This document summarizes a presentation given on World Down Syndrome Day about Down syndrome cognition research. It discusses the mission of the Down Syndrome Research and Treatment Foundation to fund research to improve cognition for individuals with Down syndrome. It provides an overview of the organization's history, research strategy, and results including identifying 8 potential drug targets and supporting 3 clinical trials. The presentation also discusses cognitive challenges for those with Down syndrome and how targeting memory systems and related mechanisms could help improve learning, memory, and independence.

1. Down Syndrome Cognition Research 101: An Introduction
March 21, 2013
World Down Syndrome Day
Sarah Wernikoff Dr. Michael Harpold, Ph.D. Dr. Omar Khwaja, M.D., Ph.D.
Board Chair, DSRTF Chief Science Officer, DSRTF Translational Medicine Leader
Roche

2. World DS Day
March 21st 2013
AGENDA
1. Introduction, About DSRTF – Sarah Wernikoff, DSRTF
• Mission, Organization and Research History
• Goals, Strategy and Results
• NIH Funding Gap
2. Research Overview – Dr. Michael Harpold, DSRTF
3. Roche Clinical Trials – Dr. Omar Khwaja, Roche
4. Participant Q&A

3. World DS Day
March 21st 2013
Overview: The DSRTF Mission
The mission of DSRTF is to….
• Stimulate and fund cognition research to improve learning, memory, and
speech for individuals with Down syndrome
• Translation of research to deliver treatments to allow individuals to:
• Participate more successfully in school
• Lead more active and independent lives
• Prevent or delay early cognitive decline (i.e. Alzheimer’s Disease)

4. World DS Day
March 21st 2013
Overview: History
2003 Decoding of human genome opens door to cognitive research
2004 Mouse model for DS developed by researchers in London; DSRTF is founded
2005 DSRTF awards first grant to Dr. William Mobley of Stanford University
2006 First drug target, the APP gene, identified by Dr. William Mobley and his team, linking cognitive
impairment in DS to the cognitive decline experienced in Alzheimer’s disease
2007 DSRTF establishes it’s Scientific Advisory Board, the only scientific board in the US dedicated
exclusively to cognition research for DS
2008 DSRTF announces supporters had held over 50 events in over 20 states since the organization's
founding
2008-2010 DSRTF expands grant awards to include Johns Hopkins University, UC San Diego, University of
Arizona, University of Texas, and the VA Hospital of Palo Alto
2011 Roche Pharmaceuticals begins clinical trial of the first potential therapy designed to improve
cognition and adaptive behavior in individuals with Down syndrome
2012 TODAY: Over $9M in funding provided, 8 drug targets identified and 3 clinical trials underway

5. World DS Day
March 21st 2013
Overview: Organization
Board of Directors
Currently 9 members from NY, Boston, Chicago,
Kansas City, San Francisco and LA
Lori Morton Carolyn Cronin
Director of Philanthropy Executive Director
& Operations
Michael Harpold, Ph.D
Chief Scientific Officer
Scientific Advisory Board
Currently 6 members

6. World DS Day
March 21st 2013
Overview: Why Cognition Research?
• Life expectancy of individuals with Down syndrome have more than doubled
in the last 30 years – from 25 to nearly 60 years old.
• The majority of those with DS experience mild-to-moderate cognitive
impairment, thus a small improvement = great impact to independence.
• Cognitive challenges are are limiting throughout these longer lives, and
typically increase with age:
Nearly 90% of individuals with DS develop the neuropathology
of Alzheimer’s disease by the age of 40.
• The decoding of the human genome in 2003 made this research possible, and
last 8 years of progress tells us treatments are probable.

