The document discusses the role of the Batten Disease Support and Research Association (BDSRA) in supporting research for Batten disease. [1] Batten disease is a rare and fatal childhood neurological disorder. [2] BDSRA funds research, builds relationships between researchers and industry, and ensures the patient voice is heard throughout the drug development process from discovery to post-marketing. [3] BDSRA educates families, advocates for clinical trials, and disseminates information to help advance treatments for Batten disease.

1. Patients, Parents and
Patient Groups
A Rare International
Dialogue
May 10, 2019
Tracy Kirby
Batten Disease Support and Research
Association

2. Batten Disease
Overview
• Ultra rare disease of childhood
• Lysosomal Storage Disorder
• 14 identified forms with CLN1-
14 nomenclature—AKA NCLs
• Autosomal recessive
• Seizures, cognitive decline, loss
of vision, walking, talking and
death far too early

3. How BDSRA
Supports Research
• BDSRA’s research program has
funded registry, animal model,
biospecimen collection and other
major building blocks important to
crosscutting Batten scientific and
drug development progress.
• We work closely with researchers and
industry throughout the drug
development process to ensure the
patient voice is heard.
• When industry works with patient
advocates early and often there is a
higher chance of success for all.

4. BDSRA’s Role During
the Discovery Phase
• Funding research assays,
mutation discoveries, small and
large animal models
• Encouraging researchers, NIH, co-
funders
• Building patient community for
support, education, advocacy,
and awareness
• Developing relationships with
industry, NIH, FDA, CDC, and
Congress

5. BDSRA’s Role
During the Pre-
Clinical Stage
• Help define study inclusion criteria
• Input on meaningful endpoints
• Assistance with informed consent
process
• Educating families about trial
timelines, costs, logistics
• Help with pre IND meetings with
FDA
• Surveys, focus groups from array
of families within disease process

6. BDSRA’s Role During
the Trial Phase
• Input on clinical trial sites
• Advocating for adequate trial
financial needs for families
• Benefit-risk and draft
guideline
• Front-load services for the
families
• Education and supporting
trial participants

7. BDSRA’s Role During
the Regulatory
Review Phase
• Education FDA/EMA and
impacting regulatory
pathway
• Developing strategy for FDA
advisory board meetings,
family encouragement and
prep
• Expectation setting in patient
communities

8. BDSRA’s Role During
the Post Marketing
Activities
• Disseminating results to patient
and clinical communities
• Media inquiries and outreach
• Work on payer reimbursement
with industry and families
• Natural History/Registry feedback
• Newborn screening initiatives
• Refinements and feedback

9. Partnerships are
Imperative
Patients
Researchers/I
ndustry
Funders

11. Thank you!