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Medical Focus

New accomplishment in gene therapies


A clinical trial for a gene therapy to treat a severe immunodeficiency has provided highly promising initial results. Of nine patients treated and monitored over one to three years in the United Kingdom and the United States, seven had no infections and six were freed from treatments for disease complications.
Reference in Nature Medicine >
Laboratory technician Laboratory technician

Two of Genopole’s key actors in innovative biotherapies, the laboratory Genethon and the gene therapy production facility Yposkesi, contributed to this success.

X-linked chronic granulomatous disease is a rare and severe immune disorder affecting only males and usually in childhood. The gene therapy* developed at Genethon by Dr. Anne Galy is the first to offer durable treatment for the disease. Genethon developed the delivery vector for the therapy and piloted the initial European trials launched in 2013. The results from Europe and the United States were published in the 28 January 2020 edition of Nature Medicine.

The gene therapy is designed to restore the activity of a faulty enzyme, NAPDH oxidase, by inserting a functional gene for that enzyme in the patient’s immune cells. To deliver the genes to those cells, the therapy uses a lentiviral vector that has already demonstrated its efficacy and safety in other immunodeficiencies.

The clinical vector lots were produced by Yposkesi, France’s first nonprofit pharmaceutical establishment created by AFM-Téléthon and Bpifrance.

Today, gene therapy research is bringing a first wave of successful treatments not only for previously incurable rare genetic diseases, including immunodeficiencies, blood diseases, vision disorders and recently a myopathy, but also for several frequent pathologies, like leukemia.

  • A REFRESHER ON GENE THERAPIES

    Gene therapies treat diseases by inserting functional genes in cells to correct for the missing or dysfunctional genes in the genome. The introduced gene is the active pharmaceutical ingredient of the therapy. The “gene drug” is delivered to the target tissue and ultimately the cell itself by a transport mechanism called a vector.

    Currently, the most effective vectors are viruses that have had their genomes altered so that they are no longer able to replicate or cause disease. A virus’ natural behavior is to invade the cell and insert its genetic material within. The cell then expresses the virus’ genes as if it were its own. That property is turned to good use with viral vectors in gene therapy.

  • REFERENCE

    Lentiviral gene therapy for X-linked chronic granulomatous disease. Nature Medicine, 2020.
    doi.org/10.1038/s41591-019-0735-5

Article posted on 28 January 2020

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