Gene Therapy Could Help Hemophiliacs

gene therapy

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

Fierce Biotech
The Wall Street Journal
American Society of Gene and Cell Therapy

3 Responses to "Gene Therapy Could Help Hemophiliacs"

  1. John   June 25, 2014 at 3:58 pm

    This article is hugely flawed. Firstly, gene therapy is VERY promising and within a decade or so will probably be readily available for Factor IX, with Factor VIII gene therapy coming soon after.

    Secondly, current treatments for Haemophilia have long since moved on from blood transfusions in developed countries. We have two kids with severe haemophilia and we home treat. Both are on prophylaxis. In poor, underdeveloped countries, blood transfusions are probably still common.

    I was going to share this article but it’s so inaccurate, I’ve decided not to.

    • John   June 25, 2014 at 4:01 pm

      Also, minor cuts do, not bleed for days, weeks, months and your explanation of how a woman ‘gets’ haemophilia makes no sense. In general, women are carriers of haemophilia and their sons are sufferers.

      • Eddie Mejia   June 25, 2014 at 8:42 pm

        Though, Factor Replacement Therapy (prophylaxis) is possible there are many factors that prevent them. That being said, I am very happy for your children, they are privileged, because:

        Prophylaxis is not universally accepted, with only about half the children with hemophilia A receiving this treatment modality in the United States. Reasons cited for the lack of acceptance include need for venous access, factor availability, repeated venipunctures, and cost, among others. Research questions that remain unanswered include when to initiate and stop infusions, dosing, and dose schedule.

        Source: Medscape –

        Infusions may not take hours at a time individually, but they could take hours a week which could undoubtedly be put to better use. And hemophilia affects people all over the world where transfusions are the only source of relief.

        Though, I still misspoke, it should have read that most people do not have access to any cure other than blood transfusions. Those with moderate to severe hemophilia can be prescribed inhibitors which are still not common, as maybe 30 percent of severe hemophiliacs are eligible. Desmopressin (DDAVP) is the most common cure, but it is unavailable for those with severe hemophilia.

        Sources: Medscape –
        Medscape –

        Also, if my explanation on how women get the disease was unsatisfactory, I’m sorry, here’s another:

        Females, on the other hand, are a little trickier. Girls who have a father with hemophilia will always be a carrier because they inherit his affected “X” chromosome. If the mother is a carrier, a girl has a 50% chance of also being a carrier, depending on whether she inherits the affected “X” or the regular “X” chromosome.

        Although highly unlikely, there is another scenario as well. If a woman’s father has hemophilia and her mother is a carrier (and she inherits the affected chromosome) she could actually have full-blown hemophilia.

        Source: –

        Everything about hemophilia is rare, especially rarities among the already rare
        disease. That being said severe hemophiliacs can indeed bleed for hours, days, weeks, or even months and years if gone untreated, even if a scab forms. Granted only about 100,000 people in the world classify for severe hemophilia (at least 170,000 people had hemophilia in 2012, 60 percent of those cases are considered severe), and even in them it is rare, but it is still not impossible.

        Sources: World Federation of Hemophilia – –

        Thank god, these problems do not affect you personally, but they are issues that must be heard to garner more support for your family and many others. Primarily for those who do not have a way to voice their concerns.

        Thanks for reading,


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