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Gene therapy is a medical technology that aims to produce a therapeutic effect through the manipulation of gene expression or through altering the biological properties of living cells.
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision. As peripheral vision worsens, people may experience "tunnel vision". Complete blindness is uncommon. Onset of symptoms is generally gradual and often begins in childhood.
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.
Virotherapy is a treatment using biotechnology to convert viruses into therapeutic agents by reprogramming viruses to treat diseases. There are three main branches of virotherapy: anti-cancer oncolytic viruses, viral vectors for gene therapy and viral immunotherapy. These branches use three different types of treatment methods: gene overexpression, gene knockout, and suicide gene delivery. Gene overexpression adds genetic sequences that compensate for low to zero levels of needed gene expression. Gene knockout uses RNA methods to silence or reduce expression of disease-causing genes. Suicide gene delivery introduces genetic sequences that induce an apoptotic response in cells, usually to kill cancerous growths. In a slightly different context, virotherapy can also refer more broadly to the use of viruses to treat certain medical conditions by killing pathogens.
Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life.
Lux Aeterna may refer to:
Choroideremia is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual's life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
The visual cycle is a process in the retina that replenishes the molecule retinal for its use in vision. Retinal is the chromophore of most visual opsins, meaning it captures the photons to begin the phototransduction cascade. When the photon is absorbed, the 11-cis retinal photoisomerizes into all-trans retinal as it is ejected from the opsin protein. Each molecule of retinal must travel from the photoreceptor cell to the RPE and back in order to be refreshed and combined with another opsin. This closed enzymatic pathway of 11-cis retinal is sometimes called Wald's visual cycle after George Wald (1906–1997), who received the Nobel Prize in 1967 for his work towards its discovery.
Retinal pigment epithelium-specific 65 kDa protein is a retinoid isomerohydrolase enzyme of the vertebrate visual cycle. RPE65 is expressed in the retinal pigment epithelium and is responsible for the conversion of all-trans-retinyl esters to 11-cis-retinol during phototransduction. 11-cis-retinol is then used in visual pigment regeneration in photoreceptor cells. RPE65 belongs to the carotenoid oxygenase family of enzymes.
Aryl-hydrocarbon-interacting protein-like 1 is a protein that in humans is encoded by the AIPL1 gene.
The mission of the Foundation Fighting Blindness is to fund research that will lead to the prevention, treatment and cures for the entire spectrum of retinal degenerative diseases, including retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease and related conditions. These diseases, which affect more than 10 million Americans and millions more throughout the world, often lead to severe vision loss or complete blindness.
Gene therapy using lentiviral vectors was being explored in early stage trials as of 2009.
Retinal gene therapy holds a promise in treating different forms of non-inherited and inherited blindness.
Editas Medicine, Inc.,, is a clinical-stage biotechnology company which is developing therapies for rare diseases based on CRISPR gene editing technology. Editas headquarters is located in Cambridge, Massachusetts and has facilities in Boulder, Colorado.
Katherine A. High is an American doctor-scientist who is an emeritus professor at the Perelman School of Medicine at the University of Pennsylvania. She was the co-founder, president, and chief scientific officer of Spark Therapeutics and currently serves as President of Therapeutics at AskBio. Her career has focused on pioneering work in the area of gene therapy, with many accomplishments in basic, translational, and clinical investigation in gene therapy.
Spark Therapeutics, Inc. is a developer of gene therapy treatments, which treat debilitating genetic diseases. It is a subsidiary of Hoffmann-La Roche.
Congenital blindness refers to blindness present at birth. Congenital blindness is sometimes used interchangeably with "Childhood Blindness." However, current literature has various definitions of both terms. Childhood blindness encompasses multiple diseases and conditions present in ages up to 16 years old, which can result in permanent blindness or severe visual impairment over time. Congenital blindness is a hereditary disease and can be treated by gene therapy. Visual loss in children or infants can occur either at the prenatal stage or postnatal stage. There are multiple possible causes of congenital blindness. In general, 60% of congenital blindness cases are contributed from prenatal stage and 40% are contributed from inherited disease. However, most of the congenital blindness cases show that it can be avoidable or preventable with early treatment.
