety and Immunogenicity of CNTO 2476 for advanced RP - Closed/Completed
A phase 1 study evaluating the safety of a single, unilateral subretinal administration of CNTO 2476 in advanced retinitis pigmentosa

Oral Valproic Acid Treatment for ADRP - Closed/Completed
A phase 2 randomized, placebo-controlled trial of oral valproic acid for retinitis pigmentosa

Clinical trials for Usher Syndrome

Ushstat- Ongoing
An open-label study to determine the long-term safety, tolerability and biological activity of SAR421869 in patients with Usher syndrome Type 1B
PI: Paul Yang, MD, PhD

Usher Syndrome Type 1B Gene Therapy – Closed/ Completed
A phase 1/2 study to evaluate the safety and tolerability of ascending doses of subretinal injections of SAR421869 in patients with Usher type 1b
PI: Paul Yang, MD, PhD

Clinical trials for Leber Congenital Amaurosis

OCU400-101 Gene Therapy for RP associated with NR2E3 and RHO mutations and LCA associated with CEP290 mutation - Open to enrollment
A phase 1/2 trial to evaluate the safety and efficacy of subretinally administered gene therapy treatment OCU400 for subjects with retinitis pigmentosa associated with NR2E3 and RHO mutations, and in patients with LCA due to mutations in the CEP290 gene.
PI: Paul Yang, MD, PhD

Editas: LCA CEP290 Gene Therapy - Ongoing but Paused to enrollment
A phase 1/2 study investigating the safety and tolerability of EDIT-101 subretinal gene therapy treatment in adult and pediatric participants with LCA type 10 from CEP290-related retinal degeneration.
PI: Mark Pennesi, MD, PhD

Atsena: LCA GUCY2D Gene Therapy - Ongoing but closed to enrollment
A phase 1/2 study designed to evaluate the safety and tolerability of unilateral, subretinally injected SAR439483 gene therapy in subjects with Leber Congenital Amaurosis (LCA) caused by autosomal recessive GUCY2D mutations.
PI: Paul Yang, MD, PhD

Luxturna Safety Study - Ongoing but closed to enrollment
A post-authorization observational safety registry study for patients treated with Luxturna (voretigene neparvovec) in the US.
PI: Paul Yang, MD, PhD

Leber Congenital Amaurosis CEP290 Natural History Study - Closed/Completed
A natural history study characterizing the clinical phenotype of participants with CEP290-related retinal degeneration with heterozygous or homozygous intron 26 c.2991+1655A>G mutations

ProQR: LCA CEP 290 RNA Therapy - Closed/Completed
A phase 2/3 study investigating the efficacy, safety, tolerability and systemic Exposure of QR-110 in Subjects with Leber’s Congenital Amaurosis (LCA) due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene.
PI: Mark Pennesi, MD, PhD

Clinical trials for Choroideremia

Choroideremia Natural History Study - Closed/Completed
A natural history study aimed to gain a better understanding of the progression of choroideremia (CHM) and add to the knowledge base for this rare disease.
PI: Mark Pennesi, MD, PhD

STAR: Choroideremia Gene Therapy - Closed/Completed
A phase 3 study investigating the efficacy of AAV2-REP1 gene therapy in one treatment eye for choroideremia 
PI: Mark Pennesi, MD, PhD

GEMINI: Choroideremia Gene Therapy – Closed/ Completed
A phase 2 study evaluating the safety of bilateral, sequential subretinal administration of AAV2-REP1 gene therapy for choroideremia
PI: Mark Pennesi, MD, PhD

Clinical trials for Stargardt Disease

Long-term Follow Up for Stargardt Gene Therapy - Ongoing but closed to enrollment
An open-label study to evaluate the long-term safety, tolerability, and biological activity of SAR422459 in patients with Stargardt’s macular degeneration
PI: Paul Yang, MD, PhD

Emixustat treatment for Geographic Atrophy from Stargardt Disease - Closed/Completed
A phase 3 study investigating the efficacy and safety of Emixustat Hydrochloride with Placebo for the treatment of macular atrophy secondary to Stargardt Disease
PI: Mark Pennesi, MD, PhD

Stargazer: Oral treatment trial of STG-001 for Stargardt Disease - Closed/Completed
A phase 2 study to evaluate the safety, pharmacokinetics and pharmacodynamics of oral STG-001 in subjects with autosomal recessive Stargardt disease caused by ABCA4 gene mutations
PI: Mark Pennesi, MD, PhD

Clinical trials for X-Linked Retinoschisis

Atsena XLRS: Pre-start
A Phase 1/2, Open-Label, Dose Escalation and Dose Expansion Study to Evaluate the Safety and Tolerability of ATSN-201 Gene Therapy in Male Subjects with RS1-Associated XLRS.
PI: Lesley Everett, MD, PhD

AGTC: XLRS RS1 Gene Therapy Trial - Ongoing but closed to enrollment
A phase 1/2 study to evaluate safety and efficacy of rAAV2tYF-CB-hRS1 subretinal gene therapy injections in patients with RS1 x-linked retinoschisis.
PI: Mark Pennesi, MD, PhD

X-linked Retinoschisis (RS1) Natural History Study - Closed/Completed
A prospective longitudinal study to collect and review disease progression data on subjects with X-linked retinoschisis caused by RS1 gene mutations.
PI: Mark Pennesi, MD, PhD

Clinical trials for Achromatopsia

Achromatopsia CNGB3 Gene Therapy and Achromatopsia CNGA3 Gene Therapy - Ongoing but closed to enrollment
Phase 1/2 studies investigating the safety and tolerability of subretinal gene therapy treatment for two mutations of achromatopsia.
PI: Mark Pennesi, MD, PhD

Achromatopsia CNGB3 Natural History Study - Closed/Completed
A natural history study to clinically characterize and genotype a population of individuals with achromatopsia caused by CNGB3 mutations.
PI: Mark Pennesi, MD, PhD

Clinical trials for other retinal dystrophies

UniRare: Pre-start
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants
PI: Mark Pennesi, MD, PhD

SOLSTICE: Ongoing
A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral VectorEncoding RPGR (AAV8-RPGR) in an Antecedent Study
PI: Mark Pennesi, MD, PhD

The Natural History of LCHAD Retinopathy - Ongoing but closed to enrollment
A prospective natural history study designed to evaluate the retinal structure and function among a cohort of 40 LCHAD or TFP deficient subjects.
PI: Mark Pennesi, MD, PhD

Pilot Maze Study - Closed/Completed
A Staged, Multicenter Pilot Study to Develop and Validate Novel Orientation and Mobility Tests to Assess Functional Vision in Patients with Low Vision Due to Advanced Inherited Retinal Degeneration
PI: Mark Pennesi, MD, PhD

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