O’DONNELL BILL REQUIRING SCREENINGS FOR CERTAIN DISORDERS AFFECTING INFANTS ADVANCED BY ASSEMBLY PANEL

(TRENTON) – Legislation sponsored by Assemblyman Jason O’Donnell (D-Hudson) requiring infants born in New Jersey be tested for lysosomal storage disorders was approved Thursday by an Assembly committee.

The bill (A-2708) is designated as “Emma’s Law,” after Emma Daniels, who was diagnosed with Krabbe disease several months after her birth. Krabbe disease is a type of lysosomal storage disorder that affects the nervous system and may show up in early infantile, late infantile, juvenile and adult stages. Most of those diagnosed with Krabbe disease suffer from early infantile form, with onset before 6 months of age and death occurring before the age of 2 years. [1]

“In 2011, in the greatest nation in the world, our newborns deserve the best medical care we can provide them,” said O’Donnell. “Krabbe is a devastating disease, and I commend Emma Daniels’ family for being tireless advocates for legislation that will prevent other families from experiencing the pain they have suffered.”

The States of New York and Missouri already screen their newborns for Krabbe, and the state of Illinois will begin this screening in 2012. Successful treatment for this disease depends on how early the disease is detected.

“While there is no cure for lysosomal storage disorders, there is research underway to find reliable cures and treatments. As recently as this past October, new medical methods have been developed that may be applicable to Krabbe’s Disease.[2] It is critical that we detect these disorders as early as possible, to give these children a shot at life,” said O’Donnell.

The bill, based on Illinois law, requires infants born in New Jersey be screened for the lysosomal storage disorders known as Krabbe, Pompe, Gaucher, Fabry, and Niemann-Pick disease, within six months after the following occur:

  • registration with the FDA of the necessary reagents (substances that would enable detection of the disorders);
  • availability of the necessary reagents from the federal Centers for Disease Control and Prevention;
  • availability of quality assurance testing methodology; and
  • acquisition by the Department of Health and Senior Services (DHSS) of the equipment necessary to implement the screening tests

The bill also authorizes the Department of Health and Senior Services to charge a reasonable fee for the testing. The amount of the fee and the procedures for collecting the fee would be determined by the Commissioner of Health and Senior Services.

The bill was released unanimously by the Assembly Health and Senior Services Committee.

###[1] Wenger DA, Rafi A, Luzi P, Datto J, Costantino-Ceccarini E (2000) Krabbe disease: Genetic aspects and progress toward therapy. Mol Genet Metab 70:1-9

[2] Http://www.buffalo.edu/news/12952