Not much is known about why it strikes people, or even what causes it. Only 5% to 10% of patients inherit the disorder. But in recent years, given the advances in studying genomics, most of the money raised for ALS research has focused on identifying the genes responsible for triggering ALS in this subgroup.
But even here, progress has been slow. The last major scientific advance—identification of a common genetic abnormality in familial ALS—came in 2011, according to the ALS Association website.
The Food and Drug Administration has approved just one drug for treating ALS symptoms—in 1995. And that merely postpones the nervous system's deterioration for a few months.
Will the outpouring of concern and money through the Ice Bucket Challenge change the trajectory of ALS research? Because of its high profile, ALS has never been a research orphan. The ALS Association even before the current surge had raised $99 million for research. Yet, as one close observer of the field told me last week, “They're not a lot further along than five to seven years ago. They're still grasping.”
In that, the ALS Association isn't alone. There are more than 7,400 rare diseases listed in the databases maintained by the National Institutes of Health and the National Organization of Rare Disorders. Yet NORD has identified only 214 that have not-for-profit patient advocacy groups raising money for research. The FDA has approved only 350 therapies for those 7,400 conditions, many of which are more widespread and equally as devastating as ALS.
Another name for rare diseases is orphan diseases because the drug and biotechnology industries generally show little interest in developing treatments for very small patient populations. Historically, most of the research into orphan diseases has been done by scientists operating on NIH grants.
But that pipeline for innovation has been drying up in recent years, subject to the same budget cuts imposed on the rest of the discretionary domestic budget in Washington. NIH appropriations totaled $29.3 billion in 2013, about $300 million less than 2008. Rare disease research gets only a tiny fraction of that. Most federal money goes, as it should, to combat the major killers such as heart disease, cancer, infectious diseases and diabetes.
What little government money is invested in rare disease research is heavily influenced by the loudest patient advocacy groups—like the ALS Association. Yet that isn't necessarily where the greatest likelihood of a breakthrough lies.
Scientists and some drug companies—lured by special incentives and the high prices that now can be charged for drugs for orphan diseases—are making progress in developing therapies for the genetic disorders behind diseases such as Rett syndrome, which strikes young girls, or Duchenne muscular dystrophy, which occurs in about 1 in every 3,600 male newborns, who rarely survive beyond age 25.
My intention isn't to throw cold water on the Ice Bucket Challenge. Have fun. Donate money. But let's not lose sight of the larger problem. The nation through its government is falling down on the job of properly funding research into the causes and cures of rare diseases.
Follow Merrill Goozner on Twitter: @MHgoozner