7. Overview: Our Goal
Moving the Curve Toward Greater Independence
Dependent Living Independent Living

8. Overview: Our Strategy
FOCUS
An exclusive focus on cognition research
RESOURCES
Attracting and retaining talented researchers into the field
COLLABORATION
Fostering interdisciplinary coordination and communication
TRANSLATION
Accelerating the move from research into treatments

9. DSACF Lunch & Learn
January 14th 2013
Our Results and Clinical Trials
At DSRTF we are proud of our achievements during our initial 8 years…..
• Identification of eight drug targets, leading to three drug candidates.
• Catalyst for the research that has lead to the Roche clinical trials (one of
five targets identified through our research).
• Over $9M in funding at the following research institutions:
o Stanford University
o VA Palo Alto Healthcare System
o University of California San Diego School of Medicine
o Johns Hopkins University School of Medicine
o University of Arizona
o University of Texas, Austin
• A Scientific Advisory Board focused exclusively on identifying the most
promising DS cognition research in the U.S.

10. DSACF Lunch & Learn
January 14th 2013
NIH Funding Gap
Dollars Spent by the NIH per Capita 52X
Relative to Other Disorders
39X
6X 27X
13X
3X
28X
2X
5X
Population size in US: 250K 1.5M 400K 1.5M 400K 45K 17.5K 30K 30K 30K

11. World Down Syndrome Day Webinar – 2013
Down Syndrome Cognition Research Overview
Major Progress in Translating Discoveries into New Therapies
Michael M. Harpold, PhD
Chief Scientific Officer & Chair, Scientific Advisory Board
Down Syndrome Research and Treatment Foundation

12. World DS Day
March 21st 2013
Down Syndrome Research and Treatment Foundation
DSRTF
Founded in 2004
501(c)(3) Organization
Mission
To stimulate biomedical research that will accelerate development of treatments to significantly
improve cognition, including memory, learning and speech, for children and adults with Down
syndrome.
Creating New Opportunities for All Individuals with Down Syndrome
• To lead more independent lives
• To participate more successfully in schools & employment
• To prevent additional early cognitive decline with aging & Alzheimer’s disease

13. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Creating New Opportunities for All Individuals with Down Syndrome Through Cognition Research
 Rapid success and validation of the new Research Strategy achieved
 More than $9.0 million in new research funding since 2004
 Established critical biomedical expertise – Highly distinguished, accomplished & proactive Scientific
Advisory Board, researchers & new collaborations
 Defined multiple mechanisms involved in cognitive impairment associated with Down syndrome
 Identified and pursuing at least eight new potential therapeutic drug targets

14. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Creating New Opportunities for All Individuals with Down Syndrome Through Cognition Research
 Rapid success and validation of the new Research Strategy achieved
 Targeted grants to advance new therapeutic targets through drug R&D pipeline, including target
validation, identification and evaluation of effective drug candidates
 Focused on accelerating toward innovative, safe and effective clinical trials together with the
development of effective new therapies and new opportunities for all individuals with Down
syndrome
 ** New clinical trials - Biopharma engagement **
 Roche RG1662 Clinical Trials – Initiated September, 2011
 Balance Therapeutics BD-001 Clinical Trial – Initiated August, 2012
 AC Immune ACI-24 Clinical Trial in Down syndrome IND Approved by FDA – January, 2013
 Leveraged >$7 million in additional research funding from NIH, universities & other foundations
 Partnerships & collaborations in achieving breakthroughs

15. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
Why Cognition Research in Down Syndrome?
 Neurological manifestations of Down syndrome are disabling.
 Early developmental & sustained cognitive disability & issues are most significant:
• Extending across the lifespan
• Development is globally slowed
• Generally, mild to moderate cognitive impairment with marked involvement
of memory, learning and speech
• Significant related life issues: independence, speech/communication, sleep
problems
 Majority of individuals with Down syndrome show the neuropathology of
Alzheimer’s disease by the age of 40, and majority show further cognitive decline
 New biomedical research can significantly advance more detailed understanding of
cognition in Down syndrome to not only yield safe and effective new therapies,
but also new and more effective interventional strategies in education,
employment and independence.

16. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
Memory Systems: Hippocampus
• Detects and stores novel information-
allowing for quick adaptation
• Binds together pieces of information
• “Talks” to the rest of the brain to
store and update knowledge
• Helps construct a “map” of the world
in our brain. Memories are best
One target system- recalled when this map is intact.
hippocampus and
surrounding cortex

17. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
Memory Systems: Frontal Cortex
• Involved in “working memory”- keeping
information online and working with it.
• Alloway (2009) found working memory
was a better predictor of school
performance than IQ.
• Allows for flexibility; less “getting stuck” on
a way of solving a problem
• Helps to plan actions- the CEO of the brain
• Regulates attention and keeps behavior in
Frontal cortex is the brain’s check
CEO
• Abstract thinking (e.g., concept of time)

18. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
What impact could changing these “memory systems” have in Down Syndrome?
Behavior
Better school Improvement-
Greater progress e.g., “less
connections Better stubborn”
More More
Attention and
Associations Flexibility Greater
in their Task “Juggling”
Faster at
knowledge ability &
processing
willingness to
and initiating
try new
activities
strategies

19. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
Evidence for links between memory and learning in Down Syndrome
• Binding of information on “hippocampal tasks” relates to adaptive
behavior scores
• Memory for complex objects relates to language ability
• Auditory working memory is highly related to IQ
Reviewed in Edgin et al. (2012). Merging human and mouse cognitive phenotypes in DS: Implications for
Assessment. Progress in Brain Research.

20. World DS Day
March 21st 2013
Cognition, Learning Memory & Speech in Down Syndrome
Bottom line:
If we don’t try, we won’t know what could be
• There is no “language” or “everyday tasks” section of our brain that can
be targeted.
• These skills are supported by memory systems
– the same systems we are modifying in mouse models such as
hippocampus and the frontal cortex.
• Changes in these systems can have a big impact in the human.
Only through regulated evidence-based clinical trials will we know if these
drugs work and how big the impact might be.

21. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Discovery, Development & Approval of New Therapies to Improve Cognition in
Individuals with Down Syndrome
Key Strategic Drivers - Questions That Must Be Addressed
 Successful development and approval of effective new therapies, including essential enlistment
of Biopharma companies and their expertise, requires answers to at least 3 key questions
 Are there evidence-based dysfunctional cognitive mechanisms together with associated validated
specific drug targets & drug candidates to ameliorate that dysfunction?
 Are there specific assessment tools that can measure meaningful improvements (efficacy) resulting from
treatment with new potential drugs – can success be demonstrated?
 Are there potential clinical trial capable sites and patient participants that can be sufficiently and
efficiently recruited for successful new drug development and FDA approval?
As recently as 2004 there were no answers to any of these questions…

22. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Coordinating, Integrating & Accelerating Progress Throughout Drug R&D Pipeline

23. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
At least 8 new potential therapeutic drug targets have been discovered and shown to
overcome specific impairments to improve cognition in mouse models for Down
syndrome, a major step toward development of effective new therapies.

24. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Targeting Early Developmental & Sustained Cognitive Disability in Down Syndrome
 Impaired connections and communications in brain neuronal circuits: 3 Targets
 GABAA Receptor (Stanford/UCSD grants)
• Drugs specifically reducing GABAA receptor-mediated neurotransmission overcome
excitatory-inhibitory imbalance in neural circuits and improve specific forms of learning and
memory.
• ** Target of New Drugs in Roche & Balance Therapeutics Clinical Trials **
 GABAB Receptor & GIRK2 (UCSD grants)
• Drugs specifically reducing GABAB receptor-mediated neurotransmission and/or GIRK2
overcome excitatory-inhibitory imbalance in neural circuits and improve specific forms of
learning and memory.

25. World DS Day
The Research Strategy & Grants Program March 21st 2013
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Impaired connections and communications in brain neuronal circuits: 3 Targets
Greater Inhibition in Hippocampus
Excitatory-Inhibitory Imbalance
GABA-A Receptor GABA-B Receptor
Inhibitors Inhibitors
Decreased Synaptic
GIRK 2 Blockers
Plasticity
Improved Synaptic
Plasticity
Suppression of Learning
& Memory Improved Learning &
Memory

26. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Targeting Earlier Development of Alzheimer’s Disease in Down Syndrome
 Brain neuronal cell and circuit degeneration – Alzheimer’s disease connections: 4 Targets
 APP & its products - Produced by over-expressed human chromosome 21 gene (UCSD/Stanford grants)
• Lowering the levels of APP and its products reduces the degeneration of specific neural circuits
involved in both learning and memory found in both Down syndrome and Alzheimer’s disease
with aging.
• ** Target of AC Immune’s New Drug & Planned Clinical Trial **
 Norepinephrine Neurotransmitter Restoration (UCSD/Stanford/VA Palo Alto grants)
• Drugs increasing norepinephrine (NE) levels in the brain overcome effects of degeneration of
specific NE neural circuits and improve contextual learning and memory.

