Mitsubishi Tanabe Pharma has announced that the FDA has accepted their NDA filing for Edaravone to treat ALS. Read more about what this means for our PALS by clicking the link below.
http://www.mt-pharma.co.jp/e/release/nr/2016/pdf/e_MTPC160830_RC.pdf
Everyone is excited about the recent news that two new genes, NEK1 and C21orf2, were identified as susceptibility genes in ALS. This news adds to the growing sentiment among researchers that our genetic make-up plays an important role in who is at risk to develop ALS and that implicated genes can provide clues about what causes ALS as well as provide targets for treatment.
Familial ALS (FALS) cases comprise between 5-10% of all ALS and is generally a dominantly inherited disease, meaning that one of the individual’s parents passed on the abnormal gene. Remember that a gene contains the code for producing a particular protein and that the code is in the form of a series or sequence of building blocks called nucleotides. A change in that sequence is called a polymorphism and some changes are not deleterious while other changes result in a damaged protein and are termed mutations.
Almost 20 % of people with FALS have a mutation in the gene that codes for the protein Cu/Zn superoxide dismutase located on chromosome 21. To date scientists have now identified more than 30 different genes that when mutated can either cause or increase the risk of developing ALS. In fact, the most common genetic cause of ALS is the abnormal extra chromosomal material in the C9orf72 gene, called a hexanucleotide repeat. This abnormality has been found not only in 23% of families with ALS but also in 5-7% of people with ALS and no family history -i.e. people with sporadic ALS.
NEK1 is the latest gene identified to show a specific variation from the normal sequence in upwards of 3% of people living with ALS. What is most exciting is that this abnormality was identified through a world-wide collaboration of scientists collecting genetic material (DNA) and sequencing the entire genome (all of the genetic material from each individual) from more than 1000 familial cases of ALS. Additional examination of more than 13,000 sporadic ALS individuals also revealed an increased percentage of people with the same specific variation in the NEK1 sequence when compared to normal controls. This variation in the sequence would result in a possible loss of function in the NEK1 gene. NEK1 plays many roles in the cell, some of which have been implicated as a cause of neuronal damage in ALS including a role in the cytoskeleton which is important to transport in the nerve cells, regulation of membranes of mitochondria important in energy production, and a role in DNA repair.
It is clear that as we identify more and more of these variations in “susceptibility” genes, we will gain a better understanding about the pathways that are important for disease. Even more importantly we may be able to use these variations to stratify populations for individualizing therapies directed at particular pathways implicated by the genetic makeup of individuals with either sporadic or familial ALS.
Read more about the newly discovered NEK1 and C21orf2 FALS genes from ProjectMinE, and find out more about this initiative started by PALS! https://www.projectmine.com/news/
RESNA (Rehabilitation Engineering and Assistive Technology Society of North America) and NCART (National Coalition for Assistive and Rehab Technology) held their 2016 Conference, Promoting Access to Assistive Technology, in Arlington Virginia this past week. Sara Feldman, the Physical Therapist and Assistive Technology Professional at the MDA/ALS Center of Hope attended the conference and reported on her experience.
The week began with a full day Instructional Course given by Emma Smith, JumpStart Occupational Therapy, on “Access to Mobile Devices for Individuals with Physical Disabilities. This was a hands-on workshop where we were able to try the different options available in our own mobile devices as she presented them as well as try the adapters and switches she provided. This was one time when everyone was encouraged to play with his or her phone in class!
Pictures from Emma Smith's workshop
The next day brought the main conference, which has tracks focusing on different aspects of assistive technology, but every class seemed to have a mix of end users, clinicians, engineers, researchers, suppliers and manufactures. Many people carried more than one of those roles! The opening plenary session focused on “Research As the Keystone to Improving Assistive Technology.” The panel included Carla Bailo, from Ohio State University and ECOS Consulting; Ann Spungen, from Icahn School of Medicine at Mt. Sinai and the Veterans Administration; and Kenneth Ottenbacher, from the University of Texas Medical Branch.
