ALS TDI Joins Forces with Duke ALS Clinic Researchers to Study Rare ALS Reversals

In almost every case of amyotrophic lateral sclerosis (ALS), the disease is progressive – with gradual weakening of the muscles, paralysis, and, eventually, death. While it may happen faster or slower for some, and start in different parts of the body for others, the end result is almost always the same.

There are, however, exceedingly rare exceptions to this rule. There are a handful of documented cases of what have come to be known as “ALS Reversals,” in which a person is diagnosed with ALS, progresses for a time, and then improves, with recovery of most lost function. For years, it has been widely assumed in the ALS space that cases like these were examples of a misdiagnosis – where the person in question likely never had ALS to begin with.

However, research led by Dr. Richard Bedlack of the Duke University ALS Clinic has demonstrated that in some very, very rare situations there is evidence that individuals really have experienced a reversal of their ALS progression. Looking at hundreds of purported ALS reversals, Dr. Bedlack and his team have thus far been able to verify 50 cases in which the individuals in question did appear to have valid diagnoses of ALS, progression to disability, then later a dramatic and objective recovery of lost motor function.

“I never knew this could happen until a few years ago,” says Dr. Bedlack. “Now I am obsessed with it. I believe that understanding why these ALS reversals happened could lead to a treatment that allows us to make them happen more often.”

The reason why some cases of ALS could stop or reverse is still unknown. Dr. Bedlack and his group have dedicated themselves to unraveling this mystery by learning as much as they can about the small cohort of individuals who have experienced ALS reversals.

In the interest of furthering this goal, the ALS Therapy Development Institute (ALS TDI) has recently announced a partnership with Dr. Bedlack and the Duke ALS Clinic to help them learn more about ALS reversals. This collaboration will leverage ALS TDI’s ALS Research Collaborative (ARC), in which ALS TDI partners with people with ALS around the world to share and gather data on the disease. ALS TDI will lend their expertise in gathering and analyzing data on diverse cases of ALS to investigating what could be causing ALS reversals – and to see if this knowledge could help us to better understand the disease.

“The idea of our ALS Research Collaborative, learning about ALS from people with ALS, aligns very well with trying to learn about ALS reversals from people whose ALS has reversed,” says ALS TDI Chief Scientific Officer Dr. Fernando Vieira. “The philosophy of ARC has been to see if we can learn about why somebody has a slower disease, so that we can use that knowledge to identify ways to slow down the disease for everyone. This is just a more extreme version of that.”

In order to facilitate this, ALS TDI scientists will use the ARC's in-home blood collection program to collect samples from Dr. Bedlack’s patients who have experienced rare ALS reversals. They will use these samples to generate a full RNA profile of each individual, as well as quantifying the abundance of thousands of specific proteins in the blood samples from the same people. The hope is that these data might provide helpful clues for the development of future ALS therapies.

“We're trying to understand the biological state of these people who have experienced ALS reversals,” says Dr. Vieira, “and then we'll try to reverse engineer those processes to help people with more conventional ALS, in the hopes that we might be able to make the same thing happen. There are a lot of steps between discovering those processes and finding a drug that can recreate them. But this is an approach that I feel obligated to pursue.”

“I have been a huge fan of ALS TDI for years,” adds Dr. Bedlack, “I am thrilled to have the brilliant minds in this group involved in studying the ALS reversals. Collaborations like this will speed our search for answers and eventually better treatments.”

For more information about ALS TDI’s research to end ALS, click here.