Pediatric Rare Disease Group Works To Advance Clinical Research Bill

August 25, 2012

FDA Week | August 23, 2012 | By Nanci Bompey

Bipartisan legislation aimed at expanding the National Institutes of Health’s investments in pediatric research through the creation of pediatric research consortia could work with newly enacted provisions in the FDA Safety and Innovation Act aimed at accelerating drug approvals, according to an advocacy group spearheading the effort. FightSMA, the group backing the legislation, is pushing for the House Energy and Commerce Committee to take up the bill when it returns from August recess.

The National Pediatric Research Network Act, introduced by Reps. Cathy McMorris Rodgers (R-WA) and Lois Capps (D-CA), directs NIH to establish a National Pediatric Research Network consisting of up to 20 pediatric research consortia over a five year period that would be eligible for awards, including grants, for basic, clinical, behavioral or translational research to meet unmet pediatric population needs, including rare diseases.

The legislation is aimed at improving clinical trials to quickly move promising drugs to approval, said Steven Eichenauer, a partner at Public Strategies Washington, who is working with FightSMA to pass the legislation.

Eichenauer added the bill would bolster research that could utilize the recently expanded accelerated approval pathway, a provision in FDASIA. He said the National Pediatric Research Network Act would help put drugs in the pipeline that can then be sent to FDA for approval, providing “a supply of newly minted therapies that have shown promise in clinical trials and are now before FDA.”

The bill would ensure these consortia focus on conducting or coordinating multisite clinical trials for pediatric rare diseases, and would establish a data coordinating center to distribute the findings, including to FDA. The consortia would be modeled after the National Cancer Institute centers and would ensure funds are dedicated exclusively towards basic and translational pediatric research and would enable inter-institutional networking, according to FightSMA. The group works to accelerate the search for a treatment and cure for spinal muscular atrophy (SMA), the leading inherited cause of infant death, according to the group.

Martha Slay, co-founder of FightSMA, said the group decided to take a broader approach with the currently introduced legislation than it has in past efforts, which focused specifically on spinal muscular atrophy.

“I consider this a really historic moment for SMA and other pediatric rare diseases, going from obscurity to a place where something significant and material could be done to make clinical trials available to children who desperately need it,” she said.

Reps. Diana DeGette (D-CO), Gregg Harper (R-MS) and Peter King (R-NY) are cosponsors and a companion bill in the Senate was introduced by Sens. Sherrod Brown (D-OH) and Roger Wicker (R-MS), and is co-sponsored by Sens. Sheldon Whitehouse (D-RI), John Kerry (D-MA), Richard Blumenthal (D-CT) and Mark Begich (D-AK).

Eichenauer said the group is pressing for consideration of the bill by the House Energy and Commerce Committee when lawmakers return to Washington in September as several sponsors sit on the panel. He said committee staff have been involved in writing the legislation and it has been vetted by the committee. “The committee knows the bill well,” he said. Further, FightSMA said House Majority Leader Eric Cantor (R-VA) is a longtime supporter of their cause.

Eichenauer said the group hopes the House could approve the legislation on the suspension calendar and then the bill could come before the Senate. Some cosponsors of the bill also sit on the Senate health committee, which FightSMA has also been working with on the legislation. Eichenauer added the group doesn’t know if the bill will move on its own or will be attached to a bigger package. Sources have said moving any legislation before the elections could be difficult.

Eichenauer said sponsors of the measure are exploring the possibility of a score from the Congressional Budget Office, but said it would not affect FightSMA’s ability to move forward with the bill. The legislation could also face difficulty with the looming “fiscal cliff.”

“There is no question that federal funding is going to be a challenge now and in the coming fiscal year,” Eichenauer said. “One of the chief advantages (of the bill), is that it does use federal dollars in a more highly-leveraged way. It takes infrastructure that is already there and expands it to leverage those dollars smartly.”

