This is an originally reported, people-driven story about children with a rare and deadly genetic disease known as metachromatic leukodystrophy undergoing an experimental gene therapy as part of a clinical trial in Italy. The preliminary results of the trial are very intriguing, and the two siblings in the story are currently disease free.
The focus on one family, however, uses a single experience to suggest that the experimental therapy is effective, when in fact the small trial has yet to be fully analyzed, published and peer reviewed.
Readers are given very little information about the trial itself, the stage of the research, or the strength of the evidence. No independent experts are featured to put the preliminary results into a wider context, and no information is given about the potential costs of the treatment, which are likely to be enormous.
Although individually rare, single gene disorders collectively take a heavy toll. The WHO prevalence at birth to be 1/100. Any new method to develop treatments for single gene diseases could have a major impact, so gene therapies currently in trials are being watched closely. Nonetheless, novel treatments can take a long time to prove safe and effective, so readers should not have their expectations raised that “miracle” cures are just around the corner–when in reality there is still a long way to go before gene therapies make it into mainstream medicine. Unfortunately, this story puts too much emphasis on the promise of an experimental therapy without suggesting there may be pitfalls to it becoming available.
Gene therapies are astronomically expensive; Glybera, the only approved gene therapy in the world, costs around $1 million and has only been used once.
Nowhere is the potential cost of the treatment mentioned by the reporter, despite interviewing a woman financially supporting families to get their children into the clinical trial.
Although it is impossible to say how much the experimental treatment would cost if approved, the likelihood of an extremely high price tag should have been mentioned.
The story does not clearly state the quantified benefits seen in the experimental trial, though it does make reference to the research. All we’re told is “At least 70-80% of them have an outstanding benefit coming from the treatment.” But, what does “outstanding” mean? And how many kids are we talking about? It sounds like possibly 24, but we’re not sure. And, what’s happening to the other third who aren’t seeing “outstanding” benefits?
The reporter does say that “it will take years to know for sure” if the treatment works, but ends the story on the word “miracle” and leans heavily on the anecdotal experience of a single family, which diminishes the previous cautious statements.
The mention of gene therapy’s difficult past, including deaths in clinical trials, is valuable context for the reader to understand the potential risks of experimental treatments, so we’re glad the story mentioned that.
However, there should have been some discussion of the potential harms of this new treatment. (If there are none, which is unlikely, that is also important and valuable information to the reader.)
At no stage does the story say that the results of the trial have not been fully published, despite strongly suggesting that the experimental gene therapy is effective. This is a major problem, particularly when combined with extensive anecdotal experience suggesting the therapy works.
At the very least, the small size of the experiment and early stage of the research should have been given. Any reader would be at a loss to know where to look for further information, or to grasp how far along the researchers are toward demonstrating whether their therapy is truly effective.
MLD is referred to as a “rare, nightmare disease.” We feel this is not disease mongering considering that MLD is currently untreatable and usually kills children before they reach five years old.
There are no independent sources quoted. While the story is focused on individuals and families living with the disease, it would not have been difficult to include a single third-party voice. No doubt many other researchers are watching the clinical trial with interest, and they may have provided valuable context as well as an indication of the quality of the evidence.
The trial is funded by GlaxoSmithKline who own the experimental therapy. Again, a quick mention would have been valuable.
The story does not discuss if there are alternatives under development.
It is made very clear that the treatment is not available in the U.S., and likely won’t be for some time.
While this deserves a Satisfactory rating, there are two ways in which the reporter might have dealt with the availability issue differently. First, it might have been worth saying the treatment may never be available in the U.S., since the research is at too early a stage to guarantee success. Second, it would have been informative to find out from the drug company what they think will happen next. GlaxoSmithKline are to have said they will seek approval in 2017–is that based on this current study or are they planning to do more research?
The story establishes that this experimental gene therapy is novel.
The story does not appear to be based on any particular publication or event, so the reporting is original and does not rely on a news release.