Leber’s congential amaurosis is a rare, inherited condition that causes impaired vision from birth that progressively worsens throughout childhood resulting in blindness in adulthood, between 20 to 30 years of age. Currently there is no cure or effective treatment. Two small, preliminary investigations of a novel genetic experiment have shown short-term safety and modest efficacy in improving some, but not all, measures of visual function. While promising, there was variability in the experimental subjects’ reponse to this technique. Normal vision was not restored for any of the patients involved in the study. Due to the serious consequences of this disease, there is the potential these preliminary findings will be overstated or overinterpreted in the news media and by the general public. Overall, this article highlights the key points of the new research but does tend to present an overly optimistic view of the preliminary findings. After all, this was a story about experiments in six people, yet the headline talked about "hope for a cure."
Costs are not discussed but it is understandable that they might not be known after an experiment on only 6 people.
The article doesn’t report much in the way of quantitative data and results. The article could have included additional detail about the specific results. The findings that are presented are somewhat overstated and not entirely accurate. The article states that the "results showed a modest improvement in vision" when the improvement in vision was based on self-report for the three patients in the U.S. study and but was only found by objective measure in one patient in the British study. While the results of both studies suggest efficacy in improving the pupil’s ability to respond to light, improved visual function and mobility was only found for one patient in the British study. Further, the patient in the British study who experienced the best results had the least advanced retinal disease compared to the other patients. Other improvements including a reduction in nystagus or roaming eye movements in all patients in the U.S. study (not measured in the British study).
Nitpicking details? We don’t think so in a story headlined "hope for a cure."
The article states that none of the patients experienced serious side effects or adverse events. It could have emphasized that one can’t draw much of a conclusion on safety after experiments in a few people.
The article does not explicitly state that both studies were small, uncontrolled trials examining the safety and preliminary efficacy of a gene therapy technique that has shown success in animal models. The above limitations of this type of investigation and others related to study design, such as the potential for a placebo effect from self-reported measures of visual acuity and the unreliability of measurements of visual acuity at the very low levels observed in these patients, were discussed in both studies and in the accompanying editorial. However, these limitations were not mentioned in this article. In addition, the article’s wording describing the sample size of the studies is ambiguous. "Two groups…who experimented on six blind patients" could be interpreted that both studies examined six patients as opposed to the actual sample of three patients per study.
This article accurately characterizes Leger’s congential amaurosis as an inherited disease that results in severe visual impairment in childhood and total blindness by the third or fourth decade of life. While the disease is rare, there is no cure.
While this article accurately states that its sources were two articles published in the New England Journal of Medicine, funding sources were not reported in this article. The journal did report that funding for the research was primarily in the form of national, federal and foundation grants. One co-author on the British study and four authors of the U.S. study reported financial and/or consulting relationships with pharmacuetical companies. In addition, no opinion from an expert not involved in the trial was provided.
This article presents a truly novel technique and potential treatment. There are no treatments options currently available for this condition.
This article clearly indicates that the two studies studies are preliminary and that this treatment is in the experimental stages. It is implicit that the treatment is not clinically available but available only to patients participating in clinical trials.
This article describes the first reports of trials examining the potential gene therapy for Leber’s congenetial amaurosis.
We can’t be sure if the story relied solely or largely on a news release. We can be sure that it quoted only the doctor who led the US study.