ALS Updates

The Ultimate Gift –

Right To Try Bill signed by President Trump (Washington, DC)

May 2018 – The “Right to Try” bill allows terminally ill patients to request access to experimental medicines that have passed Phase 1 of the Food and Drug Administration approval process. It authorizes patients diagnosed with life-ending illnesses to use unapproved medications— so long as they have undergone early testing on humans and are under continual evaluation. Patients also would have to have tried other treatment options.

Wake Forest University Looking for a new Therapeutic Approach (Winston-Salem, NC)

September 2015 – Researchers at Wake Forest have found a new treatment that may delay the onset of symptoms and increase the lifespan for those who are afflicted with ALS. The study was conducted in the mutant SOD1 mouse model of ALS and plan to continue to modify purification protocols, dosage studies in mice, and seek independent confirmation of effect. These studies will provide essential pre-clinical results so they can apply to move forward to patient studies (apply for an IND with the USFDA).

May 2015 – Two year update on Hsp70 project.

March 2015 – Wake Forest Baptist Health provides another year of funding for the Hsp70 project. With continued promise of these investigations, the intent is to apply for an IND with the USFDA and devlop a first time in human study of the protein.

October 2014 – Researchers have found a new treatment that may delay the onset of symptoms and increase the lifespan of those with ALS. The researchers have determined that injections of a particular type of protein called heat shock protein (Hsp) 70 may benefit ALS sufferers. Read more.

Brandeis University Continues Search for Cure for ALS (Waltham, MA)

October 2015 – Significant progress has been made this year in deciphering where receptors have been shifted in the ALS model flies, and why. While they had previously discovered that growth signaling receptors were lost from an early endosome in the ALS model flies, they did not yet know to where they had been diverted. This year, they discovered that the receptors had been shifted to a recycling endosome compartment (which is responsible for sending receptors back to the cell surface). Update on Brandeis project.

February 2014 – Update on Brandeis project.

January 2014 – 

Relying on previous research into amyotrophic lateral sclerosis that uncovered a set of important cellular processes that cause degeneration when misregulated, Deshpande is studying how the membrane-bound packets carrying survival cues inside neuronal cells are formed, loaded and transported; how mutations that cause ALS affect these events; and how the events can be manipulated to treat the disease. She is employing genetic tools to attempt to manipulate the packets’ growth signals and transport machinery in fruit flies that have been engineered to model ALS in hopes of restoring the neurons to a healthy state. Deshpande will also collaborate with assistant biology professor Suzanne Paradis, an expert on mammalian neuronal development and synapse formation, to test how the findings from her fruit fly experiments apply to ALS models in mammalian neurons.

 Read more.

Penn Team Reduces Toxicity Associated with Lou Gehrig’s Disease in Animal Models (Philadelphia, PA)

Dec. 17, 2013 – In a new study published in Nature Genetics, University of Pennsylvania researchers and colleagues have made inroads into the mechanism by which ALS acts. Working with a powerful fruit fly model of the disease, they found a way of reducing disease toxicity that slows the dysfunction of neurons and showing that a parallel mechanism can reduce toxicity in mammalian cells. Their discoveries offer the possibility of a new strategy for treating ALS. Read more.

One Gene Predicts Rapid ALS progression 80% of the time (Houston, TX)

Dec. 7, 2012 — The debilitating symptoms of amyotrophic lateral sclerosis, or ALS, appear to be increased by a lack of inflammation-reducing T cells, report scientists from the Methodist Neurological Institute in an upcoming print issue of the journal EMBO Molecular Medicine. The researchers found that expression of the genee FoxP3 — which helps control the production of anti-inflammatory T cells — was an indicator of disease progression in 80 percent of the patients they studied. Low FoxP3 levels were likely in patients whose ALS would develop rapidly, and vice versa. This is the first demonstration that regulatory T cells may be slowing disease progression, since low FoxP3 indicates a rapidly progressing disease,” said Assistant Professor of Neurology Jenny Henkel, Ph.D., the study’s lead author. “Levels of FoxP3 may now be used as a prognostic indicator of future disease progression and survival.” The relationship between inflammation and ALS progression is well established in humans and animal models, and many genes influencing disease development have been identified. “While inflammation exacerbates disease in ALS patients, this inflammation is suppressed in some patients,” Henkel said. “The data in our article suggest that regulatory T cells can suppress this inflammation.”

