ALS Research Roundup October 2008

by Margaret Wahl on Wed, 2008-10-01 16:06
Article Highlights:

Updates on research, clinical trials and studies as of September 2008

Scientists create nerve cells from skin cells of woman with ALS

MDA grantee Hiroshi Mitsumoto
MDA grantee Hiroshi Mitsumoto at Columbia University was on the study team that created nerve cells from skin cells.

MDA-supported scientists at Harvard University in Cambridge, Mass., and Columbia University, New York City, have created muscle-controlling nerve cells (also called motor neurons) from the skin cells of a person with ALS.

John Dimos of the Harvard Stem Cell Institute and colleagues published their findings in the Aug. 29 issue of Science. MDA-supported Hiroshi Mitsumoto, who directs the Eleanor and Lou Gehrig MDA/ALS Center at Columbia, was part of the study team.

“Much of the hope invested in patient-specific stem cells is based on the assumption that it will be possible to differentiate [mature] them into disease-relevant cell types,” the study authors say, referring to the process of coaxing a stem cell down a particular developmental path, such as that of a nerve cell.

One goal of such differentiation is the possibility of using such cells to replace the patient’s own, disease-affected cells. Since the replacement cells would come from the patient, the immune system would likely accept them.

Another goal is to study the way in which specific cell types from a disease-affected patient develop, which should provide important insights into the disease process.

The study team collected skin cells from an 82-year-old woman with a familial form of ALS and then “turned back the clock” in these cells, inducing them to become like the cells of embryos, but without the capability of actually forming embryos. After the cells were reprogrammed back to an embryo-like state, the researchers coaxed them to develop into nerve cells.

Other research teams have recently created similar “induced pluripotent stem cells” (iPS), but until now, it wasn’t clear that the process could be accomplished in cells from elderly patients with chronic diseases.

“Our study demonstrates the feasibility of producing large numbers of motor neurons with a patient’s exact genotype [genes], which would be immune-matched to that individual, a long sought-after goal of regenerative medicine,” the study’s authors write. “However, several major challenges must be resolved before cell replacement therapy using iPS technology an become a clinical reality.”

Among these challenges, they say, are ensuring the safety of iPS cells for transplantation into patients, since the current methods used for reprogramming could cause malignancies; and correcting defects, such as genetic errors, that caused the disease in the first place.

Replacing damaged nerve cells involves the additional hurdle of ensuring that the cells go to the right place in the brain or spinal cord and connect to muscle fibers and other nerve cells properly.

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Biomarker study opens across U.S.

A study of biochemical indicators (“biomarkers”) uniquely associated with ALS is now open at sites throughout the United States coordinated at Massachusetts General Hospital in Boston. The investigators are seeking adults with ALS, suspected ALS, or neurological diseases other than ALS, as well as healthy adults. Participants will be asked to give blood and spinal fluid samples and meet study criteria. Contact Daniela Grasso at (617) 726- 0842, (877) 458-0631 (toll-free) or

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UC Irvine professor seeks people who may have rare muscle and bone disorder

Virginia Kimonis, an investigator at the University of California-Irvine, is conducting a study of people with muscle weakness, abnormal clumps called inclusion bodies in a muscle biopsy, and either bone pain with susceptibility to fractures or mental deterioration. This combination, while sometimes diagnosed as possible ALS, may indicate a disorder caused by mutations in the VCP gene. Contact Kimonis at (714) 456-5791, (949) 824-0571 or

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MDA/ALS Centers to help ALS TDI identify ALS ‘signature’

Blood and tissue samples will be collected from people with ALS who are seen at three of MDA’s specialized ALS Centers, as part of a collaborative effort between MDA and the ALS Therapy Development Institute (ALS TDI) of Cambridge, Mass.

ALS TDI scientists are planning to identify biological indicators (biomarkers) of disease progression that constitute a molecular “signature” of ALS. The biomarkers will help with disease diagnosis and monitoring and also may provide new targets for experimental treatments.

Scientists at the MDA-supported ALS Therapy Development Institute
Scientists at the MDA-supported ALS Therapy Development Institute are working to identify markers of disease progression in ALS.

Partnering with the ALS TDI to collect blood samples and, eventually, samples of muscle and fatty tissue for analysis are the MDA/ALS Centers at Methodist Neurological Institute in Houston; the University of California-Irvine in Orange, Calif.; and Mount Sinai Hospital and Medical Center in New York.

Several hundred blood samples have already arrived at the Institute and are being processed, and additional centers are expected to become part of the process.

The effort is part of a three-year, $18-million funding and scientific collaboration between the ALS TDI and MDA, through its Augie’s Quest initiative.

For information about blood or tissue donation, contact Beth Levine, senior associate scientist and project manager at the ALS TDI, at or (617) 441-7200.

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ALS to be a major focus in new MDA Clinical Research Network

MDA has committed $1 million per year in funding and selected 10 elite U.S. centers and clinics to become part of a new MDA Clinical Research Network. Five of the centers will work together to support trials and studies of ALS, and five will focus on Duchenne muscular dystrophy.

Disease-specific groups in the network will conduct projects and studies designed to enhance disease understanding. Goals include the development and implementation of studies that will lead to standardized clinical care; development of outcome measures to be used in clinical studies and trials; and development and testing of new treatments.

Centers will participate in large-scale activities, such as patient registries, and principal investigators (researchers) will participate in shared network projects and propose new projects.

The MDA/ALS centers, along with physicians who will be principal investigators, are California Pacific Medical Center in San Francisco, under Robert Miller; Columbia University in New York, under Hiroshi Mitsumoto; Emory University in Atlanta, under Jonathan Glass; Massachusetts General, under Merit Cudkowicz; and Methodist Hospital in Houston, under Stanley Appel.

Each center will receive $100,000 per year from MDA to cover infrastructure costs, and each will submit applications for grants from MDA and other agencies such as the National Institutes of Health (NIH).

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Sangamo BioSciences to test compound that boosts VEGF A protein

Sangamo BioSciences of Richmond, Calif., has announced the opening of a trial of its experimental compound SB509 in adults with ALS who have adequate respiratory function, who have had ALS symptoms for fewer than three years, and who meet other study criteria. SB509 targets the gene for vascular endothelial growth factor A (VEGF A) and is designed to increase production of VEGF A protein. Laboratory studies have suggested this protein may protect and repair damaged nerve and muscle cells. The compound will be given by intramuscular injection. Contact Luci Barbi at the La Jolla, Calif., site at (858) 455-5463 or Additional sites in California, Kansas and Maryland are expected to open soon.

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Clinical Trials and Studies are on the Web

For details about clinical trials and studies, see

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Margaret Wahl
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