Next I attended the Accommodations Show and Tell, where different presenters show different accommodations or adaptations that they have recently made. It is a fast paced but genial environment for people to share their success stories. I pretty much just listened in amazement to some of them and with inspiration to others. One engineer from Puerto Rico designed his own switches and switch interface for the iPod from easily acquired items; Therese Willkomm (via video) presented several “homemade” mounts to hold devices on the wheelchair or tabletop; and two different apps in development were shown, one for home accessibility and one for multiple alarms. There were two other interesting presentations on specific work accommodations.
The next session was from Steven Mitchell, Cleveland VA Medical Center, “Using Ice Cubes to Make Snowflakes: Addressing Power Mobility Needs in ALS Using Common Configurations” was relevant and he had some good points to consider. In his experience, he saw many individuals with ALS for PWC evaluations and noticed a pattern in certain modifications he requested in head and arm supports. He now asks his vendors to supply these items earlier on in the evaluation and fitting process.
A Town Hall type meeting on the issue of Complex Rehab Technology ended the day. Too many stories were told of people with disabilities not being able to access the assistive technology they need due to CMS and insurance providers. Frustration was expressed by the end users as CMS has seemed to taken them completely out of the picture; frustration from the clinicians who are trying to prescribe the most appropriate equipment but are facing denials; frustration from the suppliers as they are feeling pressure from their clients to get the equipment and from their billing department to wait until the approvals come through; and frustration from the engineers and manufacturers who watch as their products and designs that can make such a difference in a person’s life go unused. There was a contingent going to speak to the legislature on Thursday and express their concerns. Everyone was encouraged to continue to reach out to their local representatives.
Wednesday morning’s Plenary Session, “Advancing Policies that Improve Access to Assistive Technology,” revealed a panel of federal officials and Washington based policy experts. John Wren, is the Deputy Administrator for the Center for Integrated Programs within the Administration for Community Living; Jennifer Sheehy is the Deputy Assistant Secretary of the Office of Disability Employment Policy in the US Department of Labor; John Tschida is the Director of the National Institute on Disability, Independent Living, and Rehabilitation Research; Peter Thomas is a principal with Powers, Pyles, Sutter and Verville, a Washington DC based law firm. Each expressed their own personal experience living with a disability as a part of their presentation. The first three gave an overview of what their agencies were doing to advance policies in regard to assistive technology, but Mr. Thomas’s tone was not as confident in the federal government. His comments brought several rounds of applause in support when he expressed the thoughts of many that the rules governing appropriate access to AT are “ridiculous.” “DME (durable medical equipment) has been cut to the bone and we have to push back.” There was some discussion on how this gets done, and it came down to the constituents letting their legislators know how they feel. “Lots of volume and loud voices make change.”
The next session was a fun demonstration on the work out of Craig Hospital on making video games accessible for individuals with disabilities. The presenters, Erin Muston-Firsch, OT and Patrick Wagner, RET, were a great team and showed us the spectrum of options including changes you can make within some games operating system; modifications or additions to the users current controls; adaptive controls you can purchase; and some of the custom devices they have fabricated for their clients. While gaming does not often come up in my experience, ability to control access to entertainment systems does, so I found this session both informative and entertaining.
Next, the Communication Technology and Computer Access group hosted a session to “share solutions and ignite ideas.” And it did just that! The hour and a half was packed with information about exciting new technologies that people wanted to share. The highlights for me included a platform built of what looked like modern-day erector set, Servocity.com, that would move a Quadjoy mouse into position for someone with quadriplegia; the GlassOuse Assistive Device head mouse that moves the cursor with the movement of your head and clicks by biting on a switch; TobiiDynavox’s communication software now has a dwell free keyboard that works like Swype, allowing the user to type without dwelling on each letter individually; a “face switch” using the regular webcam and using the Xbox sensor; other options for mounts from Octa; adaptations to your power port that will turn it into a USP port, Startech.com, or add the magnetic force to make it easier to attach, magnetic lightening, Geepin.net.
The final presentation of the day was from the United Spinal Association about their advocacy work and we were all encouraged again to contact our representatives. Their website offers more information about their work and the issues facing many people with disabilities including PALS.
