This in-depth story takes a look at the work of scientists who are trying to repair gene-deficient mice using “gene therapy.” These researchers hope to one day apply these still-experimental treatments to people who suffer from a variety of serious neurological conditions, but the focus in this story is mostly on a rare fatal condition known as Canavan disease.
The heart-rending narratives that dot this account make for vivid reading, and the story does an admirable job of reflecting the hope and enthusiasm of some of the scientists on the front lines of this work. It offers readable explanations of how these researchers are modifying gene delivery strategies to overcome tragic problems uncovered by earlier clinical studies that led to a wholesale halt in work with humans.
But the bottom line here is that nearly all of the promising research of the present has been conducted in mice, making the enthusiasm that permeates this story premature. Instead of deeply discussing the challenges in moving from animal data into medical interventions, the story spends more time on the growing financial interest among investors. The first quote in the story is from a venture capitalist, for example.
While it’s important to discuss the biotech buzz surrounding gene therapy research, it’s also important to provide clarity on how challenging it will be to turn the research into actual treatments, even when experiments are amply funded.
Genetic diseases of the brain are difficult to treat. If gene therapy offers an avenue for intervention, it would offer hope where there currently is little.
While some therapeutic strategies appear to have been approved in China and Europe, according to the story, none has been approved in the Unites States, suggesting that cost information isn’t yet relevant. But the story does indicate how expensive these therapies might be, by mentioning a breathtaking bit of pricing by one European company: $1.4 million per injection.
This is enough to rate as Satisfactory, though the story could have done more to help patients understand what pricing might look like for gene therapies, which is surely on the minds of the venture capitalists funding the research.
The story reports chiefly on what appear to be full recoveries in some mice engineered to have genetic deficiencies, but we’re given no details on the quantified results nor any words of caution on the limitations of extrapolating these benefits to humans. For the one human research trial that’s discussed (for a vision disorder unrelated to Canavan disease), we’re told 21 vision-impaired patients experienced “maximum possible benefit” of vision restoration, a description that sounds like good news, but falls short of quantifying the actual benefits.
This one is difficult to evaluate, since most of the current research relates only to animal studies. However, early in the story, the writer reflects on the well-publicized death of a clinical trial participant in 1999 that brought gene therapy trials to an abrupt halt in the United States. Other passages in the story also suggest caution, as does a source later in the story, who notes that risk accompanies many therapies. These details are sufficient to indicate there could be significant harms if these methods move into human testing, and that’s enough to rate as Satisfactory. However, it could have been made clearer that researchers really don’t know the harms yet.
The premise of this story is that gene therapy is re-emerging as a promising and investment-worthy treatment. But the bulk of this premise is staked upon two things: Early-stage animal research, and the growing interest of financial backers. It does not balance the enthusiastic statements from researchers and investors by discussing the actual quality of this evidence as it pertains to patients waiting for a cure, except for the ending anecdote where the mother of a terminally ill child can only muster a wordless smile at the news of a promising animal study. It was a poetic way to emotionally portray the hurdles of evidence-backed treatments actually arriving for this woman’s daughter, but we also wanted to see a more analytical discussion of the limitations of animal research to better balance the story.
The diseases discussed here are relentless and ultimately lethal.
The writer devotes a big chunk of the story to a discussion of investor excitement regarding gene therapy. So although we do not learn who is funding specific scientists or studies, we do learn the venture firms are providing many millions of dollars to support the development effort. The relationship between investors and scientists included as sources in this story is not clear. The story also would have benefitted from quoting researchers who are not part of the studies in question.
The story is explicit that at least some of the diseases mentioned have no alternative treatments.
However, we did want to note that only at the end does the story explain that this type of is not appropriate for all conditions of the brain, especially those that involve multiple genes.
We would have preferred to have that read that at the start of the story, to better balance the blanket statement in the headline (“GENE THERAPY MIGHT BE THE BEST, AND PERHAPS ONLY, CHANCE AT CURING BRAIN DISEASES.”)
We’re told early on “there is no treatment and no cure for Canavan disease,” but then later a researcher is quoted as saying: “We have the therapy. We are ready.”
The word “therapy” implies effective treatment of people. Therapeutic misconception like this is confusing to readers, and the story needed to counter this confusion by more strongly indicating this specific intervention is and will be experimental for years to come.
This was made more confusing by the discussions of available gene therapies for other illnesses, including two that are in use in China and Europe, and one that might be approved in the U.S. How far behind are all the gene therapy approaches discussed in the piece? This is important to counter false hope among patients who may read this story and think that these are signals that availability of these other therapies can’t be far away.
The story is clear that scientists have been trying to develop effective gene therapy strategies for years. It also makes a good case that the recent modifications in delivery mechanisms discussed here are indeed news.
This story seems independent of news releases and appears to stem from a good bit of reporting work by the journalist.