The National Institutes of Health (NIH) has released funding information for 218 areas during the 2009 fiscal year. The table titled, “Estimates of Funding for Various Diseases, Conditions, and Research Areas,” shows the total funds spent in each category based on grants, contracts, and research conducted in the NIH’s own laboratories and clinics. The 218 categories included in the chart represent diseases, conditions, and research areas historically requested by and reported to Congress and the public at the end of each fiscal year. The NIH website specified that this “does not reflect the entire NIH research portfolio and budget,” that is does not “impact the way the NIH funds research or determines its research priorities”, and “does not change the way the NIH makes awards throughout the year for medical research.”

According to the chart, NIH spent $14 million on spinal muscular atrophy (SMA) research in fiscal year 2009, thanks in part to funding provided by the American Recovery & Reinvestment Act. The chart also estimates that SMA will remain at that funding level in fiscal year 2010.

Click here to view the entire “Estimates of Funding for Various Diseases, Conditions, and Research Areas” table.

From the FDA’s Office of Orphan Products Development and NIH’s Office of Rare Diseases Research:

The Office of Rare Diseases Research at the US National Institutes of Health (NIH), and the Office of Orphan Products Development at the US Food and Drug Administration (FDA), are pleased to announce the 2010 edition of their collaboratively developed course, “The Science of Small Clinical Trials.” This is a broad survey course (not a high-level statistical seminar), which is intended to heighten awareness of the methods that exist to design and analyze clinical trials using small numbers of participants. An inescapable necessity when dealing with rare diseases, the use of small trials is also rising in prominence in the context of tissue transplantation, advanced prosthetics, and individualized pharmacogenomics.

The first edition of the course, offered in 2009, was restricted to FDA and NIH staff. The 2010 edition of the course has been revised (based upon comments from 2009 participants), and is now open to ANYONE who wishes to register. The course comprises 7 2-hour lectures, presented at the Lister Hill Center Auditorium on the NIH campus in Bethesda, MD, from 16 February through 8 March, 2010; the lectures will also be available online via the Internet, live and by delayed on-demand video streaming (using freely available RealPlayer software), allowing anyone with a good Internet connection and appropriate computer to participate (questions from remote attendees will be received via a live text chat room, or via a discussion forum, on a web site dedicated to the course).

ALL participants must register. An optional self-administered open-book On- line examination will be provided at the end of the course, and individuals who pass this examination will receive a certificate from FDA’s Office of Orphan Products Development.

For more information about the course, and online registration, visit: http://small-trials.keenminds.org.

According to the course’s website, “the target audience is professionals interested in drug/device evaluation and regulatory affairs.” Currently, on-site attendance is full, so those wishing to participate must via the internet.

This request comes from Bill and Victoria Strong of the Gwendolyn Strong Foundation and Neda Zadeh, M.D., Medical Genetics Fellow at Stanford University. They are reaching out to mothers of children with spinal muscular atrophy to ask if they would participate in a study that “may help pave the way for SMA carrier screening to be offered to more women.”

From: Neda Zadeh, M.D. — To the Claire Altman Heine Foundation:

You are invited to participate in a research study on the possible association between Nuchal Translucency (NT) measurement and fetuses affected with Spinal Muscular Atrophy (SMA). Our goal is to determine whether there is an association between increased NT measurements and SMA. If so, diagnostic testing for SMA may be offered to women with increased NT and no evidence of a chromosome abnormality of the fetus. We are only recruiting mothers of children confirmed to have SMA by molecular testing.

Involvement in this study is entirely voluntary and confidential. It will require your permission to access particular medical records for both you and your child. Your participation will not involve invasive procedures such as blood draw or tissue sampling. There will be no monetary compensation for your participation.

If you are interested in participating, or would like to hear more about this study, please contact me at (650)721-1439.