FightSMA is working over the recess to gather support in Congress and among other groups, with the Coalition for Pediatric Research, the National Down Syndrome Society and the Parent Project Muscular Dystrophy endorsing the bill. Eichenauer said sponsors have discussed reaching out to other groups, including the National Organization for Rare Disorders.


Gwendolyn Strong Foundation and Santa Barbara Wealth Management Firm Join Forces to Raise Funds and Awareness for Spinal Muscular Atrophy Research

August 22, 2012

Press Release | August 22, 2012

Mission Wealth Management, LLC aims to raise $10,000 towards research for a cure for spinal muscular atrophy (SMA) with the Gwendolyn Strong Foundation ( at the Santa Barbara International Marathon on November 10, 2012.

SMA is the number one genetic killer of infants and young children. Currently, there is no treatment and no cure to help children suffering from this degenerative disease which hinders their ability to walk, stand, eat, speak, breathe, and swallow.

In fact, the National Institute of Health (NIH) has identified SMA as a “model disease” because any advance in SMA genetic research has the potential to directly impact the treatment or cure of more than 600 other diseases, including muscular dystrophy, Parkinson’s disease and Alzheimer’s disease.

Mission Wealth Management is joining Team GSF and their clients, the Strong family, to help raise money for research towards a cure. “In working with the Strong family with their personal financial planning, we became aware of their mission with the Gwendolyn Strong Foundation,” said Seth Streeter, Co-Founder and President of Mission Wealth Management, LLC. “We were so moved by their tremendous passion and commitment that we wanted to show our support by participating in the upcoming Santa Barbara International Marathon to help raise funds and awareness for this most worthy cause. We invite the whole community to join us in what will be a very special day.”

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Low oxygen levels may decrease life-saving protein in spinal muscular atrophy

August 21, 2012

MedicalXpress (in Genetics) | August 21, 2012

Investigators at Nationwide Children’s Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics.

SMA is a progressive neurodegenerative disease that causes muscle damage and weakness leading to death. Respiratory support is one of the most common treatment options for severe SMA patients since respiratory deficiencies increase as the disease progresses. Clinicians have found that successful oxygen support can allow patients with severe SMA to live longer. However, the biological relationship between SMA symptoms and low oxygen levels isn’t clear.

To better understand this relationship, investigators at Nationwide Children’s Hospital examined gene expression within a mouse model of severe SMA. “We questioned whether low levels of oxygen linked to biological stress is a component of SMA disease progression and whether these low oxygen levels could influence how the SMN2 gene is spliced,” says Dawn Chandler, PhD, principal investigator in the Center for Childhood Cancer and Blood Diseases at The Research Institute at Nationwide Children’s Hospital.

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Taunton girl battles spinal muscular atrophy

August 18, 2012

Taunton Daily Gazette | July 30, 2012 | By Marc Larocque

About 11 months ago, Ashleigh Jacques was born to a Taunton family, appearing to be a happy and healthy baby.

But at three months old, her parents noticed frightening signs that something was terribly wrong with their daughter. She couldn’t move.

“We were all concerned,” said Ashleigh’s mother, Kristen Jacques, a social worker who lives in East Taunton. “She wasn’t moving at all. She wasn’t rolling over. She couldn’t lift her head. She had a hard time with her hands.”

Three months later, Ashleigh was diagnosed with Type 1 spinal muscular atrophy (SMA), the most severe form of the motor neuron disease. Doctors have given the baby a life expectancy of just two years.

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Win One for FDR — and the Wheelchair Warrior in Your Life

July 26, 2012

Huffington Post | July 24, 2012 | By Don C. Reed

One recent night in Washington D.C., I saw two statues of Franklin Delano Roosevelt: one was huge, capturing the outsized spirit of the man, a green-bronze cape sweeping around him. The second was more accurately life-sized, showing a small wheelchair (then made of wood) so that you realized what the man had to endure, as he fought to lead America.

Both statues were accurate.

