Study Finds Positive Preclinical Outcomes for Fragile X Syndrome Gene Therapy

Lysogene has just announced a new study has been published in the journal EMBO Molecular Medicine which demonstrates that DGKk is able to produce long-term rescue of fragile X syndrome (FXS). This study used a mouse model to demonstrate the affects of this adeno-associated virus vector delivered treatment.


Lysogene is a gene therapy platform which targets rare diseases affecting the central nervous system (CNS). In addition to work in fragile X, they are also currently conducting clinical trials in MPSIIIA and GM1 gangliosidosis.


FXS is a rare and genetic disease that results from a FMR1 gene mutation. This gene is responsible for the production of a fragile X mental retardation protein, or FMRP. However, when this gene encounters a mutation, the production of FMRP is disrupted. The gene is essential for the development of synapses, or the connections in-between the nerve cells which are responsible for relaying nerve signals throughout the body.

Disrupted FMRP production leads to fragile X symptoms such as behavioral difficulties and cognitive issues, all due to the nervous system being disrupted.

The Study

The basis of this newly published article was a study conducted by Dr. Hervé Moine and his lab in France, in collaboration with Lysogene. The team discovered that DGKk, which is a primary mRNA target of the FMRP gene, is down regulated when FMRP is absent. This finding was demonstrated through a Fmr1-KO mouse model.

The preclinical results demonstrate that AAV delivery of a type of DGKk that has been modified can correct cerebral diacylglycerol/phosphatidic acid homeostasis. Further, it can correct behavioral presentations of fragile X in the mouse model.

In other words, DGKk is a critical factor in the pathogenesis of FXS and by replacing the DGKk with a healthy version, FXS symptoms may be improved. The next step is to conduct additional preclinical studies on this possibility.

You can read more about this study here.

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