Accessing the Accelerated Approval Pathway with a Rare Neurologic Disease Batten Disease June 29-30,...
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- Slide 1
- 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)
- Slide 2
- 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)
- Slide 3
- 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
- Slide 4
- 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
- Slide 5
- 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(