Blog Because You Can - Summer 2015 RSS Feed
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

 

New Named Funds
7/16/2015

By Jeff Cline

The Greater Philadelphia Chapter is pleased to announce two new Named Funds.

The Eileen Spence Fund has been lovingly created by her husband, Tim, to honor Eileen’s deep love for her family and to help those who continue to fight ALS. A celebration luncheon was held at the Ambler office to commemorate the Spence Family gift. Patient Services Director, Brenda Edelman, and Annual Giving Manager, Donna Cleary, welcomed Tim and his family: daughter, Amanda, sons Chris, (Melissa) and Brian (Meaghan), and 3 grandchildren. Tim’s two sisters, Joanne Haines and Nancy Morrow who were very active in helping with Eileen’s care were also in attendance.


The Despina M. Grimes Fund, established by her husband, Robert L. Grimes, will support the Chapter’s ALS Association-certified Clinic at the Penn State Milton S. Hershey Medical Center in Hershey, PA. Joining Mr. and Mrs. Grimes at a surprise reception held in June were members of the Chapter’s patient services staff in Hershey who help provide care to Mrs. Grimes. From left: Susan M. Walsh, Director of Clinical Services – South Central PA; Maryann Jones, Social Worker; Judy Lyter, Nurse Counselor; Maureen Reid, Staff Nurse; and Barbara Gascho, Pastoral Care Counselor.

The Greater Philadelphia Chapter’s Named Fund Program was instituted in 2008 as part of a $5 million Major Gifts Campaign, which successfully concluded in 2013. It continues to be a meaningful way for individuals and families to honor or remember their loved one.

To date, 38 Named Funds have been created generating in excess of $1.1 million for patient and family services, research, or to support the Chapter’s overall mission. Each Fund has a page on the Chapter’s website, receives plaque recognition and is listed in the Annual Report as it is considered a permanent part of the Greater Philadelphia Chapter. During the extraordinary Ice Bucket Challenge phenomenon in August of 2014, the Chapter received nearly 250 Ice Bucket gifts directed to a Named Fund.

Individuals or families interested in learning more about Named Funds are invited to visit www.alsphiladelphia.org/NamedFunds, or may contact these development staff members:

•    Donna Cleary at 215-664-4133 / donna@alsphiladelphia.org
•    Jeff Cline at 215-664-4127 /  jeff@alsphiladelphia.org

Mac's M-N-Ms
7/16/2015

My name is Ruth McElheny Stephens, captain of team Mac's M-N-Ms. On June 6, 2015 our team of 65 strong came out to support ALS research at the Hershey Walk to Defeat ALS®.


 
ALS research is very important to all those touched by this disease, but especially so for our us, the McElheny family, as we have had 11 people in our family pass away from this devastating disease. Unfortunately, ALS is common in our family through the SOD1 gene mutation. Having so many members of our family face this disease made the walk very important to us, but this day was especially poignant.

My brother Matthew McElheny died the week before the walk and his funeral was only the day before the walk.       
           
All the preparation leading up to the walk in Hershey was frantic- and fun (the day of the walk was like herding cats!). Seeing more and more family and friends join our team each day was amazing!  We went from 10 to 22 to 65 people total!  I was blown away.... not only by the turnout, but by the awareness that we were able to spread at work and to coworkers and friends was wonderful.  I was shocked that so many people still do not know what ALS is and what it can do to a person and a family. 
   
ALS entered our family in 1951 with my grandfather Kenneth McElheny. He was treated and tested for numerous things until he finally traveled to the Mayo Clinic in Minnesota where he was diagnosed with Bulbar onset ALS at age 40, just ten years after Lou Gehrig passed away from the disease.  He was a farmer in upstate NY and an Agriculture major from Alfred State. The timeline for the disease was set for our family as he lived only a year from first symptoms. We soon learned that we had the inherited form of this ugly disease and had short time from diagnosis to death with 1 and a half years as the average from first symptoms.
 
Since 1951 ALS has touched our lives as a family many more devastating times, with Charles McElheny, (Ken's brother) in 1959, Robert McElheny, (Ken's brother) in 1984, Lowell McElheny, (Ken's son) in 1993, Daniel McElheny, (Ken's son) in 2003, Wendy Myerholz ,(Ken's cousin) in 2002, Robert Fowler (Ken's cousin) in 2007,Ann Mullins (Ken's cousin) in 2007, Walter McElheny (Ken's cousin) in 2007,April Keith (Ken's  granddaughter) in 2012, and most recently, Matthew McElheny (Ken's grandson) in 2015, right before the walk. Yes, you read that correctly, 11 of us.
 
We as a family have seen dramatic changes in the research and treatment of ALS through the years. When my grandfather was diagnosed in 1951, it was pretty much go home and die. In 2003 when my father Daniel died they were just on the research to discover the genes that cause it.  When my brother passed we knew that he had the SOD1 gene. Progress is being made. Now there is hope in the future for treatment. We are hopeful for a cure.
 
I have been asked , "What has been the effect on the family and friends of ALS patients?"

Our friends and family look for ways to change their world. We need to live life so that we make every day count and have influence for the better. Go and do things you want, don't put them off. Cherish each and every day. We have learned that we cannot see the future, if we could, I am sure that many of us would not like what we saw.  How can we change our world (at least the things right around us) for the better?  Do things you can do, like get involved with research, raise funds at a Walk to Defeat ALS®, create awareness and support your local ALS clinics.  If you have had experience with this disease,  you are now a knowledgeable resource that the clinics can use, so use your story to become an advocate.  Do we not panic every time we feel a muscle twitch? YES we do, but we also rely heavily on our Christian faith that Christ sees the final tapestry and we only see the row we are being woven into.  He knows our future, we can rest in Him.
 
The Hershey Clinic was invaluable to our family during my father's illness with a lending closet. Yes folks, they lent us equipment we needed! Please donate used equipment because maybe someone else may need it! Other family members have mentioned that The ALS Association has been a tremendous help to them as well in other states. My brother was a veteran and the ALS Treatment Center at Hershey Medical Center connected them to the local Veterans Association for assistance and equipment.  It took many tons of paperwork and persistence, but it is worth it and the clinics have many ways to assist all ALS families.  Please support them.
   
 Our family has been involved in research since 2004. I myself am in a University of Miami research study and others as well.  We are most hopeful for a cure for ALS.  A future without ALS would be wonderful. We are getting closer and closer every day!
 

   
    We loved being part of the Hershey Walk to Defeat ALS!!!!! Hope to see you next year.....
                KEEP UP THE FIGHT!!!!
 
                         Defeat ALS!!!!

Continue to support the ALS Treatment Center at Hershey Medical Center and Mac's M-N-Ms team all year round at www.hersheywalktodefeatals.org


 

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.