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Accessing the Accelerated Approval Pathway with a Rare Neurologic Disease Batten Disease June 29-30, 2010 FDA Public Meeting Considerations regarding the review and regulation of articles for treatment of rare diseases Tracy VanHoutan, Board Member of the Batten Disease Support and Research Association (BDSRA)

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Tracy VanHoutan Father of 3 children; 2 affected by Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)-more commonly known as Batten Disease Noah- Age 6, Laine- Age 4 (has fraternal twin, Emily) Board member of the Batten Disease Support and Research Association (BDSRA)

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What is Batten Disease? Neuronal Ceroid Lipofuscinosis (NCL) Autosomal recessive Ultra Rare - affecting 2-4 births out of 100,000 10 different disorders with different defective genes Children develop normally until onset age, then regress Accumulation of waste material in the brain Vision loss, ataxia, seizures, loss of motor function Always fatal There is no FDA approved therapy for Batten Disease

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Faces of Batten Disease Taylor Infantile NCL Mary Payton Late Infantile NCL Hayden Infantile NCL Jasper Late Infantile NCL Amber Juvenile NCL Sara Juvenile NCL Sandy Juvenile NCL Bridget Late Infantile NCL Daniel Late Infantile NCL Christiane Juvenile NCL

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Diagnosis of Batten Disease? Retinal Exam & MRI only useful if physician recognizes signs of Batten Skin Microscopy Enzyme Levels Seattle Childrens Hospital is the only testing lab in USA Infantile and Late Infantile versions only Gene Sequencing Massachusetts General is the only testing lab in USA Universal Carrier Screen using Next-Gen Sequencing Beyond Batten Disease Foundation and National Center for Genome Resources developing inexpensive(