TYROSINASE Gene Therapy for Oculocutaneous Albinism type 1A

Summary:

The National Eye Institute seeks research co-development partners and/or licensees for an adeno-associated viral gene therapy for Oculocutaneous Albinism type 1A.  

Description of Technology:

Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder characterized by decreased or absent pigmentation in the hair, skin and eyes. The absence of pigmentation is caused by insufficient melanin production – an important pigment providing normal black color to important eye tissues such as the iris and retinal pigment epithelium. Lack of melanin in the eye results in abnormal development and impaired vision. Individuals diagnosed with OCA1, the most common type if albinism worldwide (1:40,000 people), is caused by mutations in the TYROSINASE (TYR) gene. OCA1A patients suffer complete loss of melanin caused by inactivity of the TYROSINASE enzyme. Currently, there is no treatment.  

Scientist at the National Eye Institute (NEI) have developed a gene therapy method for inducing pigmentation in human subjects who have OCA1A by administering the normal copy of human Tyrosinase via an adeno-associated viral (AAV) vector. Experiments in albino rat eyes showed that the AAV-Tyr construct localized to the tissue of interest (retinal pigment epithelium or RPE) and increased melanin production. Introducing the AAV-Tyr construct in OCA1A patient derived RPE also showed increased pigment density, demonstrating the construct’s therapeutic potential to increase melanin production in vivo and in affected patient cells. 

Potential Commercial Applications:

• Gene therapy for OCA1A
• Therapy for other TYROSINASE enzyme deficient eye disease
• Platform for AAV gene therapy for retinal pigment epithelium cells

Competitive Advantages:

• Addresses medical need with no treatment options
• Low damage to eye
• Potential one-time injection