February 23, 2021: “Ocugen, a biopharmaceutical company focused on discovering, developing, and commercializing gene therapies to cure blindness diseases and developing a vaccine to save lives from COVID-19 announced that on the recommendation of the European Medicines Agency (EMA), the European Commission has granted orphan medicinal product designation for OCU400 (AAV5-hNR2E3), for the treatment of both retinitis pigmentosa (RP) and Leber Congenital amaurosis (LCA).
The prevalence of RP in Europe is estimated at approximately 165,000 patients and the prevalence of LCA in Europe is estimated at approximately 40,000 patients. Globally, the number of people suffering from RP and LCA is estimated to be around 2.0 million and 0.2 million, respectively.
“We believe the granting of this designation by the European Commission validates the potential of our modifier gene therapy platform to treat many inherited retinal diseases (IRDs).
IRDs associated with RP and LCA diseases are caused by mutations in over 175 genes, and it is impractical to develop therapies that are specific to each gene.
OCU400 has the remarkable potential to address a significant number of patients globally who are in desperate need of rescue from these blindness diseases and we are working diligently to move this program to clinic,” said Dr. Shankar Musunuri, Chairman of the Board, Chief Executive Officer, and Co-founder of Ocugen.
“RP and LCA are chronically debilitating groups of IRDs characterized by severe impairment in visual functions starting as young as infancy, often progressing into night blindness and tunnel vision and eventually causing total blindness as early as the patient’s mid-40s.
Since the existing approved therapy only addresses a small percentage of this population, there is an unmet need for new treatment options addressing a wider population of patients with IRDs,” said Dr. Mohamed Genead, Chair of Retina Scientific Advisory Board and Acting Chief Medical Officer of Ocugen.
Nuclear Hormone Receptors such as NR2E3 are important modulators of retinal development and function acting as “master genes” in the retina. NR2E3 is delivered to target cells in the retina using an adeno-associated viral (AAV) vector.
As a potent modifier gene, expression of NR2E3 within the retina may help reset retinal homeostasis, potentially stabilizing cells and rescuing photoreceptor degeneration.
Preclinical results published in Nature Gene Therapy demonstrate the potency of modifier gene therapy to elicit broad-spectrum therapeutic benefits in early and advanced stages of RP including vision rescue in early and advanced stages of the disease.
Orphan medicinal product designation in Europe offers certain benefits to drug developers while they develop drugs intended for safe and effective treatment, diagnosis, or prevention of rare diseases or conditions that impact fewer than 5 in 10,000 patients in the European Union.
Benefits include protocol assistance, reduced regulatory fees, research grants, and 10 years of market exclusivity following regulatory approval.
About Retinitis Pigmentosa
Retinitis pigmentosa is a clinically and genetically heterogeneous group of IRDs characterized by diffuse progressive dysfunction of predominantly rod photoreceptors, with subsequent degeneration of cone photoreceptors, and retinal pigment epithelium (RPE).
Visual impairment usually manifests as night blindness and progressive visual field loss. Its prevalence is 1 in 3,000 to 1 in 5,000. RP may be seen in isolation (typical RP) or in association with systemic disease.
Over 150 gene mutations have been associated with RP and this number represents only 60% of the RP population.
The remaining 40% of RP patients cannot be genetically diagnosed, making it difficult to develop individual treatments.
About Leber Congenital Amaurosis
Leber congenital amaurosis is a family of congenital retinal dystrophies that results in severe vision loss at an early age.
Patients present usually with nystagmus, sluggish or near-absent pupillary responses, severely decreased visual acuity, photophobia and high hyperopia.
It is the most severe retinal dystrophy causing blindness by the age of 1 year.
This dystrophy is a genetically heterogeneous recessive disease affecting 1 in 30,000 to 1 in 81,000 subjects. Mutations in one of more than two dozen genes can cause LCA.”
https://ir.ocugen.com/news-releases/news-release-details/european-commission-grants-ocugen-orphan-medicinal-product
