Gene therapy: a brief overview of the concept and approved drugs

At the end of February, it became known that the pharmaceutical company “Biotek” will become a supplier of the drug for the treatment of spinal muscular atrophy (SMA) nusinersen (TN Spinraza from Biogen and Janssen) for the sum of 128.8 million rubles for the charitable foundation “Circle of Good”. In addition to nusinersen, risdiplam (Eurisdi from Roche) and not yet registered in Russia onasemnogen abeparvovek (Zolgensma from Novartis) are used for the treatment of CMA.  All the above drugs belong to the so-called “gene therapy” – a field of modern medicine aimed at correcting defects in the structure of DNA and changing several cell functions in the body.

In most cases, gene therapy implies the use of two main components:

  • Gene/DNA or RNA fragment that will provide a therapeutic effect.
  • Vector which is a special carrier that can transfer genetic material to target cells.

Sometimes the patient’s cells are isolated from his body to correct defective genetic material in them and then return to the patient (ex vivo therapy), sometimes therapeutic genetic material is a ready-made dosage form for administration by the patient (therapy in vivo).

Gene therapy of somatic (non-sex) cells became a realityafter1980’s, when methods for obtaining isolated genes were developed, various types of vector systems were created, methods of gene transfer in animals have been worked out.

Gene therapy initially implied the treatment of hereditary genetic diseases, but as technology developed and experimental and clinical experience was collected, the scope of its application greatly expanded. Gene therapy is now seen as a potentially universal approach to treatment of a wide range of diseases that include hereditary and genetically induced acquired diseases.

Currently, gene therapy drugs are used to treat such diseases as the aforementioned CMA, cystic fibrosis, lipoprotein lipase deficiency, malignant neoplasms and others.

Among the already registered drugs of gene therapy in the world, we can note the following:

The drug Manufacturer Active component Disorder Approval Status
Spinraza Biogen and Janssen Nusinersen (genetic material without vector) SMA RF


EVRISDI® Roche Risdiplam (genetic material without vector) SMA RF


LUXTURNA Spark Therapeutics, Inc. Genetic material in the composition of a viral particle (vector) Treatment of hereditary form of vision loss associated with confirmed congenital retinal lesion mediated by biallele mutations of the RPE65 gene. US, EU
Neovasculgen Federal State Budgetary Institution “NMC of Hematology” of the Ministry of Health of the Russian Federation Genetic material without vector treatment of lower limb ischemia of atherosclerotic genesis LP-000671