In 2012 the first gene therapy, Glybera, was granted marketing authorisation from the European Medicines Agency as a treatment for adult patients diagnosed with familial lipoprotein lipase deficiency (LPLD). Since then, a great deal of funding has been poured into research. “There is an amazing amount of work in our field of gene therapy at the moment,” explains Samantha Parker, Head of, biotechnology company, Lysogene’s Patient and Policy Affairs. “The technology has the potential to transform the treatment of the central nervous system, by providing a one-time treatment that dramatically improves patients’ lives”.

85% of rare diseases are monogenic, which means they are caused by a single gene defect. Gene therapy offers a very targeted approach to fighting such diseases, by providing correct versions of the mutated gene.


The most common way of delivering this genetic material is by engineering a virus that can be injected directly into a patient. The viruses’ own genes are removed and replaced with the gene that needs to be inserted into the body. The engineered virus is harmless because its own genes have been removed and becomes known as a gene therapy vector.

There is considerable collaboration between the world’s leading laboratories, clinicians, scientists and patient groups to conduct trials and contribute to international research in the field of gene therapy. Over the past year a phase I/II clinical study in four children diagnosed with the neurodegenerative disease, Mucopolysaccharidosis Type IIIA (MPS IIIA), was successfully completed.


A team are about to progress to the next phase by enrolling about 20 patients with MPS IIIA to further investigate the efficacy, safety and tolerability of the therapy. In 2017 plans are underway to embark on the phase I/II clinical trial of gene therapy for another neurodegenerative disease, GM1 gangliosidosis.

Whilst research continues into conventional gene therapy, more recently a technology is known as CRISPR-Cas9 or CRISP is been developed. CRISP involves a chemical messenger know as RNA that is designed to target a section of DNA, and an enzyme, called a nuclease, that can remove faulty genes and paste new ones in.

In theory, scientists can make RNAs that target any sequence of DNA they want to replace a faulty gene, meaning CRISP could be used as a more effective form of gene therapy and also to target cells that are currently not viable for conventional gene therapy. In addition it has the added benefit of being able to manipulate multiple genes at the same time. With current tests being carried out on animals, it is likely to be a years before CRISP becomes widely used, but the technology is raising exciting possibilities for patients with, currently, incurable diseases. 

Whilst science is making great progress, Ms Parker is adamant that the global community is “united to ensure that quality of care is absolutely paramount. Taking into account, first and foremost the care of the patient.”

Learn more

Lysogene is a clinical stage biotechnology company; a pioneer in the basic research and clinical development of gene therapy with CNS involvement. Lysogene is committed to the development and commercialization of innovative therapies for patients affected with rare disorders and high unmet medical needs. LYSOGENE’s team translated its rAAVrh10 lead product for Mucopolysaccharidosis IIIA (also known as Sanfilippo syndrome type A) from bench to bedside in less than five years.

Lysogene’s outstanding translational and clinical expertise in gene therapy for CNS disorders makes it an ideal platform for collaborative partnerships.  We currently have research agreements in place with some of the world’s most renowned universities as well as private entities.

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