June 2012 - The ALS Association Greater Sacramento

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Research Update Page 6 Drug Company Working Group Meeting Attracts Professionals from Academia and Industry to Discuss Therapeutic Opportunities for ALS In April, at The American Academy of Neurology Annual Meeting in New Orleans, The ALS Association brought together an overflow crowd of researchers, industry executives, and many others, all with the common purpose of finding new treatments for ALS. The meeting of the ALS Drug Company Working Group organized by the Research and Public Policy Departments of The ALS Association was standing room only, an indication of the broad interest in the research and drug development world in developing treatments for the disease. “Our purpose for the meeting was to encourage those in the field and those thinking of getting into it, to talk with each other, and to share ideas and strategies for fighting ALS. That's what will help us move ahead,” said ALS Association Chief Scientist Lucie Bruijn, Ph.D. The latest news on the trial of antisense therapy against SOD1 was discussed by Frank Bennett, Ph.D., of Isis Pharmaceuticals, which is developing the drug for treatment of familial ALS due to SOD1 mutations. Final results of the trial were then presented the following day by Timothy Miller, M.D., Ph.D., of Washington University in Saint Louis. In this double-blind trial, antisense molecules that bind to SOD1 messenger RNA were injected into the spinal cord in 21 patients. The intent of the treatment is to shut down production of SOD1 and alter the progression of the disease in familial ALS. However, Dr. Bennett said that the trial was meant to establish safety, not test efficacy, and the drug was given only once, rather than multiple times over a prolonged period, as would likely be needed to have an effect on disease progression. Additional studies would be needed to determine the efficacy of this treatment. Drs. Bennett and Miller reported that the trial showed that single doses appeared to be safe with the most important side effects related to the delivery of the drug, not the activity of the drug once inside the spinal cord. Because it is delivered by lumbar puncture (injection into the intrathecal space surrounding the spinal cord), treatment is associated with an increased risk of headaches, nausea, and vomiting. Tests performed on patients showed that the drug achieved the predicted levels in the cerebrospinal cord and in the blood. “This was an important trial for studying the intrathecal delivery of antisense oligonucleotides,” Dr. Bennett said, as it was the first time that the procedure had been performed. Dr. Miller noted that the antisense molecule targets all types of mutations of SOD1, rather than being mutation-specific, which would increase its potential utility if it turns out to be effective. Some evidence suggests that normal SOD1 may be involved in sporadic ALS, and that lowering it may be therapeutic. If so, Dr. Bennett said, antisense therapy may be helpful. He also noted that antisense directed against the C9ORF72 gene may be therapeutic if it is shown that the disease it causes is due to a new toxic substance, rather than the absence of normal protein from the gene. Steve Han, M.D., Ph.D., of Massachusetts General Hospital in Boston, and the Department of Stem Cell and Regenerative Biology at Harvard University, discussed progress toward the development of ALS models using induced pluripotent stem cells (iPS cells) from patients with ALS. In this system, cells are taken from the skin of a patient, grown in a lab dish, and then, by application of a cocktail of growth factors, transformed into iPS cells, which multiply to make many millions of cells. These cells can then be transformed into motor neurons. The value of this system is to rapidly create many identical cells for study in the lab, all of which contain the same genetic mutation that caused the patient's ALS. These cells can be used to learn more about what causes disease and to screen drugs as potential therapies. The lab has developed iPS cell lines with mutations in SOD1, TDP-43and FUS and has begun development of lines with C9ORF72 and the ALS risk factor ataxin-2. FUS (Fused in Sarcoma) is currently a major target of research in the lab. The FUS protein binds RNA, the messenger cells used to translate genes into proteins. It is normally found in the cell's nucleus, but the mutations that cause ALS relocate it to the cytoplasm in the cell's periphery. The more FUS is mislocalized, the earlier the disease begins and the more severe it is, Dr. Han said. Dr. Han is currently comparing cell lines from two different sources with different FUS mutations to understand more about how specific mutations affect neurons. One notable feature in FUS mutants is their effect on so-called stress granules. These structures appear in cells in response to stress and are thought to be part of a protective response. In some FUS mutants, though, these granules, which are in the cytoplasm, appear to be adversely affected by the presence of FUS. Dr. Han is investigating the details of that effect, which may lead to better understanding of how the mutant causes disease in motor neurons. Continued on page 8.
A Father’s Day Tribute I have been sewing since I was 9 and started quilting in my late 20’s. When I saw all the wonderful team T-shirts at the Walk to Defeat ALS, I just knew I needed to make this quilt for the ALS Association in memory of my dad, Herman Whittle. Dad enlisted in the Air Force and served during WWII, Korea, and Vietnam. We were in Japan in the late 50’s, settled in Vacaville, and then Mom and Dad retired in Woodland. Dad was handy with his hands, always fixing, building, or planting something. He could almost wave his hand over the car and fix whatever was broken. Weakness in his hands was the first sign of ALS. He was 76 when diagnosed and lost his battle 3 and 1/2 years later. He kept a cheerful and inventive spirit to the end. The Sacramento ALS chapter was very helpful. All the meetings, speakers, and support were invaluable in dealing with the day to day effects of ALS. Herman was truly one of the good guys, a wonderful person, and the best dad! Our family wants to do what we can to erase this disease from the face of In honor of Herman Whittle (pictured here) Juanice continues to raise funds for The ALS Association, Greater Sacramento Chapter by walking to defeat ALS. Her newest contribution is this beautiful hand made quilt that will be auctioned off at the associations 25th Anniversary “The Summer Soiree” on June 23rd. Thank you for all of your support, Juanice! A Prayer for My Father PAGE 7 Dear Lord, I ask for your guidance As the path ahead is so unclear. As the reality settles in and our hope falters, I ask for you to fill our hearts with faith. Replace our fears with courage and strength So we may surrender to you and your mysteries. While ALS consumes my father’s body I pray that you will protect his spirit. When his legs can no longer carry him And his hands grow still, I pray your love will move him forward. When his voice falters and he can no longer speak, I pray your words will give him strength. And finally, when his time is near And his breath grows shallow, I ask for your mercy and compassion. Please embrace him completely, Encircle him with your truth, Comfort him and bring him to you. God, grant him peace. Written for William John Reuss (Bill) by his daughter Jackie Charonis March 21, 2012
Page 1 and 2: The ALS Association, Greater Sacram
Page 3 and 4: Walk to Defeat Update Page 3 The Wa
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Page 11 and 12: Smooth Operators! VPD Rocking Beard
Page 13 and 14: Lessons (horseback, tennis, golf, s

June 2012 - The ALS Association Greater Sacramento

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