Carolyn Tomberlin presents information about the NFXF Biobank(tm) and the Collaborative Biomarker Project at the 16th NFXF International Fragile X Conference. The NFXF Biobank(TM) is a cutting edge project that aims to facilitate and expedite FX research through the creation of NFXF Research Ready Materials(TM). Research Ready Materials are the combination of biological specimens and clinical/phenotype data from the same anonymous donors/participants. Each pair (specimen + data) are housed and linked together in the NFXF Biobank, managed by and located at UC Davis. The Research Ready Materials(TM) will allow researchers better and simplified access to what they need while making it easier for participants since a one-time specimen/data donation can be use multiple times across multiple research projects.

1. © 2018 NFXF
All rights reserved.
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NFXF BIOBANK™
NFXF Collaborative
Biomarker Research Project
NFXF Conference
Saturday, July 14, 2018
10:00 -11:15

2. © 2018 NFXF
All rights reserved.
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WELCOME
• Who am I?
• Who are you?
• Why are we here?
• What is a biobank?
• What is the NFXF Biobank™?
• How will it impact Fragile X Research?
• What the Status?
• How can you help?
2
?
??
? ??

3. Carolyn Krull Tomberlin
Problems Solver
•CAREER:
• Foreign language
• Chemical Engineering
• Intellectual Property Management
• Business Model Development – Creative Problem solving for complex
transactions for monetization
• Valuation – identifying High value items and determining market worth
• Consultant -for creating business strategies for win/win solutions
• Educator
•HOME: 22 years of raising 2 amazing FX young men
•NFXF: Board of Directors since 2015

4. Who are you?

5. © 2018 NFXF
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The Problem/Challenge
5

6. © 2018 NFXF
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Since 2013-14
Failed/Ended Clinical Trials
•Outcome Measures
•Objective vs Subjective
•Biomarkers
6

7. “An outcome measure is the
result of a test that is used to
objectively determine the baseline
function of a patient at the
beginning of treatment. Once
treatment has commenced, the
same instrument can be used to
determine progress and treatment
efficacy…”
Reference:
https://www.physiopedia.com/Outcome_Measures

8. Target is “Concrete” like
Size or Weight

9. Anxiety
Hyperactivity
Memory
IQ
Increased function
Anger/Aggression
Others…
Target is Squishy like….

10. “Concrete” versus “Squishy”

11. bi·o·mark·er
[ˈbīōˌmärkər]
Noun
biomarkers (plural noun)
•a measurable substance in an organism
whose presence is indicative of some
phenomenon such as disease, infection, or
environmental exposure.
Reference: Bing dictionary

13. BIOMARKERS
• Anxiety
• Hyperactivity
• Memory
• IQ
• Increased function
• Anger
• Others…
Example Targets for Fragile X

14. © 2018 NFXF
All rights reserved.
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The Problem
Failed/Ended Clinical Trials
•Outcome Measures
•Subjective vs Objective
•Biomarkers
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15. © 2018 NFXF
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An Idea
15

16. Dr. Randi
Hagerman
Dr. Elizabeth
Berry-Kravis
Dr. Nicole
Tartaglia

17. Dr. Randi
Hagerman
Dr. Elizabeth
Berry-Kravis
Dr. Nicole
Tartaglia
CDC- FORWARD PART C
PHENOTYPE/CLINICAL DATA
???

18. What????
Lost in Translation………

26. © 2018 NFXF
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A Solution
26

27. What is a biobank?

28. bi·o·bank
(ˈbīōˌbaNGk)
Noun
•a large collection of biological or medical
data and tissue samples, amassed for
research purposes
Reference: Google dictionary

29. Powder
Drink
Packets
Powder
Drink
Packets
Powder
Drink
Packets
Blood, Tissues, Biological Samples
Biological Data, Medical Data,

30. What is the
NFXF Biobank™?

31. Powder
Drink
Packets
Powder
Drink
Packets
Energy
Drink
Packets
FORWARD PART C
Clinical Data
Medical Data

32. NFXF Research Ready Materials™
+Energy
Drink
Packets
Molecular
Characteriz
ation
+ =

33. © 2018 NFXF
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NFXF Biobank Structure
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Uni. Of
Colorado
Dr. Nicole
Tartaglia
RUSH
Dr. Elisabeth
Berry-Kravis
UC Davis
MIND
Dr. Randi
Hagerman
NFXF
$
$
$
$
$ NFXF is paying out for
work being done at each
location
1. Biological Samples
2. Standardized Consent
Form (HIPPA + IRB)
3. Links to Clinical Data
=
=
B
B
=
1. Receive Samples
2. Process Samples into
components
3. Molecular
Characterization
4. Storage of samples &
components
Cincinnati
Children’s
Dr. Craig
Erickson
NFXF
Biobank™
UCDAVIS MIND
Dr. Flora Tassone $

