Good Afternoon.  Dr. Howell and Members of the Advisory Committee, thank you for the opportunity to testify today.  My name is Spencer Perlman and I am the government affairs director for Families of Spinal Muscular Atrophy, the largest international organization dedicated solely to eradicating Spinal Muscular Atrophy (SMA) by promoting and supporting research, helping families cope with SMA through informational programs and support, and educating the public and professional community about SMA.  I am testifying this afternoon as a representative not just of FSMA but of the entire SMA community, including the Spinal Muscular Atrophy Foundation (SMAF) and Fight SMA, regarding the Committee’s nomination and evaluation process for candidate conditions on the uniform newborn screening panel.

Specifically, I am here to urge the Committee, as it develops a nomination and evaluation process for candidate conditions, to permit the addition of disorders to the universal newborn screening panel that do not presently possess a demonstrated treatment or cure.  The SMA community represents a unified front in strongly urging the Advisory Committee not to preclude an external evidence-review group (ERG) from considering the case for universal newborn screening of a disorder solely due to the lack of a presently available treatment or cure.  The SMA community, and other similarly situated communities, should be allowed to make the case during the nomination and evaluation process without this historical bias.

Newborn screening can play a vital role in the development of a treatment or cure and in improving the quality of life of the infants afflicted by deadly and disabling disorders such as SMA. 

As you know, SMA is the leading genetic killer of children under the age of two.  It is also a relatively common “rare” disorder, occurring in about one of every 6,000 births, with one in 40 people in the general population being carriers of the disease.  Approximately 50 to 70 percent of affected children suffer from Type I SMA, the most severe form.  More than 95 percent of these children die in infancy or require extensive respiratory support by their second birthday.

Newborn screening is an issue of paramount importance to the SMA community; in fact the FSMA website section devoted to newborn screening is one of the most heavily traversed and visited portions.  SMA families, as well as investigators and clinicians within the SMA community, recognize that newborn screening holds great promise in assisting the effort to identify a treatment or cure for this deadly disease.

There have been several exciting breakthroughs in SMA-related research over the past five years.  This research, along with clinical trials now in progress, and drug discovery programs that are moving forward rapidly could benefit from identifying affected individuals at birth and hold tremendous promise in developing a treatment and/or cure for SMA. 

Sixteen leading SMA investigators and clinicians from across the United States and Canada have signed a letter to the Committee expressing their belief that these research efforts will be significantly enhanced if pre-symptomatic SMA-afflicted children can be identified through newborn screening.  I have copies of the letter for each Member of the Committee and I respectfully request that the letter be placed into the record of these proceedings along with my oral testimony.

There are several reasons that SMA research, clinical trials, and drug development can benefit from identifying affected individuals at birth even though no current treatment exists:

• Natural history data indicates only a small opportunity for intervention in the most common and severe form of SMA, Type I.  Dr. Kathryn Swoboda of the University of Utah School of Medicine has found that Type I infants demonstrating normal distal innervation during the pre-symptomatic phase of the disease suffer rapid loss of motor units in the first three months and severe denervation with a loss of more than 95 percent of units by six months of age.
• Preliminary data in human and mice models indicates that pre-symptomatic drug intervention is more effective than post-symptomatic. 
• Pre-symptomatic enrollment into clinical trials may greatly enhance the chance of identifying an effective drug intervention for SMA, particularly for Type I SMA infants.  Clinical trials in symptomatic patients with end-stage denervation and contractures may actually disprove the efficacy of therapies which, when administered early, might truly benefit this population.  Additional studies regarding pre-symptomatic drug intervention can occur only if an adequate population of pre-symptomatic Type I SMA infants is identified for participation in clinical trials.

In addition to the benefit to research, diagnosis of SMA at birth has several other benefits:

• It will allow patients to obtain proactive treatment earlier in the disease progression with regard to nutrition, physical therapy, and respiratory care, which will lead to a better quality of life for SMA-afflicted children, reduce respiratory morbidity, and extend lifespan.
• The natural history of SMA appears to be changing due to more proactive care and improved clinical management.  Earlier intervention through newborn screening could enhance these results further to the benefit of SMA patients. 
• A delay in diagnosis has significant economic and medical consequences.  Identifying SMA-afflicted individuals at birth eliminates the pain and cost of unnecessary testing that otherwise would take place in attempting to diagnose the affected patient.
• Newborn screening will provide parents with earlier genetic counseling before they are likely to have a second affected child, which frequently occurs when diagnosis is delayed.

In addition to the aforementioned items, the case for implementing universal newborn screening for SMA is made more convincing by the fact that the technology currently exists and has been recently updated by Dr. Tom Prior of Ohio State University.  The assay has greater than 95 percent sensitivity and 99 percent specificity.

In conclusion, the SMA community strongly urges the Advisory Committee to state explicitly that the existence of a treatment or cure is not a determinant factor in whether a disorder is eligible for inclusion in the uniform newborn screening panel.  I thank the Committee for the opportunity to testify and I would be happy to answer any questions that you may have.