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Research Update
8/3/2015

By Jill Yersak, PhD.

This past May, I was fortunate to attend the National ALS Advocacy Day and Public Policy Conference in Washington, DC along with my fellow colleagues at The ALS Association.  It was a wonderful experience to meet ALS patients and their caregivers, to hear their personal stories and to better understand the everyday struggles they encounter. I then had the opportunity to work along side of them to educate Members of Congress and their staff about ALS and to advocate for important ALS public policy priorities.

On the second day of the conference, I spent time listening to various ALS programs.  As a former ALS researcher, I was especially interested in and enjoyed the research update “The State of ALS Research” given by The ALS Association’s Chief Scientist Dr. Lucie Bruijn.  Here I hope to summarize her talk, so that not only researchers like myself, but everyday people, especially ALS patients and caregivers, understand her enlightening ALS research update.

Last year the ALS Ice Bucket Challenge (IBC) changed the ALS landscape in monumental ways. It resulted in a large increase in donations, of which a large proportion is already dedicated to ALS research funding.  The number of ALS research proposals submitted to The ALS Association grew exponentially, which will hopefully translate to more potential ALS drugs in the pipeline. ALS awareness increased, so that now, more than ever, people know what ALS is and how devastating an impact it has on patients. Importantly, it translates into hope for patients living with ALS and their caregivers that, with the money raised, research efforts will be accelerated towards a cure.  Understandably, the IBC success also translates into an increased urgency, anticipation and frustration to find an effective ALS treatment.

There are many challenges to finding an effective ALS treatment once a person is diagnosed with ALS.  For example, it is difficult to know what damage was already done to the body, to understand how to reverse the disease in each individual patient (because no patient is alike) and to comprehend why drugs continually fail in clinical trials.  So far, the only ALS drug to successfully make it through clinical trials is Riluzole, which only extends a patient’s lifespan by a few months. This is not good enough!  Some possible reasons why drugs fail in clinical trials are the following: incorrect target/pathway identification; inability for a drug to arrive to its target (across the blood brain barrier); diagnosis was made too late; or trials were designed and tested in the incorrect patient population.  ALS is a complex disease impacting a myriad of patient populations due to its fast and/or slow progressive nature, familial vs. environmental causation, among other differences. It is very likely that a successful treatment will involve more than one drug due to the complexity of ALS disease and the heterogeneity of the patient population. 

The ALS Association along with the clinical and research communities are dedicated and are working tirelessly to better understand the cause of ALS and to then translate their findings toward a cure.  Funding provided by the IBC has propelled the execution of ALSA research programs strategies already in place and initiated promising new strategies.  These include approaches such as sponsoring the TREAT ALS translational program, academic and industry collaborations, supporting infrastructure of multicenter clinical trials and initiating global partnerships and consortiums.  The ultimate goal is to utilize these strategies to expedite finding a cure.

Dr. Bruijn touched on a number of ALSA funded research programs that are all designed to move toward a cure more rapidly.  Here is an overview of the discussed strategies.

1.    Gene Discovery: To harness state of the art technology to increase the finding of genes linked to ALS, which could translate into new therapeutic targets.


        a.    New York Genome Center: An open source consortium capable of generating and analyzing 1000’s of ALS patient DNA sequences.
      

        b.    Project MinE: An international open source ALS whole genome sequencing initiative aimed to sequence a large number of ALS patients compared to healthy controls. Collects tissue samples to construct ALS patient stem cell lines.

2.    Disease Model Development: To understand why drugs that worked in mice have failed in clinical trials.  The goal is to harness a combination of disease models (mice, flies, worms, dogs) along with induced pluripotent stem cells (iPSCs) derived from ALS patients to better understand disease pathways and to ultimately translate findings to ALS patients.

       a.    Neurocollaborative Research Program: Collaboration of three laboratories with industry to speed the development of new ALS treatments.
             i.    Open source Stem Cell and Motor Neuron Core Facility to create iPSC lines - Dr. Clive Svendsen, Cedars-Sinai Medical Center.
             ii.    “Brain bot” microscope technology to screen drugs in motor neurons and iPSC cultures. Ability to track individual neurons and their response to drugs over time – Dr. Steven Finkbeiner, Gladstone Institutes.
            iii.    Use iPSC-derived stem cells to develop antisense therapy for ALS genes C9orf72 and SOD1 – Dr. Donald Cleveland, University of California, San Diego.

