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UBQLN2 Mouse Models Replicate Key Human ALS Disease Features

Your research donations make a difference! ALS Association funded Dr. Mervyn Monteiro, Professor at the University of Maryland School of Medicine, developed novel ALS mouse models expressing mutant ubiquilin 2 (UBQLN2), a cause of inherited ALS-FTD that was published this week in the journal Proceedings of the National Academy of Sciences (PNAS). Importantly, these mouse models demonstrate many characteristics of ALS observed in humans, thereby providing valuable tools for identifying disease pathways in ALS and for investigating therapeutic strategies to treat ALS.

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Novel Potential Therapeutic Targeting C9orf72 ALS Discovered – Interview with Dr. Gitler

Dr. Aaron Gitler and his colleagues recently published a paper in the August 12th issue of Science uncovering a potential new therapeutic target aimed at C9orf72 ALS, supported by The ALS Association. He found that inhibiting just one protein, called Spt4, significantly reduced toxicity caused by the C9orf72 repeat expansion. Learn more about how he used a simple model, yeast, to make this discovery and its therapeutic potential to treat ALS. And join us on November 7th to hear from Dr. Gitler during The ALS Association research webinar series (see details below).

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Novel ALS PFN1 mouse model developed and new C9ORF72 disease mechanism uncovered

The ALS Association Research Department is pleased to show their research dollars in action. Two new papers that were recently published in high impact scientific journals Proceedings of the National Academy of Sciences (PNAS) and Cell were supported by The ALS Association. The first paper by Drs. Zuoshang Xu and John Landers from University of Massachusetts Medical School in Worcester, Mass., demonstrates a novel profilin 1 (PFN1) mouse model that displays disease characteristics similar to human disease. This paper underscores the importance of developing novel animal models to understand ALS disease processes and to discover new therapeutic targets. The second paper by Dr. J. Paul Taylor and colleagues from St. Jude Children’s Hospital in Memphis, Tenn. reveals a new disease mechanism involving the C9ORF72 expansion mutation that will be targeted for ALS therapy.

Our friend Ted

ted-haradaOur friend Ted Harada passed away this week.

Many of you may have known him. Ted was first diagnosed with ALS in August 2010 and immediately became a tireless advocate, volunteer, and voice of the ALS community.

He had served on The ALS Association Board of Trustees and on the board of directors for the Georgia Chapter, devoting precious hours of his life to steering our Association in the right direction.

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NYGC’s Research Program Probes the Genetics and Genomics of ALS

Center for Genomics of Neurodegenerative Disease, New York Genome Center – By Dr. Hemali Phatnani

Through donations from the ALS Ice Bucket Challenge, The ALS Association is supporting strategic initiatives that emphasize collaboration, data sharing and state-of-the-art scientific methods. Here we feature the Center for Genomics of Neurodegenerative Disease (CGND) at the New York Genome Center (NYGC). Meet Dr. Hemali Phatnani and learn about how the CGND at the NYGC is making a huge impact on ALS research.

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One of the Nation’s Largest ALS Precision Medicine Initiative Now Enrolling

In August 2015, The Association committed $3.5 million from money raised through the ALS Ice Bucket Challenge to the Genomic Translation for ALS Care (GTAC), a collaborative nationwide precision medicine initiative through Columbia University Medical Center (CUMC) and Biogen, which is being led by Dr. Matthew Harms. GTAC is actively enrolling now (scroll to the bottom for more details) with the ultimate goal of ensuring the genetic characterization of all people living with ALS.

harms-faculty-photo-1“There are several exciting aspects of the GTAC study,” said Dr. Harms. “On a larger scale than ever before, this study will combine the genomes, gene expression profile and clinical symptoms of a patient to look for shared factors among patients with ALS. We hope this information will allow us to design more successful clinical trials and eventually design personalized therapies for patients. The GTAC study also plans to return genetic findings to its participants, allowing them to learn about how their genes might be contributing to their disease.”

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ALS Gene C9orf72 Damages DNA Revealing a New Disease Pathway

Today, a new disease pathway for C9orf72-related ALS was revealed in journal Neuron in a study led by principle investigator Dr. Fen-Biao Gao from the University of Massachusetts Medical School in Worcester, Mass. The research team found that the C9orf72 expansion leads to DNA damage, signifying another potential ALS therapeutic target. The ALS Association supported this encouraging study that also included current and past Milton Safenowitz Postdoctoral Fellows Dr. Dejun Yang (2015 recipient) and Dr. Helene Tran (2012 recipient).

