First Gene Therapy for Inherited Disease

The government approved a gene therapy Luxturna™ (voretigene neparvovec-rzyl) for treating children and adults with the rare inherited blindness disorder biallelic RPE65 mutation-associated retinal dystrophy. Approval of the one-time adeno-associated virus vector (AAV)-delivered gene therapy, which a scientist., described in a statement as “a milestone that reinforces the potential of this breakthrough approach in treating a wide-range of challenging disease,” marks the first gene therapy approval for a genetic disease. Spark has not confirmed the cost of treatment, although some commentators are anticipating a $1 million per patient price tag.

The government clearance of Luxturna marks the third approval by the agency for a gene therapy, but the first for an AAV-based treatment. In August this year, the  regulator cleared a cell-based chimeric antigen receptor T-cell (CAR-T) gene therapy Kymriah™ (tisagenlecleucel) for treating refractory or relapsed B-cell acute lymphoblastic leukemia. In October, another CAR-T therapy Yescarta™ (axicabtagene ciloleucel)  was given the government nod for treating refractory or relapsed diffuse large B-cell lymphoma.

The scientist added, “Today’s approval marks another first in the field of gene therapy—both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss….The culmination of decades of research has resulted in three gene therapy approvals this year for patients with serious and rare diseases. I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses.” 

Next year, the government aims to start rolling out a series of what it calls disease-specific guidance documents on the development of specific gene therapy products. These will “lay out modern and more efficient parameters—including new clinical measures—for the evaluation and review of gene therapy for high-priority disease where the platform is being targeted,” the Dr. stated. “We’re at a turning point when it comes to this novel form of therapy, and the researchers are focused on establishing the right policy framework to capitalize on this scientific opening.” 

Biallelic RPE65 mutation-associated retinal dystrophy affects 1000 to 2000 patients in the a country, and is one of a group of retinal disorders that are caused by more than 220 different genes, which lead to progressive visual dysfunction and potentially blindness. In the case of biallelic RPE65 mutation-associated retinal dystrophy, affected individuals have inherited mutations in both copies of the RPE65 gene, which results in reduced levels or a complete lack the RPE65 protein in retinal cells. The disorder leads to progressive loss of vision, often during childhood or adolescence, and eventual blindness. 

Luxturna is designed to deliver a normal copy of the RPE65 gene to viable retinal cells of patients with confirmed disease using an AAV delivery vehicle. The gene therapy has been tested in two open-label Phase I studies and one open-label, controlled Phase III study, involving 41 participants aged four to 44 years at the time of treatment. The gene therapy is currently under review by the European Medicines Agency. 

Luxturna is delivered as a subretinal injection and will be administered by specially trained surgeons to patients with genetically confirmed disease at selected centers. Researcher anticipates that Luxturna will be made available during the first quarter of 2018. The firm will manufacture Luxturna at its facility, which is the first manufacturing facility licensed for a gene therapy to treat an inherited disease.

“During the more than 12 years of innovative research with dedicated collaborators near and far, I’ve witnessed the dramatic improvement in vision in many patients who would have otherwise lost their sight,” commented a Professor of Ophthalmology. “I believe that the success of the Luxturna clinical development program will pave the way for the development of other gene therapies that may help the millions of patients with genetic diseases who currently have limited or no treatment options.”

“This approval is a watershed milestone,” added the head of a nonprofit organization focused on research for preventing and treating blindness caused by inherited retinal diseases. “For people with an inherited retinal disease and for other patient communities, this decision may create important momentum for investigational gene therapies."

THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.   

PS- THOSE INTERESTED IN RECIPES ARE FREE TO VIEW MY BLOG-                      

HTTP:GSEASYRECIPES.BLOGSPOT.COM/
FOR INFO ABOUT KNEE REPLACEMENT, YOU CAN VIEW MY BLOG-                                                                       

HTTP://KNEE REPLACEMENT-STICK CLUB.BLOGSPOT.COM/
FOR CROCHET DESIGNS
HTTP://MY CROCHET CREATIONS.BLOGSPOT.COM