3.    Investment in Drug Discovery: To promote academic and industry partnerships to support drug development through Phase I of clinical trials. The goal is to incentivize and de-risk companies to fund innovative ALS drug trials.

4.    Gene Delivery and Therapy Improvement: To discover strategies to safely and effectively move ALS drugs to their targets, especially across the blood brain barrier.

5.    Biomarker Discovery: An exciting avenue to explore for utilization to improve ALS diagnosis, follow disease progression and improve clinical trial outcomes, such as track response to therapy and stratifying patients within trials. 
         a.    Examples of biomarkers in development: Chemical changes in the blood or cerebral spinal fluid, a specific gene signature, and structural or chemical changes in the brain, among others.

6.    Clinical Trials: In collaboration with NEALS (Northeast ALS Consortium), the ALS Association funds Phase I and II clinical trials that include proven biomarker profiles with the goal to continue testing promising drugs into Phase III with the help of an industry collaboration.

Attending this conference and hearing Dr. Bruijn speak has further solidified my belief that The ALS Association is doing everything it possibly can to fund, support and propel the best research programs forward with the ultimate goal of finding an safe, effective ALS treatment.  If you were not able to attend the National Advocacy conference, I encourage you to watch Dr. Bruijn’s research update on YouTube and to keep up-to-date with the ongoing research programs funded by ALSA through visiting their website.  Please see the relevant links below.

Relevant links:
Videos with Dr. Bruijn and other nationally renowned researchers: www.alsphiladelphia.org/research

The ALS Association 2015 National ALS Advocacy Day & Public Policy Conference Summary:
http://www.alsa.org/news/vision-express/articles/june-2015/2015-als-advocacy-day-recap.html

Podcasts with The ALS Association Greater Philadelphia Chapter, including my podcast discussing research more broadly:
www.alsphiladelphia.org/podcasts

Every Month is ALS Awareness Month
5/20/2015

By Dori Malinoff Cowan

(Reposted from Facebook)

10 years ago today, my life changed forever in a split second. I called my mom after her appointment with a neurologist at Penn thinking this would be an inconclusive diagnosis like the MRI and so many other appointments and tests had been. No such luck. My mother's voice sounded distant and scared and she said "I have a problem. They diagnosed me with progressive bulbar palsy with probable ALS." I had done research for a pharmaceutical marketing firm and there were many medical terms I was familiar with but these were foreign to me. I immediately went to CDC's Web site and what I saw on the screen caused me to drop the phone on my mother. Worst onset of Lou Gehrig's Disease (ALS). Prognosis poor- 1-3 years.

I left work within the hour and I came back in on Monday and asked to go part-time so I could be with my mom for whatever time we had left. 2 months later, we went to Australia and New Zealand together for 3 weeks. A dream come true for both of us.

But back to May 20, 2005. I couldn't conceive of a life without my mother. That night, after being with them, my husband and I left their house and I just involuntarily rocked myself saying over and over "What am I going to do?" I never had a strong relationship with my father. My mother was the glue to everyone in our family. She and I looked the same, same height, same coloring, same mannerisms. She was an extension of myself. I talked to her daily.

I have lived 7.5 years without my mom- something I never thought I would be able to do 10 years ago.

I am embarrassed to admit that I didn't even know ALS and Lou Gehrig's were the same disease 10 years ago. Now I know too much. My mother's brother was diagnosed with ALS a year and a half after my mother died at the same exact age. He's still alive on a ventilator. The wounds are still fresh.

