What is inherited retinal disorder?

Inherited retinal diseases (IRDs) are a group of rare blinding conditions caused by one of more than 270 different genes. Some people living with IRDs experience a gradual loss of vision, eventually leading to complete blindness. Others may be born with or experience vision loss in infancy or early childhood.

What does spark therapeutics do?

At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases.

What is Luxturna used to treat?

The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness.

How common is Choroideremia?

The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 people. However, it is likely that this condition is underdiagnosed because of its similarities to other eye disorders. Choroideremia is thought to account for approximately 4 percent of all blindness.

What is the most common inherited retinal disease?

Retinitis pigmentosa is the common inherited disorder of the retina and is now known to be caused by a large number of genes with differing functions. Age-related macular degeneration which has a genetic basis is the most common cause of blindness in the Western World.

How is an inherited retinal disease treated?

Treatment Pipeline FDA-approved Luxturna is the first approved gene therapy for an inherited retinal disorder in the U.S. and is also approved for use in Europe Union. Developed by Spark Therapeutics and the Children’s Hospital of Philadelphia, Luxturna delivers a functional copy of the RPE65 gene into the eye.

Is spark therapeutic public?

(“Spark”) (NASDAQ:ONCE) announced today that it has commenced an underwritten public offering of 3,500,000 shares of its common stock pursuant to an automatically effective shelf registration statement that has been filed with the Securities and Exchange Commission.

What happened to Spark Therapeutics?

25, 2019 (GLOBE NEWSWIRE) — Spark Therapeutics (NASDAQ: ONCE), a fully integrated, commercial gene therapy company dedicated to challenging the inevitability of genetic disease, announced today that it has entered into a definitive merger agreement for Roche to fully acquire Spark Therapeutics at a price of $114.50 per …

How effective is Luxturna?

Injected directly into the retina, Luxturna is designed to be curative, delivering a functional copy of the gene to spur production of the needed RPE65 protein. In clinical testing used to secure U.S. approval, Luxturna improved sight in 27 of 29 patients after at least one year of follow-up.

Does Luxturna cure blindness?

Luxturna is the first approved treatment for an IRD in the US, Europe and hopefully soon in Canada. Luxturna is a gene therapy for individuals with RP or LCA who have mutations in both copies of the RPE65 gene. The therapy is not a cure but can improve vision and may slow the progression of vision loss.

What is the most common inherited visual abnormality?

Retinitis pigmentosa is one of the most common inherited diseases of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 people in the United States and Europe.

Who is Spark Therapeutics and what do they do?

Spark Therapeutics, Inc. is a developer of gene therapy treatments, which treat debilitating genetic diseases. It is a subsidiary of Hoffmann-La Roche .

How does Invitae test for inherited retinal disease?

Invitae is offering a genetic testing program sponsored by Spark® Therapeutics at no charge for individuals suspected of having an IRD. This program provides access to a broad inherited retinal disease genetic panel that tests approximately 300 genes for variants that are associated with IRDs. *Subject to terms and conditions of program.

How is Luxturna used to treat inherited retinal disease?

LUXTURNA (voretigene neparvovec-rzyl) is a prescription gene therapy product used for the treatment of patients with inherited retinal disease due to mutations in both copies of the RPE65 gene, which can only be confirmed through genetic testing.

Is there a gene therapy for inherited retinal disease?

LUXTURNA is a one-time gene therapy for individuals with an inherited retinal disease due to mutations in both copies of the RPE65 gene. Individuals must also have enough remaining cells in the retina. Get more information on how this gene therapy works.