In their EMBO paper, Henkel, Professor of Neurology and Chair Stanley Appel, M.D., and their team provided supportive evidence that the genes FoxP3, TGFβ, IL4, and Gata3 are involved in ALS development. But Henkel and Appel’s work also suggests FoxP3 is the best indicator of disease progression when ALS symptoms first appear. “While expression of FoxP3, TGFβ, IL4, and Gata3 may serve as indicators for latter stages of the disease, our work suggests only FoxP3 was a prognostic indicator early in the disease,” Henkel said. “After following a group of ALS patients for three and a half years, low FoxP3 levels predicted a rapidly progressing disease 80 percent of the time.” Foxp3 and Gata3 are transcription factors that influence production of regulatory T cells, and Th2 “helper” T cells. TGFβ and IL-4 (interleukin 4) are anti-inflammatory cytokines. Henkel, Appel, and their team studied three patient groups. In the first group, the researchers took blood samples from 54 ALS patients at different stages of the disease and from 33 healthy control volunteers. Flow cytometry and PCR were used to determine the character of white blood cells, specifically regulatory T cells, and to measure the expression levels of genes of interest. A second patient group (102 ALS, 28 healthy) was studied specifically to assess the predictive power of FoxP3 expression in ALS disease development. A third group consisting of deceased persons (affected and healthy) was studied for the purpose of establishing endpoints for T cell production and gene expression. Development of ALS was assessed using the Appel ALS score, a widely used standard that Appel developed.

The relationship between inflammation and ALS progression is complex. Inflammation is an important initial response to injury or microbial attack, Appel says, but prolonged inflammation can actually make the damage worse. “While this inflammation is tolerable for the short term, when the inflammation persists, the pro-inflammatory cytokines and certain chemicals produced by glial cells called microglia will injure and eventually kill the surrounding neurons,” Appel said. “Our research verifies that inflammation is accelerating disease progression, that regulatory T cells and Th2 cells may slow disease progression, and that modifying regulatory T cells appears to be a viable treatment option.” Henkel and Appel said researchers are closing in on specific targets for modifying the inflammation that drives progression of the disease, and that they are closer than ever to developing new treatments for this severely debilitating condition.

Interplay between neuronal firing and membrane traffic to be investigated (Waltham, MA)

September 13, 2012 – Chances are you didn’t spend much time this morning getting your shoes on or thinking about which route you would take to work. But for people suffering with debilitating diseases such as ALS (Lou Gehrig’s disease) or Alzheimer’s, such simple functions — and even activities like breathing and eating — can be a struggle. They are the people that Avital Rodal, assistant professor of biology, hopes to help through research that has just been funded by the National Institutes of Health. She hopes her work, which asks how neuronal firing affects transport of materials within neurons, will someday provide not only answers, but lead to solutions. Read more here.

Professor Rodal Wins New Innovator Award: Brings $300K a Year for ALS Research (Waltham, MA)

September 21, 2012Brandeis Professor, Avital Rodal has been awarded the Director’s New Innovator Award, which includes a $300,000 annual grant for the next five years given by the National Institute for Health. Her research is tackling long unanswered questions which may one day lead to a more thorough understanding of the disorder, and hopefully, a treatment. Read more here.

Wake Forest Research Update (Winston-Salem, NC)

September 1, 2012 – The investigators at Wake Forest have completed the experiments investigating if administration of AICAR may be a potential therapeutic strategy for ALS…(AIM-2). Unfortunately, the results suggest that this is not the case. The group is preparing a short communication to relay the results to the scientific community. While we are disappointed, we must acknowledge that even negative results are critical for our war on ALS®. These negative results will help direct new directions for research.