Thursday morning began with an excellent presentation about new ideas in access to AAC technologies for people who have minimal movement. Melanie Fried-Oken from Oregon University, Susan Fager from Madonna Rehab and Tom Jakobs from Invotek presented together. They described their work with the brain computer interface they are researching at Oregon University which presents the letter choices in a novel way; on the use of multiple access methods for AT, of interest because this is what so many PALS encounter as the ALS progresses; and finally on the SmartPredictor App which allows caregivers to assist communication by enhancing the word prediction in the users system, so the user is still the primary communicator and the caregiver is providing assistance behind the scenes. Hearing how passionate they are and how collaborative their work is was a great way to start the day!
We then came back together as a large group to address the issues around outcome measures for assistive technology use. This issue is front and center at RESNA as evidence based practice is leading us toward collecting data on users of AT. The barriers to collecting this data as well as the opportunities for collecting relevant information discussed. All of the attendees input was collected and we expect to hear more on this topic soon.
Blue Sky designs then demonstrated their power mounts which will allow the user to position and reposition their AT (computer, communication device, camera, etc…) with an app or a switch. Their designs are in prototype at this time, but the usefulness of this type of mount was evident to all of us right away!
Permobil then demonstrated their app, the Virtual Seating Coach, designed to assist power wheelchair users with implementing and tracking their repositioning goals throughout the day.
The overall mood of the conference was positive and upbeat with true excitement about the innovations people were hearing about and the amazing technology available. There was however an undercurrent of dismay at the inability for the government, universities and insurers to understand the importance of assistive technology. AT is not being paid for, programs are being cut, equipment is being farmed out to the lowest bidder, and education for health professionals is not supported. Despite our concerns over these issues, there is a determination to continue to provide individuals with assistive technology and resources they need to use it.
Dr. Stephen Senderoff was a strong supporter of the ALS Hope Foundation and the MDA/ALS Center of Hope from the very beginning. He was a brilliant research scientist and accomplished musician. Over his 20 year battle with ALS, Stephen managed to put on on many events like "A Concert for Hope" at the Kimmel Center in 2010 for the benefit of the ALS Hope Foundation. We send our condolences to his wife Patricia and his family. He was one of our Courage Heart recipients in 2013 because of his proactive role in the fight against ALS, advocating for PALS and supporting the ALS Hope Foundation while courageously battling ALS himself.
"When a disease is curable, most doctors can administer the cure. When a disease has no cure, no one can cure you. But you can heal. The team led by Dr. Terry Heiman-Patterson at the MDA/ALS Center of Hope are master healers. They heal the incurable, and bring light and hope into a place of frightening darkness."
On Sunday May 15th, the ALS Hope Foundation hosted its 15th Annual Research Update and Awards Luncheon at the Philadelphia Marriott West in West Conshohocken. Approximately 140 people from the ALS Hope Foundation community were in attendance, including PALS, their families, the clinic team, advocates, and supporters.
Our guest speaker wasDr. Wilson Bryan of the Food and Drug Administration (FDA) who gave a very comprehensive presentation entitled "Drug Development: Taking Therapies into the Clinic." Prior to joining the FDA, Dr. Bryan was co-director of the MDA/ALS Clinic at the University of Texas Southwestern Medical School, and he brought this unique perspective to his work.
Watch the video of his presentation here.
Dr. Terry Heiman-Patterson, president of the ALS Hope Foundation, gave an update on the programs at the MDA/ALS Center of Hope, the research coming from the ALS laboratory at Drexel, and collaborations both nationally and internationally.
Dr. Heiman-Patterson then had the honor of recognizing people or organizations who have supported the ALS Hope Foundation throughout the past year. The Sunrise Award was given to Richard "Dick" Dayton for having demonstrated the highest level of commitment to the ALS Hope Foundation by tirelessly supporting its mission and fundraising. The Dayton family held a bowling event, showed up en force to the walk, were on the International Alliance of ALS/MND Associations March of Faces banner and were our Season of Hope ambassadors. Sadly, Mr. Dayton lost his battle with ALS on December 8, 2015. His family still chose to be the face of our Season of Hope despite their loss and we are so beyond grateful for their support over the years. His wife Carroll and many family members were there on his behalf.