Jean Bennett is the F. M. Kirby Professor of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania. Her research focuses on gene therapy for retinal diseases. Her laboratory developed the first FDA approved gene therapy for use in humans, which treats a rare form of blindness. She was elected a member of the National Academy of Sciences in 2022.
Ultragenyx Pharmaceutical Inc. is an American biopharmaceutical company involved in the research and development of novel products for treatment of rare and ultra-rare genetic diseases for which there are typically no approved treatments and high unmet medical need. The company works with multiple drug modalities including biologics, small molecule, gene therapies, and ASO and mRNAs in the disease categories of bone, endocrine, metabolic, muscle and CNS diseases.
References
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- ↑ "Luxturna Product information". Health Canada. 25 April 2012. Retrieved 21 October 2020.
- ↑ "Summary Basis of Decision (SBD) for Luxturna". Health Canada. 23 October 2014. Retrieved 29 May 2022.
- 1 2 "Luxturna- voretigene neparvovec-rzyl kit". DailyMed. 4 December 2019. Retrieved 14 August 2020.
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- 1 2 "Luxturna EPAR". European Medicines Agency (EMA). 24 September 2018. Retrieved 21 October 2020.
- 1 2 "Press Release - Investors & Media - Spark Therapeutics". Ir.sparktx.com. Retrieved 9 October 2017.[ permanent dead link ]
- ↑ McGinley L (19 December 2017). "FDA approves first gene therapy for an inherited disease". Washington Post.
- 1 2 "FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss". U.S. Food and Drug Administration (FDA). 24 March 2020. Retrieved 28 November 2022.
- ↑ "Luxturna". Therapeutic Goods Administration (TGA). 13 August 2020. Retrieved 22 September 2020.
- ↑ "'I never saw stars before': Gene therapy brings back 8-year-old Canadian boy's sight". CTVNews. 14 October 2020. Retrieved 21 October 2020.
- 1 2 "First Gene Therapy For Inherited Disease Gets FDA Approval". NPR. 19 December 2017.
- ↑ Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, et al. (August 2017). "Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial". Lancet. 390 (10097): 849–860. doi:10.1016/S0140-6736(17)31868-8. PMC 5726391 . PMID 28712537.
{{cite journal}}: CS1 maint: overridden setting (link) - ↑ "Spark's gene therapy for blindness is racing to a historic date with the FDA". Statnews.com. 9 October 2017. Retrieved 9 October 2017.
- ↑ Clarke T. "Gene Therapy for Blindness Appears Initially Effective, Says U.S. FDA". Scientific American. Retrieved 12 October 2017.
- ↑ "FDA approves Spark's gene therapy for rare blindness pioneered at CHOP". Philly. Retrieved 24 March 2018.
- ↑ "Voretigene neparvovec - Spark Therapeutics - AdisInsight". adisinsight.springer.com.
- ↑ Lewis R (13 October 2017). "FDA Panel Backs Gene Therapy for Inherited Blindness". Medscape.
- ↑ Lee H, Lotery A (August 2017). "Gene therapy for RPE65-mediated inherited retinal dystrophy completes phase 3". Lancet. 390 (10097): 823–824. doi:10.1016/S0140-6736(17)31622-7. PMID 28712536. S2CID 26983863.
- ↑ "Landmark Therapy to Treat Blindness Gets One Step Closer to FDA Approval". Bloomberg.com. 12 October 2017. Retrieved 12 October 2017.
- ↑ "Spark grabs FDA nod for Luxturna, a breakthrough gene therapy likely bearing a pioneering price". FiercePharma. 19 December 2017.
- ↑ "The anxious launch of Luxturna, a gene therapy with a record sticker price". STAT. 21 March 2018. Retrieved 24 March 2018.
- ↑ Tirrell M (3 January 2018). "A US drugmaker offers to cure rare blindness for $850,000". CNBC. Retrieved 3 January 2018.