It became personal between ALS and myself at that point. I do what I can to increase awareness and to help raise money for research and patient services but it's never enough. My heart goes out to anyone who receives this diagnosis and to those who have to watch their loved one deteriorate in a very dehumanizing way through disfigurement, paralysis, etc. all while the brain and mind stay intact and they are fully aware of what is happening to them.

May happens to be ALS Awareness Month. Every month is ALS Awareness Month to my family and I.

Join Dori and her family at a Walk to Defeat ALS at www.gpcwalktodefeatals.org

In My Mom's Memory
5/4/2015

By Sharon Cichon


My mom was not someone whose face you would see on the news or read about in the newspaper, but she did have a face and a name.  It was Roseann Nagy.

She and my dad were married for 51 years, a life they believed would continue for years to come. This vision would suddenly disappear in June of 2012 when mom received the devastating diagnosis of ALS. I remember her saying, "How could I have this? How did I get this?"   These are the questions everyone associates with this disease. "Why do I have this?"

Mom enjoyed spending time with my dad on the weekends when they would go to play shuffleboard, walk around at a mall, go out to a restaurant, or to the local fire company to have a drink and meet their friends. Since she had been voted "best dancer" in high school, they had always enjoyed dancing together, which they did very well.  She loved taking her grandchildren to movies, malls, antique shops, and out to eat. She especially loved attending their school events and in general, just spending time with them and laughing over silly things. She also enjoyed going to the casino with my dad, and going to flea markets and antique shops. She also loved to spend time with her friends. If you ever wanted  help or advice, it was there for the giving, along with a reassuring smile and a hug.

Mom had worked for a local store (Rite Aid, Mt. Carmel, formerly known as White Shield) for at least 30 years. She had worked first as a store clerk and cashier, and later, as a shift supervisor and office manager. Because of this, she had been very well known and liked.

Approximately 7 to 8 years prior to her diagnosis, mom began having severe "cramps" in her hands which would reduce her to tears. She had begun wearing support braces, while working and at home, on both hands, to try to ease the pain, unsuccessfully. Several years later (2012), mom had fallen down a few steps, breaking her right  ankle in 3 places, requiring surgery. Her other foot also began to droop and she was beginning to have slurred speech. Her primary care physician referred her to a neurologist. After performing several diagnostic tests, he delivered the news to mom that she had ALS. Suddenly, all of the symptoms, though some years and months apart, began to make sense. Throughout the next 18 months of her life,
mom lost many abilities.  She could no longer take those trips to the mall or casino with my dad because she had lost her ability to walk. Gone were the days of taking her grandchildren to the mall, the movies, antique shops, flea markets. They could no longer go out to restaurants because she had lost her ability to swallow.  She was afraid to go anywhere because she didn't think people would understand her slow, soft, slurring speech. She soon required a speech device because she could no longer speak. Soon after, she could not even communicate with that because she could no longer move her fingers. Maintaining nutrition became especially difficult. Though mom had a feeding tube placement, she had difficulty tolerating the tube feedings and would feel sick and bloated afterward. Next came the oxygen delivery because her respiratory muscles were becoming paralyzed. It didn't help much. She coughed and choked frequently, feeling as though she could not breathe.  Following that, was the suctioning of her throat  and injection of pain medication into her feeding tube.  Had it not been for the very compassionate doctor she had, the hospice nurses and ALS Association services, none of us would have been able to make it.  The inevitable happened on January 4th, 2014.

If you would ask anyone what they remember most about my mom, they would most likely say, "She would do anything for anyone, with a huge smile on her face, without expecting anything in return.” Mom always had a smile on her face, regardless of what she was going through at that time.


That is the one thing ALS did not take from her.  Whenever her grandchildren (Karissa and Tommy) would walk into a room, even though she could not speak, her eyes lit up...and there was that smile, full of joy to see them. They would crawl in bed with their beloved "nana", and they gave her great strength until the very end.

My mom was very fortunate to have special friends who were not afraid to visit with her when she was at her worst.  I can only hope that they realize the joy their visits brought.

