Gene therapy is an emerging treatment that is experimental at best. Currently, it is not open for testing on common diseases – only diseases that have no known cures. Some acquired diseases, such as Parkinson’s disease, Huntington’s disease and many variations of cancer have shown promise for being treated. However, congenital diseases like CGD (Chronic Granulomas Disorder), Hemophilia and Severe Combined Immune Deficiency (ADA-SCID or bubble boy syndrome) have shown even more potential in recent tests. Hemophiliacs now have the most positive prognosis from gene therapy and could soon be helped by Bayer, in collaboration with gene therapy company Dimension Therapeutics.
Hemophilia is a rare blood disease that does not allow the blood of those infected to clot properly. Even the most minor of cuts could lead to hours, if not days or weeks, of continuous bleeding. Even though a scab may form, the blood will continue to flow, creating huge amounts of bruising and/or swelling. Joints are also affected, and could swell to four times their normal size. This genetic disease more commonly presents itself in men rather than women, because it is caused by a recessive mutation of the x chromosome. In order for women to have hemophilia, their father must be a hemophiliac and their mother must pass on the recessive trait. That being said, women are predominantly asymptomatic carriers.
As mentioned before, hemophilia is untreatable thus far, and the only available treatment is reactive, invasive and temporary, coming in the form of periodic blood transfusions designed to replace the plasma a hemophiliac’s body is lacking. However, type A hemophiliacs could have a new option. If Dimension Therapeutics is successful in creating a viable gene therapy, they could be saved the hours of time each transfusion requires, not to mention the expense and the pain involved.
Dimension Therapeutics was created in 2013 by CEO Tom Beck and a partner of his at Fidelity Biosciences named Ben Auspitz, who is now chairman at Dimension. Fidelity is predominantly an investment company, but their bioscience branch has funded many major breakthroughs in recent drug developments. Beck said that before creating Dimension, he tracked down every gene therapy “company in existence” to gather as much information as possible on the subject. Dimension is modeling themselves to a certain degree after Ultragenyx, whose CEO Emil Kakkis is also acting as an advisor to the company. Ultragenyx has had an ambitious marketing strategy – first putting together a plan to tackle various rare diseases, then succeeding in an IPO (Initial Public Offering) to gather funds for the company. Auspitz says that he could see a similar path for Dimension.
The most pivotal advancement has come from joining with a branch of the University of Pennsylvania called ReGenX. ReGenX’s James Wilson has been making great strides in AAV (Adeno-Associated Virus) gene therapy technology. Gene therapy works by finding the mutated or otherwise affected gene and replacing, removing or fixing it. AAV technology works by attaching the treatment to a man made virus and sending it to the affected genes.
Bayer is paying over a quarter of a billion dollars to support Dimension Therapeutics’ goal of eliminating hemophilia. Twenty million dollars is to be paid upfront with the other $232 million going to development and commercialization. Dimension will be conducting all of the pre-clinical tests and phase I/IIa clinical trials before passing the ball back to Bayer, who will be finishing up the phase III trials. If all goes well, a virus created by a gene therapy company could be instrumental in helping the lives of countless hemophiliacs.
By Eddie Mejia