Scientists Identify New Gene That Influences Survival In ALS (Worcester, MA)

August 26, 2012 – A team of scientists, including faculty at the University of Massachusetts Medical School (UMMS), have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease). The study, published August 26 in Nature Medicine, describes how the loss of activity of a receptor called EphA4 substantially extends the lifespan of people with the disease. When coupled with a UMMS study published last month in Nature identifying a new ALS gene (profilin-1) that also works in conjunction with EphA4, these findings point to a new molecular pathway in neurons that is directly related to ALS susceptibility and severity. Read more here.

Newly Discovered Biomarker for ALS (Boston, MA)

August 6, 2012 – For the first time, researchers from Brigham and Women’s Hospital in Boston (BWH) have identified a blood biomarker that could not only help to identify ALS earlier, but also help pave the way to new treatments that could significantly slow – or even stop – the progression of the deadly disease. Read more here.

Discovery May Lead To New Treatment For ALS (Portland, OR)

July 18, 2012 – Researchers at Oregon Health & Science University School of Dentistry have discovered that TDP-43, a protein strongly linked to ALS (amyotrophic lateral sclerosis) and other neurodegenerative diseases, appears to activate a variety of different molecular pathways when genetically manipulated. The findings have implications for understanding and possibly treating ALS and neurodegenerative diseases such as Alzheimer’s and Parkinson’s. Read more here.

Irish Research Team Makes Major Breakthrough (Ireland)

May 30, 2012 – Irish researchers have made a major breakthrough in the treatment of the deadly motor neuron disease, or Lou Gehrig’s disease, as it is often know. The research team at the Royal College of Surgeons in Ireland have discovered how the body protects itself against the onset of motor neuron disease. Read more here.

New Genetic Test to Aid in Diagnosis of ALS (Madison, NJ and Worcester, Ma)

April 25, 2012 — Quest Diagnostics, the world’s leading provider of diagnostic testing, information and services, today announced a new genetic testing service from its Athena Diagnostics business unit, a leader in neurology diagnostics, for ALS. It is the first clinically available testing service for detecting hexanucleotide repeat expansion in the C9orf72 gene. Research published in the April 2012 issue of The Lancet found that the C9orf72 mutation was present in up to 39% of familial (inherited) ALS cases examines, and between 48% in sporadic (no known family history) cases, in a mutli-national study population. The test is offered to aid in the diagnosis of familial and sporadic ALS. “C9orf72 may turn out to be one of the most important discoveries in the history of ALS genetic research.” said Richard Bedlack, M.D. director of the Duke University ALS Clinic. “Preliminary work suggests that this is the most common identifiable cause for ALS in patients with or without a family history of the disease.

Dr. Siddique Announces Multiple Research Presentations (Chicago, Il)

March 2012 – Multiple papers and presentations on the resent breakthroughs at Northwester University. Read more here.

A Second Breakthrough from BMF supported work at Northwestern University (Chicago, Il)

November 2011 – Following a major Northwestern Medicine breakthrough that identified a common converging point for all forms of amyotrophic lateral sclerosis (ALS and Lou Gehrig’s disease), a new finding from the same scientists further broadens the understanding of why cells in the brain and spinal cord degenerate in the fatal disease.  Read more here.

Research Breakthrough from BMF supported work at Northwestern University (Chicago, Il)

August 2011 – The underlying disease process of amyotrophic lateral sclerosis (ALS and Lou Gehrig’s disease), a fatal neurodegenerative disease that paralyzes its victims, has long eluded scientists and prevented development of effective therapies. Scientists weren’t even sure all its forms actually converged into a common disease process. But a new Northwestern Medicine study for the first time has identified a common cause of all forms of ALS. The basis of the disorder is a broken down protein recycling system in the neurons of the spinal cord and the brain. Optimal functioning of the neurons relied on efficient recycling of the protein building blocks in the cells. In ALS, that recycling system is broken. The cell can’t repair or maintain itself and becomes severely damaged. The discovery by Northwestern University Feinberg School of Medicine researchers, pulblished in the journal Nature, provides a common target for drug therapy and shows that all types of ALS are, indeed, tributaries, pouring into a common river of cellular incompetence.