SMA Coalition Testifies Before Congress 5-17-06!

As a direct result of the SMA Coalition’s ongoing efforts to raise awareness of SMA in Congress, Loren Eng of the SMA Foundation, member of the SMA Coalition, was asked to testify before the U.S. Senate, Labor/HHS/Education Appropriations Subcommittee, Chaired by Senator Arlen Specter and Ranking Member Tom Harkin, on the proposed budget for the National lnstitutes of Health (NIH) and the impact on the innovative SMA Project (www.smaproject.org) being conducted by the NINDS.  The following is text Loren’s testimony on behalf of the SMA Coalition:

TESTIMONY OF LOREN A. ENG
President
SMA Foundation
On Behalf of the
SPINAL MUSCULAR ATROPHY
COALITION

 Presented to the

SUBCOMMITTEE ON LABOR, HEALTH & HUMAN SERVICES, AND EDUCATION, AND RELATED AGENCIES COMMITTEE ON APPROPRIATIONS UNITED STATES SENATE

 MAY 19, 2006

I am Loren Eng, president of the SMA foundation and am here on behalf of the SMA Coalition.  Most importantly, I am the mother of Arya Singh, who is one of the 30,000 children in America dying from Spinal Muscular Atrophy.

As you may know, SMA is a terrible disease.  It is the most common genetic killer of babies and young children in America, and it is untreatable and fatal.  It is often described as a genetic version of polio, or the children’s equivalent of ALS.  In children with SMA, one missing gene, and one missing protein causes motor neurons to die.  Muscles weaken and wither away, leaving the bright minds of its young victims trapped by their failing bodies.  Most children with SMA die within the first few years of life.  Some are ‘lucky’ and live longer, but face extreme disability and suffering.

But there are many terrible diseases.  What makes SMA remarkable is the ability to truly make a difference with a modest amount of money and smart strategy.

SMA is a poster child for both the problem and the opportunity of drug development for rare pediatric diseases.

For large diseases, the historical focus on basic science works well – large drug companies take that basic science and translate it into treatments that save lives.

However, half of Americans with illness have smaller diseases, and for them the system has not worked.  Breakthroughs are often achieved in basic science, but there are no large drug companies waiting to turn those breakthroughs into treatments.  For a handful of smaller diseases, drug companies will only get involved at later stages where perceived risk is lower.   But for most small diseases, the basic science is wasted because of the challenges of advances research from the bench to the bedside. This is especially true for rare pediatric diseases. Money is spent, but children still die.

In the past decade, scientists studying SMA have achieved incredible breakthroughs, creating a unique opportunity to develop treatments.  To its credit, NINDS has recognized the opportunity and taken steps to advance basic science with a revolutionary translational research effort.

Just three years ago, the NINDS designated SMA, from among 600 diseases, as the best candidate for a model new program to translate basic science into actual drugs and treatments.  The SMA Project combined academic and industry expertise, and was a focused and strategic effort to translate remarkable science into real solutions.

In just three years, and for less than $5 million per year, the SMA Project has brought us within reach of an effective treatment.  Investigators have identified a group of potential drugs that may slow the progression of the disease.  Despite a miniscule budget for the project, NINDS has made incredible strides in harnessing the community’s efforts toward a near term treatment.

Unfortunately, running a brilliant race is useless if you stop before the finish line, and that is what we fear is at risk of happening.

I am not an expert in the federal budget but I do know that…

• …this model SMA program would never have been initiated under this budget
• …the existing funding of just $5m a year is at risk
• …And the very success of the program is at risk

The next phase of the project is pre-IND studies but there is only enough funding to study JUST one compound. Project scientists say we need at least two to three, and each costs $2 million.  For clinical trials we will need $10 to $15 million each.

The leadership of the NIH has been a catalyst of incredible progress—it expects to advance research to a point when they can be ‘handed off’ to drug companies to fully develop.  For a fraction of the vast amounts spent on caring for SMA victims, we could develop treatments that would save them.  With a modest amount of money and continued focus, we can save lives, AND money.

And if NIH can not provide for these critical next steps, it will have a domino effect elsewhere:

• Young investigators will not focus on SMA
• Existing non-government research will stall
• Industry will surely not engage
• And other diseases like ALS and DMD will not reap the benefits of SMA research

The SMA Project has been a revolutionary effort and a shining example of how NIH can not only fund basic research but actually DEVELOP TREATMENTS for deadly diseases.  

Through a solution driven approach, the NIH has achieved in three years what might have taken a decade.  ‘Smart investment’ could pay off in treatments that save lives.  This is an incredible example of finding solutions, not just spending money. Of course, in this case, a ‘solution’ means treatment that could save the lives and reduce the suffering of 30,000 children.

We urge you not to stop short now when we are so close.  Reducing funding for NIH, and for projects like the SMA Project will have devastating consequences—we will waste the enormous amounts of money that have been spent and progress that has been made.  For our daughter, it could mean the difference between life and death.