So when people ask me who my mom was...She was a wife, a mom, a nana, a sister, an aunt, and a dear friend to many...Her name was ROSEANN NAGY and ALS has stolen her life. Though our hearts will continue to feel empty and sad because she is no longer "physically" with us, we will forever continue to smile as we remember  the woman who shaped and inspired our lives by the kind of life she chose to live.

Join Sharon and team Roseann's Rainbows on Saturday, May 16th at the Bloomsburg, Jorge's Walk to Defeat ALS. Register or support a team at www.bloosburgwalktodefeatals.org

A Growing Extended Family Walks to Defeat ALS
3/4/2015

The Walk to Defeat ALS® brings people together for a common goal of ending Lou Gehrig’s Disease. Some join a team to honor a family member, some join for a friend, and some join for a coworker, but everyone, including the over 15,000 people who came to a Walk to Defeat ALS® through the Greater Philadelphia Chapter in 2014, join for the same end purpose.

Lory Kondor’s purpose for joining the Lakewood Walk to Defeat ALS® was to support longtime family friend Ed DeAngelo. Lory and Ed are not just casual acquaintances. In fact, Ed coached her son Kyle in baseball and soccer when he was just seven years old. Now Kyle is 22 and joins his mom and his dad, Kris, in raising money and awareness to end the disease on behalf of someone who has meant so much to them for over 15 years.

“For something like this to happen to Ed is just devastating,” said Lory. “Everybody that knows Ed has rallied to his side. 2015 marks our fourth year at the walk and each year we want to get more involved.”

Ed DeAngelo was a police officer in Ewing, New Jersey and the entire community saw him everywhere. From walking the streets to coaching the teams, Ed was part of the Kondor’s extended family. So when Lory learned that her friend was faced with a diagnosis of ALS, she felt personally affected and motivated to do something. Then, when she made it to the walk, she saw that her extended family had suddenly grown quite a bit.

“Seeing over 1,000 people at the Walk to Defeat ALS® was so powerful and moving. I saw all of those people and realized, I am able to do things, so I WANT to do things,” Lory said. “When you are able to do something and someone else is not, you want to run right in there and make a difference.”

Since that first walk, Lory has looked for more opportunities to make a difference to honor her friend. She started a job at Innophos in 2014 and learned that they have a Jeans Day on Fridays where people can also make donations to a chosen charity. Lory saw this as a chance to help the ALS cause and she mentioned the Walk to Defeat ALS® team and her company got involved.

Not only did Lory’s coworkers at Innophos use the Jeans Day to donate to her walk team, but some also talked to her about their own stories. She put a poster on the wall, which raised awareness of the cause and the event. One coworker told Lory that he had a family member with ALS and he was delighted to learn that there was a walk locally. It was also an opportunity for Lory to direct people to ALS services at The Greater Philadelphia Chapter  so that they could get the support they needed.

From the start, Lory has wanted to devote more money to research and service so that people with ALS can live the best lives possible. She has seen how The ALS Association has helped friends and she follows the news on the local level and nationally. The Walk to Defeat ALS® team for Ed DeAngelo grew a great deal in 2014 and she knows that it will continue to grow as more people rally to the growing extended family. This year, they are wearing past team shirts, which are versions in red, white and blue, and they will have a very patriotic team for their local hero.

What does Lory take from her experience raising money for the ALS cause? “It shows the promise of asking,” she said. “Going to your family, your friends, your company and asking them to get involved can be easy. The first step to ending this disease is to ask everyone you know to do what they can.”

Lory and her husband and son are ready and eager to do all that they can as they  prepare for another great day on May 2 at the Lakewood Walk to Defeat ALS®. She has one more ask though, for you, and everyone reading her story, to register for a walk today.

 


Spring 2015


 

The ALS Association Greater Philadelphia Chapter
321 Norristown Road - Suite 260, Ambler, PA 19002
215-643-5434

The ALS Association is a 501(c)3 nonprofit organization and donations are tax deductible to the full extent of the law.