New Compounds for New Compounds for Spinal Muscular Atrophy Spinal Muscular Atrophy Jill Heemskerk, PhD Jill Heemskerk, PhD Office of Translational Research Office of Translational Research National Institute of Neurological Disorders and Stroke National Institute of Neurological Disorders and Stroke CONFIDENTIAL
New Compounds for Spinal Muscular Atrophy. CONFIDENTIAL. Jill Heemskerk, PhD Office of Translational Research National Institute of Neurological Disorders and Stroke. Why NIH Chose SMA for a Drug Development Pilot. Urgent unmet medical need Number one genetic killer of infants - PowerPoint PPT Presentation
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New Compounds for New Compounds for Spinal Muscular AtrophySpinal Muscular Atrophy
Jill Heemskerk, PhDJill Heemskerk, PhDOffice of Translational ResearchOffice of Translational Research
National Institute of Neurological Disorders and StrokeNational Institute of Neurological Disorders and Stroke
Jill Heemskerk, PhDJill Heemskerk, PhDOffice of Translational ResearchOffice of Translational Research
National Institute of Neurological Disorders and StrokeNational Institute of Neurological Disorders and Stroke
CONFIDENTIAL
Why NIH Chose SMA for a Drug Development Pilot
Urgent unmet medical need Urgent unmet medical need • Number one genetic killer of infantsNumber one genetic killer of infants
• Incidence: 1 in 6000 live birthsIncidence: 1 in 6000 live births
• No available treatmentsNo available treatments
Scientific opportunityScientific opportunity• Known cause = loss of SMN1 geneKnown cause = loss of SMN1 gene
• Defined treatment strategy: increase SMN2 Defined treatment strategy: increase SMN2
• Compounds identified that increase SMN2 in vitroCompounds identified that increase SMN2 in vitro
Urgent unmet medical need Urgent unmet medical need • Number one genetic killer of infantsNumber one genetic killer of infants
• Incidence: 1 in 6000 live birthsIncidence: 1 in 6000 live births
• No available treatmentsNo available treatments
Scientific opportunityScientific opportunity• Known cause = loss of SMN1 geneKnown cause = loss of SMN1 gene
• Defined treatment strategy: increase SMN2 Defined treatment strategy: increase SMN2
• Compounds identified that increase SMN2 in vitroCompounds identified that increase SMN2 in vitro
Indoprofen: Starting Point for Medicinal Chemistry
Indoprofen increases SMN protein in vitro:• SMN reporter assay