Annual Accomplishments on SMA Research at OSU
A cure is within reach, thanks to the many breakthroughs from the OSU researchers. Through the leadership and
dedication of researcher Dr. Arthur Burghes, the OSU Labs have accomplished the following for Spinal Muscular
- Collaboration in the identification of the missing or deleted SMA gene called SMN or survivor motor neuron.
- Discovery and isolation of the SMA protein or SMN2 which is necessary for muscle strength. In the absence of
or in low levels of SMN2 the bodies muscles weaken and atrophy, sometimes even affecting the muscles which
control breathing and swallowing.
- Development of the DNA blood test to diagnose SMA.
- Development of carrier testing to identify carriers of the missing or deleted SMA gene.
- Gene therapy study started.
- Miracle For Madison fund established through The Ohio State University Foundation account # 301554. Mission:
to help fund SMA research, to coordinate services with Columbus Children’s Hospital, to educate the medical
community about the most up to date standard of care and to provide support to SMA families.
- OSU SMA clinic established under the direction of Dr. Jerry Mendell and Dr. John Kissel- co-directors MDA
clinic and Professors of Neurology OSU.
- Biochemical defect in SMA found to be caused by decreased SMN. The amount of SMN protein or copies of SMN
indicates the severity of the disease.
- Critical breakthrough in the understanding of SMA: OSU SMA Researchers led by Dr. Arthur Burghes, replicated
SMA in mice and then demonstrated that SMA could be corrected/cured by introducing large amounts of the SMN2
- Hundreds of thousands potential compounds are screened using assays developed at OSU to identify which
compounds/drugs could activate the production of the SMN2 protein.
- SMA zebra fish model developed to help with potential therapeutic pathways for an effective treatment.
- Partnership developed with OSU chemists, other related disease researchers and pharmaceutical companies to
develop a safe and effective treatment for SMA.
- OSU SMA carrier mice travel to John Hopkins University for Stem Cell research. Stem cells injected in SMA mice
show positive results toward restoring movement.
- Potential compounds identified and tested in the OSU SMA Mouse and Zebra Fish models.
- Dr. John Kissel joins Project Cure SMA as one of the co-investigators for drug trials. www.ProjectCureSMA.org
- OSU research team joins with NINDS- SMA Therapeutics Development Program to accelerate the process of developing
a safe and effective treatment.
- OSU SMA mice are involved in a gene transfer program with Oxford BioMedica (England) using the LentiVector
carrying the SMN-1 gene.
- Miracle For Madison & Friends becomes one of the founding members of the Spinal Muscular Atrophy Coalition.
The coalition is comprised of non profits from across the country. Their mission is to stand united and work
together in raising awareness and advocating for progress towards a treatment and cure for SMA. A large part
of their work is focused toward increasing federal funding for SMA research and gaining support within NIH.
- SMA is chosen by NIH as a model disease for a pilot project in translational research. SMA is serving as a model
for other neurodegenerative diseases like ALS, Parkinson's and Alzheimer's in their quest for a cure.
- OSU SMA clinic expands to Columbus Children’s Hospital to provide the best care, treatment and services for our
pediatric SMA patients in Ohio and the surrounding states.
- Project Cure SMA Phase 1 clinical drug trial begins at OSU under the direction of Dr. John Kissel with a Natural
- OSU SMA mice injected with the SMN-1 gene, showed improvement in survival and improved motor neuron survival.
(Oxford BioMedica Study)
- SMA Coalition forms “Helping Hands” network so that every congressman, senator and key individuals within NIH
are contacted and know about SMA.
- Phase 2 clinical drug trial with valproic acid and carnitine begins as part of Project Cure SMA. Preliminary
results from the use of these 2 drugs in SMA patients have shown positive results. Some SMA children are
gaining improvement in motor function and strength, even to the point of some standing and walking for the
very first time.
- Within NIH, NICHD joins NINDS to support SMA research and promote awareness. SMA Coalition and “Helping Hands”
network provide the groundwork to make this possible.
- SMA Coalition initiates letter to the Advisory Committee on Heritable Genetic Diseases in Newborns and Children
to advocate for the inclusion of SMA in the Newborn Screening test. The earlier the diagnosis of SMA the better
chance there is of preventing motor neuron damage. This will allow for earlier treatment plans and to help
identify patients to participate in clinical trials.
- Dr. Tom Prior, SMA OSU researcher, is awarded a significant contract from NICHD to refine the SMA diagnostic
test for low cost , high throughput screening which is needed for SMA to be included in the newborn screening
test. Dr. Prior and Dr. Burghes head up a pilot program to screen for SMA in newborns.
- Phase 2 CARNI-VAL Project Cure SMA clinical trial continues to enroll and test patients using the drugs
valproic acid and carnitine.
- Continuation of SMA mice for development and testing purposes by Dr. Burghes.
- Research in understanding how low levels of SMN causes SMA by Dr. Burghes.
- Research to determine when and where high levels of SMN are required to correct SMA by Dr. Burghes.
- Further screening and testing of drug compounds utilizing SMA Zebra Fish model by Dr. Beattie.
- Development of assays to screen newborns for SMA by Dr. Prior.
- Research in the timing of SMA therapeutic intervention by Dr. Chandler at Nationwide Children‘s Hospital.
- Carl Reed visits Capital Hill and meets Ohio members of the Congress and Senate to gain support for federal
funding for SMA research.
- SMA Clinic relocates and opens at Nationwide Children’s Hospital for our pediatric population.
- Phase 2 CARNI-VAL clinical trial completed and results to be published in 2008.
- The VALIANT clinical trial comes to OSU to test the drug valproic acid on adults with SMA. Directed by
Dr. John Kissel.
- Carl Reed visits Washington DC making his way through Capital Hill meeting members of our congress and senate
to introduce and encourage them to support the SMA Treatment Acceleration Act. He also asked them for their
continued support of federal funding for SMA. (April)
- The SMA Treatment Acceleration Act is formally introduced in both the US House of Representatives and the US
- The SMA Treatment Acceleration Act is cosponsored by Ohio US House of Representatives P. Tiberi and D. Price,
along with US Senator S. Brown. Miracle For Madison and Friends and other SMA families nationwide are working
hard to gather more members to sign on. (September)
- Stem cell and gene therapy treatments being studied by Dr. Kaspar at Children’s Research Institute.
- The SMA Summit on Drug Development is chaired by OSU clinican Dr. John Kissel and is sponsored by The Ohio
State University Medical Center, Miracle for Madison & Friends and several other SMA advocacy groups.
- OSU Researchers are currently involved in or contributing to the following SMA drug development projects:
- deCODE genetics Inc: Quinazolines Project
- Paratek Pharmaceuticals: Tetracycline Project
- NINDS: Indoprofen Project
- Pilot Project for SMA newborn screening ready to begin at a few local hospitals.