Sincerely

Neda Zadeh, M.D.
Medical Genetics Fellow
Stanford University
Division of Medical Genetics

From the Washington Post:

NIH authorizes use of first human embryonic stem cells under new policy

By Rob Stein
Washington Post Staff Writer
Wednesday, December 2, 2009; 1:01 PM

The Obama administration on Wednesday approved the first human embryonic stem cells for experiments by federally funded scientists under a new policy designed to dramatically expand government support for one of the most promising but also most contentious fields of biomedical research.

The National Institutes of Health authorized 11 lines of cells produced by scientists at the Children’s Hospital in Boston and two lines created by researchers at the Rockefeller University in New York. All were obtained from embryos left over by couples seeking treatment for infertility.

“This is a real change in the landscape,” NIH Director Francis Collins said. “This is the first down payment on what is going to be a much longer list . . . that will empower the scientific community to explore the potential of embryonic stem cell research.”

According to Johns Hopkins University Associate Professor of Neurology, Molecular Microbiology and Immunology, Dr. Douglas Kerr, author of multiple papers about embryonic stem cells and friend of FightSMA, “this is a significant event since it has really increased the number of embryonic stem cell lines available for researchers to study in understanding and ultimately treating human diseases.” He goes on to say, “It’s even more significant since the previously approved embryonic stem cell lines had a variety of problems including chromosomal abnormalities and culture conditions that would make them potentially unsafe in humans. These new ES lines don’t have those problems and this promises to advance research forward.”

To read the complete Washington Post article, click here.

To read the press release issued by NIH, click here.

From the press release by Cold Spring Harbor Laboratory:

November 4, 2009

Researchers identify drug candidate for treating spinal muscular atrophy

Cold Spring Harbor, N.Y. – A chemical cousin of the common antibiotic tetracycline might be useful in treating spinal muscular atrophy (SMA), a currently incurable disease that is the leading genetic cause of death in infants. This is the finding of a research collaboration involving Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory (CSHL) and scientists from Paratek Pharmaceuticals and Rosalind Franklin University of Medicine and Science.

SMA is caused by mutations in a gene called Survival of Motor Neuron 1 (SMN1), resulting in a decrease in the levels of SMN protein in the motor neurons of the spinal cord – the cells that control muscle activity. Without the protein, these neurons degenerate, and infants born with the mutations progressively lose the ability to move, swallow, and breathe. There are no approved therapies for the treatment of SMA, which affects approximately 1 in 6,000 babies born in the United States.

The new molecule boosts the levels of SMN protein in cells by fixing a mistake in a cellular processing mechanism called RNA splicing. In a study that will appear in the journal Science Translational Medicine on November 4th, the scientists report this fix in both mouse models of SMA, as well as in cells isolated from SMA patients.

Unlike previously identified molecules that stimulate SMN production, the tetracycline-like compound is a unique therapeutic candidate in that it is a small molecule that specifically alters RNA splicing by directly targeting the splicing reaction.

To read the full press release, click here.

To read the abstract of the study, click here.

Dr. Adrian Krainer is a friend of FightSMA and a regular speaker at FightSMA’s Annual Conference. At the 2009 FightSMA Annual Conference, he spoke on subject of splicing and SMA.

The H1N1 flu has added even more stress to a season that is already very tense for families affected by spinal muscular atrophy (SMA) - cold and flu season. Here are a couple of notes that will hopefully help these families.

Doctors have recommended that SMA patients get both the regular and swine flu shots.

MDA has advised that “the intranasal form (sprayed into the nose)…variety of the vaccine is not recommeded for those affected by neuromuscular disease since it contains an attenuated (weakened) form of the H1N1 virus.”

Dr. Kathy Swoboda, of the University of Utah, has recommended that parents of “fragile children with SMA to get a prescription if possible for tamiflu, to be started at the earliest onset of flu-like symptoms” and that “those vulnerable individuals who are exposed to actively infected family members living within a household should begin treatment as well.” She also recommended that families “consult with your doctor regarding individual specific circumstances.” (For more information, click here. SMASpace membership and login required.)