The Courageous Heart Award is presented to those who have taken a proactive role in the fight against ALS, advocating for PALS and supporting the ALS Hope Foundation while courageously battling ALS themselves. Our Courageous Heart recipients for 2016 were John Buzby,Gerald DeStefano, Rita Fezzuoglio, Karen Gallimore, Steven Bickley, Todd Kelly, Denise Richards, and William Snyder. We would like to again thank you for everything that you do to keep hope on the horizon! Your courage inspires us to live life to the fullest.
Please read more about their Stories of Hope.
The Community Hope Award was given to two outstanding communities who have shown a commitment to raising awareness and funds. The Media Theatre, Jeff Coon and Ramona and Frank Gywnn for recognized for their outstanding event "The Swingin' Concert for Hope," which raised over $57,000 and won the 2015 Broadway World Philadelphia Award for Best Special Event. The Borough of Brooklawn along with the MacAdams Familyand the Vitola Family received the Community Hope Award, in recognition of their outstanding support and dedication to the ALS Hope Foundation with their Tom MacAdams and Eileen Vitola Run/Walk and new this year, the Great Gatsby Gala. Eileen Vitola lost her battle with ALS on April 29th. Our hearts are with the Vitola family during this difficult time
The Borough of Brooklawn presented the ALS Hope Foundation with a check for $15,000. In three years this little town of 2,000 people has raised $63,000.
We also acknowledged our Horizon Honors awardees, those individuals or organizations who have helped to keep hope on the horizon by contributing or raising over $1,000.
It was truly an inspirational and informative afternoon. We are grateful to have so many wonderful, dedicated supporters behind us. Thank you to our sponsors InFuCare RX, LifeSplice Pharm LLC, and an anonymous donor and to everyone who helped make the luncheon possible!
Please enjoy our guest speaker Dr. Wilson Bryan's presentation from our Annual Research Update and Awards Luncheon on May 15th, "Drug Development :Taking ALS Therapies into the Clinic"
Dr. Bryan is the Director of the Division of Clinical Evaluation and Pharmacology/Toxicology, in the Office of Cellular, Tissue, and Gene Therapies, Center for Biologics Evaluation and Research, FDA.
Video by Robert Patterson
Debbie Andreocci was diagnosed with ALS on September 14, 1995 at Mt. Sinai Hospital in New York. Shortly after, she received a post card about the MDA/ALS Center of Hope at Drexel University and decided to see Dr. Terry Heiman-Patterson. They have been coming to the clinic from Clinton, New Jersey ever since.
Debbie is a fighter. Not only is she a PALS, she is also a breast cancer survivor. She never complains and is always there to help everyone around her. She is famous for her Eggplant Parmesan! Tony says she is the type of person who makes her life look easy. She has two amazing children and two beautiful granddaughters, Mia and Liana.
Tony was inspired by the Ice Bucket Challenge to create his own way to raise ALS Awareness. With his upcoming retirement, Tony decided to put the ALS Hope Foundation logo on his race car and car trailer and pursue his racing career full time. He had previously won the NHRA Division 1 Englishtown Race in 2004.
Debbie and Tony have been married 42 years this upcoming Memorial Day weekend. Tony is going to reveal his car’s new look at the Maple Grove Speedway’s Lucas Oil Drag Racing Series May 26th to May 29th to celebrate his love for Debbie and his dedication to the ALS Hope Foundation. Several of his co-racers will also be sporting the ALS Hope Foundation decal on their cars. The ALS Hope Foundation will be cheering him on Saturday May 28th! Come out and join us.
The Muscular Dystrophy Association teamed up with our clinic in 2001, making this our 15th year as the MDA/ALS Center of Hope. This incredible partnership has been extremely beneficial to PALS and their families. We would like to thank the MDA for being our partner and helping us keep Hope on the Horizon.
The ALS Hope Foundation is a non-profit corporation under section 501(c)(3) of the US Internal Revenue Code EIN 23-3010389
United Way of Greater Philadelphia and Southern New Jersey Donor Choice Number: 13004
ALS Hope Foundation Privacy Policy
Original build by Rachel Patterson
Powered by SquareSpace
