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Gene Therapy And Rare Diseases: In The News #1

May 11, 2015



This is the 1st in a series of Blog Posts on the topic of recent news developments in gene therapy and rare diseases.

The following gene therapies will be reviewed in this Blog Post:

•   GlaxoSmithKline (GSK) and Adenosine Deaminase Severe Combined Immunodeficiency Syndrome (ADA-SCID)

•   Applied Genetics Technologies Corporation (AGTC) and Achromatopsia.


Last week on May 5th, GSK , Fondazione Telethon, and Ospedale San Raffaele (OSR) announce the submission of a marketing application to the European Medicines Agency (EMA) for a gene therapy (GSK2696273) for the treatment of ADA-SCID, when there is no suitable human leukocyte antigen (HLA)-matched related stem cell donor. The gene therapy receives FDA Orphan Drug Designation (ODD) in August 2009.

GSK2696273 is an autologous ex vivo stem cell gene therapy. Treatment with autologous cell gene therapy means that the cell donor and recipient is the same person. The HSCs (Haematopoietic Stem Cells) of the patient … are harvested from the bone marrow in a hospital setting and then taken to a cell processing facility where they undergo a tightly controlled manufacturing process … a retrovirus … is used to enter cells and insert the corrected gene. This step is known as transduction. The gene-corrected cells are then re-introduced to the patient via an intravenous infusion.  This procedure takes about 1 week.

ADA-SCID is an ultra-rare genetic disease, where patients cannot make lymphocytes (white blood cell type), resulting in a severely deficient immune system. Per the GSK Press Release, about 14 children are born each year in Europe with the disease. ADA-SCID is the result of the inheritance of a faulty gene from both parents. It is caused by a gene mutation that encodes a protein called Adenosine Deaminase (ADA), which is important for lymphocyte formation and a working immune system.  Children with ADA-SCID don’t have the ability to fight infections and rarely survive beyond 1-2 years of age.

In October 2010, GSK, Fondazione Telethon, and OSR form an alliance to develop new treatments for rare genetic disorders “using gene therapy carried out on stem cells taken from the patient’s bone marrow (ex vivo)”. Besides gene therapy for ADA-SCID, the alliance is also developing ex vivo stem cell therapies for:

•   Metachromatic Leukodystrophy (MLD)

•   Wiskott-Aldrich Syndrome (WAS; FDA ODD in April 2010).

II – Achromatopsia

AGTC announces at the beginning of May, that new preclinical data is presented at the Association for Research in Vision and Ophthalmology’s (ARVO) 2015 Annual Meeting. The preclinical data evaluates the efficacy of a gene therapy treatment for the rare disease Achromatopsia (ACHM) in dogs. ACHM is a rare inherited retinal disease that is an inherited condition that results in visual acuity loss, light sensitivity, and loss of color discrimination. Please reference ARVO Abstract #2066 on page 3.

AGTC, a Florida-based clinical stage biotechnology company, uses gene therapy to replace the damaged gene with a normal functional gene, resulting in the patient producing proteins to treat their illness. The company uses the Adeno-Associated Virus (AAV) technology that delivers “good healthy” copies of the gene, replacing defective copies. AGTC is also developing gene therapies for two additional rare inherited eye diseases:

•   X-Linked Retinoschisis (XLRS)

•   X-Linked Retinitis Pigmentosa (XLRP).

AGTC receives FDA ODD for its gene therapy for ACHM in February 2011 and for XLRS in May 2007.

Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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