Batten Disease

Accessing the Accelerated Approval Pathway with a Rare Neurologic DiseaseBatten 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)

1Tracy VanHoutan Father of 3 children; 2 affected by Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL)-more commonly known as Batten DiseaseNoah- Age 6, Laine- Age 4 (has fraternal twin, Emily)Board member of the Batten Disease Support and Research Association (BDSRA)

Thank the FDA for holding these hearings and for allowing me to present.

Also founder and director of the Noahs Hope foundation.2What is Batten Disease?Neuronal Ceroid Lipofuscinosis (NCL)Autosomal recessiveUltra Rare - affecting 2-4 births out of 100,00010 different disorders with different defective genesChildren develop normally until onset age, then regressAccumulation of waste material in the brainVision loss, ataxia, seizures, loss of motor functionAlways fatal There is no FDA approved therapy for Batten Disease--Imagine your son being born and developing normally until age 2.5--Imagine one day his speech starts to regress and he begins to forget words that he had once mastered--Imagine your child who once played baseball and soccer no longer being able to hold a bat or kick a ball--Imagine seeing over 100 seizures in 2 years--Imagine your child having no known friends to talk about and never being invited to a classmates birthday party--Imagine your child never being able to hug you and say I love you ever again.--Imagine a disease that slowly takes EVERYTHING from a child.and then takes away the child.--Imagine that this not only happens to one of your children.but that it is beginning to happen to one of your twin daughters as well.--THIS . IS LATE INFANTILE BATTEN DISEASE3

Faces of Batten Disease

TaylorInfantile NCLMary Payton Late Infantile NCLHaydenInfantile NCLJasperLate Infantile NCLAmberJuvenile NCLSaraJuvenile NCLSandyJuvenile NCLBridgetLate Infantile NCLDanielLate Infantile NCLChristianeJuvenile NCL

Now the next 3 pictures should stand out. Amber, Sara and Sandy. Sisters from Illinois who all lost their battle with Juvenile Batten Disease in the last year and a half. Sara and Sandy within 2 days of each other a few months back. As this disease is autosomal recessive, it often strikes more than one child in a family.and in this case every child.

Bridget, Daniel

I would like to take a minute to mention several of the other foundations who we are working hand in hand with to one day find a cure or treatment for Batten Disease.---Noahs Hope, Beyond Batten, Our Promise to Nicholas, Taylors Tale, Nathans Battle, Hope 4 Bridget, Haydens Hope, and Mary Peytons Miricle foundation.

4Diagnosis of Batten Disease?Retinal Exam & MRI only useful if physician recognizes signs of BattenSkin MicroscopyEnzyme LevelsSeattle Childrens Hospital is the only testing lab in USAInfantile and Late Infantile versions onlyGene SequencingMassachusetts General is the only testing lab in USAUniversal Carrier Screen using Next-Gen SequencingBeyond Batten Disease Foundation and National Center for Genome Resources developing inexpensive(