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Release on potential therapy for rare bleeding disorder gets points for restraint

Gene therapy for rare bleeding disorder achieves proof-of-concept

Our Review Summary

Credit: UC Davis Comparative Oncology Program

This short news release describes a gene therapy experiment in four dogs that might turn out to help human patients with a rare blood disorder known as Factor VII deficiency. The release does a good job of making clear that this is just a proof-of-concept and needs human trials. Great specific language is used to make that clear. But it does not give any context for the problems of developing gene therapies for rare diseases. Companies may balk at developing a treatment than can’t be sold very widely, which contributes to high costs.


Why This Matters

Gene therapies are emotional minefields for patients and families, especially since so much has been promised and actual successes have been few. One gene therapy offered in Europe has a price tag of $1 million. This release would serve readers better if it gave some of that daunting context. A Washington Post story explains some of the challenges: “No [gene] therapy is approved yet in the United States, so discussions about price — as well as crucial questions about how much patients will pay directly — are hypothetical. But industry leaders are already talking about ways to get ahead of potentially massive one-time price tags that could make insurers and patients balk.”


Does the news release adequately discuss the costs of the intervention?

Not Applicable

The news release does not bring up costs, but we’ll rate this Not Applicable since the release is clear that this is early-stage work that is not yet ready for use in humans. Some mention of costs would have been valuable nonetheless. Gene therapy is known to be extremely costly, and when a disease is rare, as this is, that raises questions about what company would find it profitable to pursue the potential treatment. The University of Utah provides some excellent background on the “commercial viability” of gene therapy.

Does the news release adequately quantify the benefits of the treatment/test/product/procedure?


The release squeaks by on this. There are no numbers used to quantify, but this excerpt at least touches on the method of measurement and the three-year follow up. “The treated dogs had expressed levels of clotting factor VII that would be therapeutic in humans, with long-term stability. In one dog, the effects persisted nearly three years.”  The release could have explained what a “therapeutic” expression level of clotting factor actually means. A closer look at the paper reveals that a clinically therapeutic level is greater than or equal to 15% of normal.

Does the news release adequately explain/quantify the harms of the intervention?


The release addresses harms in a couple of places, as in this excerpt:

“The FVII-deficient dogs tolerated the initial gene therapy infusions very well and have had no adverse side effects over several years of follow up.”

and in a quote by the lead researcher:

“Based on kidney function, liver function, and blood measurements in the dogs, the treatment was safe, and did not elicit unwanted immune responses.”

But as this study was done in canines, we would have liked a bit more detail on how harms might  manifest in human clinical trials.

Does the news release seem to grasp the quality of the evidence?


The limited information given in the news release describes the quality of the evidence, particularly the fact that this was an animal study that is not directly applicable to humans. The release notes that the study “sets the stage for clinical trials in humans.” The release could have noted that a study with only four (canine) participants is very small.

Does the news release commit disease-mongering?


There is no disease mongering.

Does the news release identify funding sources & disclose conflicts of interest?


There were no conflicts identified. All the funding sources were listed.

Does the news release compare the new approach with existing alternatives?


The release tells us that this rare clotting disorder is currently treated by infusions of clotting factors. The release could have done a better job of explaining how difficult that therapy is for patients. Is the disorder regulated well by that method? We aren’t given any information or what those costs are vs. what a one-time gene therapy might cost.

Does the news release establish the availability of the treatment/test/product/procedure?


The release makes clear that this treatment will not be available until human clinical trials are conducted.

Does the news release establish the true novelty of the approach?


This gene therapy is novel for this particular condition. The news release should also be commended for pointing out that a similar gene therapy approach has been tested by the same researchers for hemophilia. It’s admirable that they are not overselling the novelty of this approach by referencing their own previous work in related areas.

Does the news release include unjustifiable, sensational language, including in the quotes of researchers?


We were pleased to see proof-of-concept in the headline, because this is a very useful way to immediately alert readers that an idea has been validated, but not a therapy for human patients.

Total Score: 9 of 9 Satisfactory


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