34. © 2018 NFXF
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Collaborative Biomarker Research Program
NFXF
Biobank™
Dead
END ?
CBR
Scientific
Governance
Project
2
Project
3
New
Project
RFP
Idea
Project
1

35. cell line
[cell line]
NOUN
biology
“a cell culture developed from a single cell and
therefore consisting of cells with a uniform
genetic makeup.”
Reference: Bing dictionary

36. © 2018 NFXF
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NFXF CBR Program
BUILD
NFXF
Biobank™
EXPAND
Participation &
Scope of Work
COORDINATE
Research
Projects
Creation of NFXF
Research Ready
Materials™
Populate with the
most current
research targets
Determine best use
with input from
trusted FX scientists
& clinicians
((←( )→))
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37. © 2018 NFXF
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Next Steps and Early Opportunity
1. “Seaside” samples have been received
• ~3250 samples need sorting and organizing
• Working to reunite with the clinical data
2. Support Video and Prep package for Giving Blood
• Tracy and Mouse will help develop
3. Research Ready Materials™ :
• Increase quantity per year collected at each sight
• Include more clinics in collection of data/samples
• Create cell-lines
• Expand beyond FXS to FXTAS, FXPOI
4. Work with Pharma to determine their needs and
opportunities
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38. © 2018 NFXF
All rights reserved.
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How will the NFXF Biobank™ impact
Fragile X Research?
• One –Stop Shopping
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39. © 2018 NFXF
All rights reserved.
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How can you help the NFXF
Biobank™
DONATE:
• Blood
• Participants in FORWARD PART C: Sign NFXF
Biobank™ consent forms
• “Spend Money to Make money”!
• ~$130K to create Research Ready Materials™
(qty 90/year) under current scope
• Seaside project costs being quantified
• Optional per/patient donation
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40. © 2018 NFXF
All rights reserved.
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Special Thanks to Collaboration from:
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• NFXF Board Members & Staff
• Dr. Stephanie Sherman, Board
• Dr. Brenda Finucane, Board
• Robbie Miller, Staff
• Linda Sorensen, Staff
• Brian Silver,Board
NFXF Biobank Physical Housing &
Management
• UC Davis MIND Institute
• Dr. Flora Tassone, Biobank PI
• Michele Ono, Contract Administrator
• Dr. Leonard Abbeduto, Director
• CDC - FORWARD PART C
• Active Clinics (Current)
• UC Davis – FX Clinic
• Dr. Randi Hagerman
• Rush – FX Clinic
• Dr. Elizabeth Berry-Kravis
• University of CO – FX Clinic
• Dr. Nicole Tartaglia
• Cincinnati Children’s– FX
Clinic
• Dr. Craig Erickson
• Seaside Sample Facilitation
• Walter Kaufman

41. © 2018 NFXF
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QUESTIONS?
41

42. BACKUP

43. NFXF Biobank™ Presentation
Saturday 7/14 10-11:15am
• What is it?
• How will it impact Fragile X Research?
• What the Status?
• How can I help?
Come get your questions answered here!

44. Description/Abstract
The NFXF Biobank™ is a cutting edge project that aims to facilitate and
expedite FX research through the creation of NFXF Research Ready
Materials™. Research Ready Materials™ are the combination of
biological specimens and clinical/phenotype data from the same
anonymous donors/participants. Each pair ( specimen + data) are
housed and linked together in the NFXF Biobank™, managed by and
located at UC Davis. The Research Ready Materials™ will allow
researchers better and simplified access to what they need while
making it easier for participants since a one-time specimen/data
donation can be use multiple times across multiple research projects.
Come find out where we are today with this amazing project and learn
what exciting things are happening next. (Hint: We’ve just received the
former Seaside Clinical Trials specimen samples and are working to add
them and their related data to the collection.)

45. Research Facilitation
• Biobank Project
• 62 biological samples collected to date
• Governance Committee forming; will meet for one day offsite in Sept.
• ~3500 Seaside samples acquired in June
• SOW & protocols for adding to current biobank in development
• FXCRC Consensus Documents
• Recently updated FXTAS and Genetic Counseling Clinical Practices documents
• FXTAS Consortium – Members agreed to move forward with building a consortium of FXTAS
clinics to facilitate research opportunities
• Clinical Trials Committee
• All interested members have signed Confidentiality Agreements with the NFXF to facilitate
pharma consultations
• Research Recruitment Services
• Increased interest and delivery for our services ie. social media posts, emails and website pages
by industry and researchers
• Industry
• Key Sponsors: Tri-State Alliance $50k, Zynerba $15K, Confluence $10K, Asuragen $10K
• Industry Updates – Zynerba, Fulcrum, Ovid Asuragen, Confluence, Tetra