Franklin Delano Roosevelt was America’s only paralyzed president. He lost the ability to control his lower body due to polio, and stayed paralyzed till the day he died.

But he also performed heroically, accomplishing perhaps more than any able-bodied president in our history.

Through the crushing darkness of the Great Depression, FDR and the Democratic party wove America a safety net.

Social Security: different sections which attempted to protect the old, the poor, the sick and the unemployed ;

Securities Exchange Commission to regulate the uncaring greed and cruelty of Wall Street;

The Tennessee Valley Authority, which converted devastating floods to useful hydro-electricity;

These and much more were all made possible by that man in the wheelchair.

I propose we honor FDR– or another wheelchair warrior in your life.

There are roughly 3.3 million Americans in chairs, so chances are you know someone on wheels.

For me, it’s easy. I have numerous wheelchair warrior heroes. Christopher Reeve, of course, the paralyzed Superman who made it seem so natural to take on a medical condition incurable since the dawn of man.

And people you might not know, like Karen Miner and Fran Lopes, who for almost two decades have work quietly behind the scenes to raise money for research for cure.

But my personal pick is my son, Roman Reed.

The first night after his college football accident, when he was lying in bed with his athletic career suddenly ended — he asked for a banner to be made, to hang over his bed, reading: “I CAN, I WILL, I SHALL!”

That’s Roman, and he is still the same today. In the 17 years since his neck was broken, he has never wavered, never ceased believing in the possibility of cure. He looks beyond the confines of his own self, so that the struggle of a little girl named Gwendolyn Strong, paralyzed from Spinal Muscular Atrophy, is immediate and vital to him. He knows we are in this fight together, to win or lose.

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FightSMA Announces Introduction in the House of Representatives of the National Pediatric Research Network Act (NPRNA)

July 21, 2012

FightSMA Announces Introduction in the House of Representatives of the National Pediatric Research Network Act (NPRNA)

Press Release | July 20, 2012

ALEXANDRIA, VA. July 20, 2012—A bill to authorize the National Institutes of Health (NIH) to support the creation of up to 20 pediatric research consortia focused on diseases such as spinal muscular atrophy (SMA) was introduced yesterday in the U.S. House of Representatives.

The bipartisan bill, called the National Pediatric Research Network Act (NPRNA) is being introduced by Representatives Cathy McMorris Rodgers (R-WA) and Lois Capps (D-CA). It is designed in part to help achieve the goal of securing additional federal resources to accelerate clinical trials for spinal muscular atrophy (SMA).

“We are thrilled about this bill which is the result of the dedication of so many in the SMA community,” said Martha Slay, founder and immediate past president of FightSMA. “Legislation to benefit SMA is at the heart of the FightSMA mission.”

“Over the past year, FightSMA has worked with our champions in the Congress, Representatives McMorris Rodgers and Lois Capps, on this important legislation. With the support of longtime FightSMA ally House Majority Leader Eric Cantor (R-VA), these two key members of the House Energy and Commerce Committee’s Subcommittee on Health have collaborated to craft bipartisan legislation that will advance translational research and clinical trials for a variety of rare pediatric disorders, with SMA serving as a model disease,” said Ms. Slay.

“I am proud to join Rep. Capps in introducing the very important National Pediatric Research Network Act. She has been an instrumental leader in the fight to promote pediatric research for genetic disorders, especially spinal muscular atrophy and Down syndrome,” said Rep. McMorris Rodgers. “As the mother of a son with Down syndrome, I am confident this legislation will go a long way to improving the lives of those with genetic disorders. I look forward to working in a bipartisan way to make sure this bill is signed into law.”

“I am proud to co-author this legislation with my friend (Rep.) Cathy McMorris Rodgers, which would go a long way to increasing and improving research on children’s illnesses–especially rare and complex diseases–and developing new treatments to fight them,” said Congresswoman Capps. “Every parent’s worst fear is that their child becomes sick, and we owe it to all parents to do what we can to fight childhood illnesses. I would also like to thank my constituents, Bill and Victoria Strong, for their tireless work on behalf of their daughter, Gwendolyn, and all children with Spinal Muscular Atrophy and other rare diseases. Their dedication to fighting this terrible disease has been an inspiration for me and a driving force behind this bill,” said Congresswoman Capps.