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Pictured above: Dr. Gao’s laboratory team

 

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“Our ALS Association grant on iPSC models of ALS (2013–2016) played a key role in this study. In fact, this grant helped us accomplish much more than what we proposed in the initial application, because our research moves forward quickly. For instance, this grant also helped us on the studies of nucleocytoplasmic transport defects and the beneficial effects of Spt4 knockdown in iPSC-derived patient neurons with C9ORF72 repeat expansions (Freibaum*, Lu* et al., Nature 2015; Kramer et al., Science 2016).” – Dr. Gao, Principle Investigator

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Singing for a Cure

Deborah Silver, an accomplished vocalist and performer, has been active in the fight against ALS since 2009, when her sister was diagnosed with the disease.

My sister, Marjie Block, was diagnosed with ALS in 2009. I was by her side visiting doctor after doctor hoping to get any diagnosis other than ALS. We even prayed for Lyme Disease….anything but ALS! Ultimately, this unfortunate diagnosis stayed the same and Marjie’s courageous battle began.

As our family rallied behind her, we became determined to win this seemingly unwinnable ordeal and have committed ourselves to fighting alongside all ALS patients. My children have launched several projects to raise funds for a cure including my daughter’s website, hopeheARTbyMadison.com, so far raising over $100,000. Having always felt there is a reason for everything, perhaps this disease ended up in our family because we simply will not rest until ALS is eradicated. This is why I am always trying to come up with ideas of how to raise even more funds for a cure.

Throughout this process, I have met some of the most impressive and special people in the world who also happen to be battling ALS. My heart goes out to everyone and their families struggling with this horrendous disease.

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FDA Accepts New Drug Application for Potential ALS Treatment Edaravone

Following up on our June 2016 blog post about edaravone, an intravenous drug therapy produced by Mitsubishi Tanabe Pharma Corporation, locally based in Jersey City, N.J., with a head office in Osaka, Japan, there has been recent news as to the status of the drug in the U.S.

At the end of August 2016, the U.S. Food and Drug Administration (FDA) accepted a New Drug Application (NDA) for edaravone, which has been used to treat stroke victims in Japan for the last twenty years. In a phase II clinical trial of edaravone, in a sub-group of people with ALS in Japan, researchers found a statistically significant improvement in the ALS Function Rating Scale-Revise. Edaravone works by getting rid of toxic by-products generated in cells, which is thought to protect against oxidative stress.

An “NDA” includes a comprehensive overview of a drug, including results and data analysis for the entire clinical development program and earlier preclinical testing, as well as the proposed labeling and manufacturing plans of the new drug.

This is extremely positive news for the ALS community, as acceptance of the NDA is the final stage of the development and approval process. Moreover, this is the first time that the FDA has ever accepted an NDA without first requiring an Investigational New Drug Application (IND), something that would have delayed the delivery of edaravone by many years. We appreciate the FDA for taking this step to help speed the approval of a potential ALS therapy. If approved, edaravone would be commercialized under the brand name Radicava™

While the company requested “priority review” for edaravone, which would have meant a six-month review time, the FDA accepted the application with a standard ten-month review. This means that a decision on the application is expected by June, 2017 based on timelines set by the Prescription Drug User Fee Act. This does not mean that the review will take the full ten months or preclude the FDA from acting sooner. We have been in contact with our colleagues at the FDA to reiterate the urgent need to move forward as quickly as possible.

The ALS Association joins the ALS community in urging a timely review of edaravone so that, if approved, it becomes available to people living with ALS as soon as possible. Every day makes a difference to people and their families fighting this disease. This truly is an exciting development for the ALS community, as it’s only the third potential ALS drug in history to advance this far in the drug development process (Riluzole and Myotrophin were the first two).

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“Not Alone” – A Daughter’s Perspective

Jordan Jhaveri is part of a family living with ALS. She was eleven when her dad, Akhil, was diagnosed in 2011. Here she gives her sixteen-year-old perspective that was recently posted on her dad’s blog recently.

As my dad’s health declines it’s gotten a lot harder to “keep on keepin’ on.” I’ve decided to share my perspective so that maybe other people can know they are not alone in their battles.

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Jordan Jhaveri

No one is truly “put together.” No one actually has everything “under control.” I am convinced that life is a big card game in which it is part chance, part strategy and planning, and we make up all the rules as we go. Even when someone seems to be completely untroubled, there is no way to know what happens behind closed doors.