NIH inventors are seeking a licensee and/or collaborator for a gene therapy to increase melanin production in patients with oculocutaneous albinism (OCA). OCA is characterized by decreased or absent pigmentation in the hair, skin, and eyes. This lack of pigmentation, caused by insufficient melanin production, results in abnormal eye development and impaired vision. OCA1 is the most common type of albinism and is caused by mutations in the tyrosinase (TYR) gene. OCA1A patients suffer a complete loss of melanin caused by the inactivity of the tyrosinase enzyme. OCA1 affects 1 in 40,000 people worldwide, however, there is currently no treatment.

NIH inventors have developed a gene therapy method for inducing pigmentation in patients who have OCA1A by administering the normal copy of the human tyrosinase gene 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 include:

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

If you are interested in learning more or contacting the licensing manager, please view the abstract: Tyrosinase Gene Therapy for Oculocutaneous Albinism type 1A.