Additional resources for getting through this flu season:

• CDC’s 2009 H1N1 Flu (Swine Flu)
• Action Steps for Parents of Children at Higher Risk for Flu Complications
• MDA’s H1N1 Resource Center
• Flu.gov
• H1N1 Flu Self-Evaluation
• CDC Says “Take 3” Actions To Fight The Flu

From the National Institutes of Health press release:

NINDS Names Dr. Petra Kaufmann Director of the Office of Clinical Research

The National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, has named Petra Kaufmann, M.D., M.Sc., as director of its Office of Clinical Research.

Dr. Kaufmann is among the foremost experts in the design and management of clinical trials for neuromuscular disorders, including spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and mitochondrial diseases. In her new role, Dr. Kaufmann will lead the Institute’s efforts to increase the effectiveness of clinical studies by addressing issues such as optimal trial design, ethical safe conduct of trials, and challenges in patient enrollment.

“Dr. Kaufmann has experience in all phases of clinical research, from conducting laboratory investigation and studies on disease mechanism to serving in key leadership positions on several major multicenter trials,” said Story C. Landis, Ph.D., director of NINDS. “Dr. Kaufman’s outstanding skills and expertise will allow us to make the most of the scientific opportunities ahead and to have a significant impact on clinical neuroscience.”

Dr. Kaufmann said, “I look forward to supporting excellence in clinical research at NINDS so that the advances in neuroscience can be translated into better treatments for patients.”

To read the full press release, click here.

On August 15th, the University of Wisconsin Pediatric Pulmonary Center is sponsoring a free workshop open to parents, family members, and caregivers of children with spinal muscular atrophy (SMA). For more information, click here to view the original blog post.

But what about families who cannot travel to the workshop? Justin Kuester, a driving force behind the workshop, has been working with Dr. Schroth’s team to see if webconference capabilities could be secured to open up the SMA Education Day to people who cannot attend in person. And, he has been successful!

To access the webconference, visit http://wisc.na4.acrobat.com/sma/ at the time of the workshop. Justin suggests that interested families test the URL early to ensure that their browsers are able to connect and install any plugins as necessary.

By Dr. Alex MacKenzie, Co-Chair of FightSMA’s Scientific Advisory Committee

It is with sadness we note the passing of Dr. Hung Li earlier this year. Dr. Li’s laboratory at Academia Sinica in Taiwan made a number of important and novel observations in the study of spinal muscular atrophy, all the more impressive given his was at a center with no prior record in SMA research. Dr. Li reported the first genetically and pathologically faithful murine model of severe SMA as well as the first report of treatment of these mice with an SMN2 inducing agent, butyrate. Latterly, he made the novel observation of a role for STAT5 kinase activation in the induction of SMN2, one of the first delineations of a mechanism of induction for this locus. As well he explored the role of apoptosis in SMA and reported on Valproate therapy in a small patient cohort.

In addition to his important SMA legacy, Dr. Li published widely on other issues including renal disease and novel therapies for stroke; clearly his was fertile and creative scientific mind. He was a quiet, kindly individual who reached out to a number of us with an invitation to Taiwan to visit his laboratory a number of years ago. A true pioneer in SMA research, he will be missed.

From the National Institutes of Health:

Under the Recovery Act, the NIH has established a new program entitled Research and Research Infrastructure “Grand Opportunities” hereafter called the ”GO” grants program.This new program will support projects that address large, specific biomedical and biobehavioral research endeavors that will benefit from significant 2-year funds without the expectation of continued NIH funding beyond two years.  The research supported by the ”GO” grants program should have high short-term impact, and a high likelihood of enabling growth and investment in biomedical research and development, public health, and health care delivery.

Approximately $200 million dollars will be committed to projects resulting from this request and “only applications with budgets greater than $500,000 total costs per year for a project period of two years are expected to be considered.” This request for applications is expected to be very competitive, but it is also seen as a huge opportunity that is too important for the SMA research community to pass up.

The opening date is April 27th and the application deadline is May 27th. For more information, click here.