When my one-month-old daughter was diagnosed with biliary atresia — a rare disease that for most of human history was 100% fatal — I entered a world where hope and terror coexist.

Thanks to pioneers who pushed the envelope when everyone else had given up, at thirteen months old she underwent a liver transplant in Pittsburgh, and today she is alive and thriving in college.

So I understand intimately why families facing devastating illnesses want access to innovative therapies. But innovation only works if the science ecosystem can differentiate true innovation from failure.

A recent Wall Street Journalcolumnargues that the U.S. Food and Drug Administration is standing in the way of hope for rare disease patients. It frames the debate as a simple moral choice: let patients try promising therapies or deny them a chance at survival.

That framing is dangerously incomplete.

Most reasonable people agree that rare disease patients should have the right to try innovative therapies, provided the data are strong and the risks understood. But today, that right can be hijacked by investors with a financial stake in characterizing treatments as safe and effective on the basis of partial data. When investors sell false hope, patients lose the impartial referee they need.

Consider the gene therapyAMT-130, currently under development to treat the rare, neurodegenerative Huntington’s disease. Much-cited early data released by the sponsoring company suggests this treatment may slow Huntington’s progression by75%. That claim has understandably sparked excitement, but the claim has serious problems.

The 75% improvement is based on a comparison to the progression of disease in external matched controls — patients pulled from a natural history database who never set foot in the trial. Such comparisons rest on the always shaky assumption that matched controls actually were similar to the active therapy group.

But the company’s own randomized sham trial gives us a way to check that assumption, and the check fails — the historical control group’s progression of disease looks nothing like the sham arm over the first year. The headline 75% number is built on a comparator the company’s own data contradicts. At best, these are hypothesis-generating findings that need to be confirmed in better trials, not data that should form the basis for an FDA approval, which ordinarily signals a strong likelihood of efficacy.

The Journal column correctly points out that a traditional placebo-controlled design would require sham brain surgery, where control patients undergo a procedure without receiving the therapy. The column frames this as unethical, but that framing is incomplete.

Source: VidNews » Feed