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With a cure in sight, Alyssa plans annual ‘Working on Walking’ fund-raisers

July 19, 2012

With a cure in sight, Alyssa plans annual ‘Working on Walking’ fund-raisers

The Valley Breeze | July 18, 2012 | By Meghan Kavanaugh

CUMBERLAND – It has been just over a decade since 10-year-old Alyssa Silva began designing greeting cards to raise research money for spinal muscular atrophy, a genetic disorder that causes her spinal nerve cells to degenerate, leaving her wheelchair bound.

Eleven years later, the 21-year-old Bryant University senior and dean’s list regular has raised approximately $70,000.

And she said scientists may be within five years of finding a cure.

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New method enables sequencing of fetal genomes using only maternal blood sample

July 18, 2012

New method enables sequencing of fetal genomes using only maternal blood sample

Stanford School of Medicine | July 4, 2012 | By Krista Conger

Researchers at Stanford University have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

The findings from the new approach, published July 4 in Nature, are related to research that was reported a month ago from the University of Washington. That research used a technique previously developed at Stanford to sequence a fetal genome using a blood sample from the mother, plus DNA samples from both the mother and father.

The whole genome sequencing in the new Stanford study, however, did not require DNA from the father — a significant advantage when a child’s true paternity may not be known (a situation estimated to affect as many as one in 10 births in this country) or the father may be unavailable or unwilling to provide a sample. The technique brings fetal genetic testing one step closer to routine clinical use.

“We’re interested in identifying conditions that can be treated before birth, or immediately after,” said Stephen Quake, PhD, the Lee Otterson Professor in the School of Engineering and professor of bioengineering and of applied physics. “Without such diagnoses, newborns with treatable metabolic or immune system disorders suffer until their symptoms become noticeable and the causes determined.” Quake is the senior author of the research. Former graduate student H. Christina Fan, PhD, now a senior scientist at ImmuMetrix, and current graduate student Wei Gu are co-first authors of the article.

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Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

July 16, 2012

Gene Therapy Treatment Extends Lives of Mice With Fatal Disease

A team of University of Missouri researchers has found that introducing a missing gene into the central nervous system could help extend the lives of patients with Spinal Muscular Atrophy (SMA) — the leading genetic cause of infantile death in the world.

SMA is a rare genetic disease that is inherited by one in 6,000 children who often die young because there is no cure. Children who inherit SMA are missing a gene that produces a protein which directs nerves in the spine to give commands to muscles.

The MU team, led by Christian Lorson, professor in the Department of Veterinary Pathobiology and the Department of Molecular Microbiology and Immunology, introduced the missing gene into mice born with SMA through two different methods: intravenously and directly into the mice’s central nervous systems. While both methods were effective in extending the lives of the mice, Lorson found that introducing the missing gene directly into the central nervous system extended the lives of the mice longer.

“Typically, mice born with SMA only live five or six days, but by introducing the missing SMN gene into the mice’s central nervous systems, we were able to extend their lives 10-25 days longer than SMA mice who go untreated,” said Lorson, who works in the MU Bond Life Sciences Center and the College of Veterinary Medicine. “While this system is still not perfect, what our study did show is that the direct administration of the missing gene into the central nervous system provides some degree of rescue and a profound extension of survival.”

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Research suggests new cause to blame for spinal muscular atrophy

July 10, 2012

Research suggests new cause to blame for spinal muscular atrophy | June 21, 2012

Over 15 years ago, researchers linked a defect in a gene called survival motor neuron — or SMN — with the fatal disease spinal muscular atrophy. Because SMN had a role in assembling the intracellular machinery that processes genetic material, it was assumed that faulty processing was to blame.

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