27. World DS Day
The Research Strategy & Grants Program March 21st 2013
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Brain neuronal cell and circuit degeneration – Alzheimer’s disease connections: 4 Targets
Increased APP
Decrease APP
and/or Products
Decreased Synaptic Function Improved Synaptic Function
Neurodegeneration Halt Neurodegeneration
Cognitive Loss & Improved & Maintained
Dysfunction L-DOPS-mediated NE Cognitive Function
Increase

28. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Targeting Early Developmental & Sustained Cognitive Disability in Down Syndrome
 Neurogenesis – Impairment in formation of brain neuronal circuits: 1 Target
 SHH Pathway (Johns Hopkins grants)
• Drugs activating the brain SHH signaling pathway restore development of cerebellum and
improve specific form of hippocampal-mediated learning and memory.

29. World DS Day
The Research Strategy & Grants Program March 21st 2013
Defining dysfunctional cognitive mechanisms & drug targets – Question #1
Neurogenesis – Impairment in formation of brain neuronal circuits: 1 Target
Impaired Neurogenesis in Cerebellum
& Hippocampus
Shh Activators
Impaired Development of
Neuronal Circuits Corrected Development of
Neuronal Circuits
Motor, Learning & Improved Motor, Learning
Memory Dysfunction & Memory Functions

30. World DS Day
The Research Strategy & Grants Program March 21st 2013
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Measurement of cognitive improvement through new therapies & establishing clinical trials –
Questions #2 & 3
 Translational research initiatives address gaps and potential roadblocks in discovery and clinical R&D
 Down Syndrome-specific Cognitive Test Battery – The Arizona Cognitive Test Battery (ACTB; University of Arizona grants)
• Development of the ACTB – the first Down syndrome-specific cognitive test battery - to
significantly enable efficacy determination in clinical trials.
 DS Cognition Project - network of collaborating researchers with 9 US institutions (Johns Hopkins Research Center grants)
• Creating scaffold for effective Down syndrome clinical trials network.

31. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Measurement of cognitive improvement through new therapies & establishing clinical trials –
Questions #2 & 3
 Translational research initiatives address gaps and potential roadblocks in discovery and clinical R&D
 BioPharma Industry Engagement
• Roche, the multi-national pharmaceutical company, initiated major new clinical trial in September, 2011
• “A Study of RG1662 in Individuals With Down Syndrome”
• New investigational drug, RG1662, targeting amelioration of inhibitory-excitatory imbalance in DS
• Addresses overcoming cognitive and behavioral impairments in individuals with Down syndrome
• Phase I (18-30 yrs of age) being conducted at 9 clinical trial sites across the US; 1 site in the UK
• http://www.roche-trials.com/trialDetailsGet.action?studyNumber=BP25543&diseaseCategoryId=266
• 2 additional supporting DS clinical trials initiated in 2012

32. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Measurement of cognitive improvement through new therapies & establishing clinical trials –
Questions #2 & 3
 Translational research initiatives address gaps and potential roadblocks in discovery and clinical R&D
 BioPharma Industry Engagement
• Balance Therapeutics, Inc. initiated significant new clinical trial in August, 2012
• “Study of the Drug BTD-001 in Young Adults and Adolescents with Down Syndrome."
• Investigational drug, BD-001, targeting amelioration of inhibitory-excitatory imbalance in DS
• Addresses overcoming cognitive and behavioral impairments in individuals with Down syndrome
• Phase I (12-35 yrs of age) being conducted at clinical trial sites in Australia
• https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?ACTRN=12612000652875

33. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
Measurement of cognitive improvement through new therapies & establishing clinical trials –
Questions #2 & 3
 Translational research initiatives address gaps and potential roadblocks in discovery and clinical R&D
 BioPharma Industry Engagement
• AC Immune SA received FDA approval in January, 2013 for IND for new clinical trial in adults with Down
syndrome
• Investigational drug, ACI-24, targeting amelioration of Alzheimer’s disease (AD) neuropathology in DS
• Addressing reduction in AD “plaques” & overcoming associated memory impairments in individuals
with Down syndrome

34. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Coordinating, Integrating & Accelerating Progress Throughout R&D Pipeline
Grants Program 2012-13
For additional research details on these research projects: http://www.dsrtf.org/pages/our-research/2012-2013-grant-awards
Johns Hopkins
University of Texas UCSD Research
Research Center &
Research Pilot Grant Center Grant
Network Grant
TARGET PRECLINICAL CLINICAL TRIALS FDA
VALIDATION LEAD DEVELOPMENT
DISCOVERY REVIEW
& COMPOUND & PHASES
RESEARCH &
DRUG OPTIMIZATION IND I-III APPROVAL
DISCOVERY
VA Palo Alto Health Continuing Strategic
Stanford Research University of Arizona Engagement with
System Research Grant Research Grant
Pilot Grant Biopharma Companies
Roche, Balance
Therapeutics & AC Immune
Clinical Trials

35. World DS Day
March 21st 2013
The Research Strategy & Grants Program
‘Unprecedented’ Progress in Down Syndrome Biomedical Research
 Proactive advisory and strategic dialogue with NIH and Congress to enhance comprehensive
new Down syndrome research, maximize synergy, and increase Federal funding.
 NIH Down Syndrome Consortium with Down Syndrome Organizations
 Down Syndrome Patient Registry
 Launch Goal: mid-2013
 NIH Down Syndrome Research Strategic Plan

36. World DS Day
March 21st 2013
Down Syndrome Biomedical Research
Why is it important for the wider community?
 Alzheimer’s Disease
 Because of the shared neuropathology and higher incidence of earlier age onset of Alzheimer’s disease (AD) in
individuals with Down syndrome, the Down syndrome population may benefit from drugs developed in AD
research.
 Significantly for the same reasons, greater understanding of AD and new drugs to treat AD for the wider
population can also result from Down syndrome biomedical research.
 Solid Tumor Cancers
 Research has documented a lower incidence of a variety of solid tumors in Down syndrome – Why?
 Initial evidence is emerging showing human chromosome 21 gene(s) which when present in three copies
suppresses tumor formation
 Down syndrome research may lead to widely applicable new therapies for solid tumor cancers.
 Atherosclerosis
 Research has suggested a lower incidence of atherosclerosis in Down syndrome – Why?
 Down syndrome research may lead to widely applicable new therapies for atherosclerosis.
Individuals with Down syndrome are uniquely contributing to all of us!

37. World DS Day
March 21st 2013
What Will Be Required to Sustain and Expand the Momentum to Further Accelerate
the Development of Effective New Therapies?
How Can You Be Involved and Make a Real Difference?
 Continue to become well educated supporters and “consumers” of evidence-based Down
syndrome biomedical research.
 Partnership together for leveraging resources to accelerate realization of effective new therapies
& new opportunities for all individuals with Down syndrome
 Critical need for participation in validated evidence-based clinical studies
 ** New Therapeutic Drug Clinical Trials **
 ** New Down Syndrome Patient Registry **
 Down Syndrome Heart Project
 Down Syndrome Cognition Project

38. World DS Day
Down Syndrome Biomedical Research March 21st 2013
Creating New Opportunities for All Individuals with Down Syndrome Through Cognition Research
 “Seize-the-moment” – Unusually Significant Opportunity Now
 The ‘unprecedented’ results and progress achieved signify that effective new treatments and
greater independence are within reach for people with Down syndrome.
 Understanding and Treating Down Syndrome Is:
 No longer too complex or difficult – New research and tools, increased understanding and progress
 Not too late - Cognitive function can be modified, even in adults
 Compelling case for significant and proportionate increase in funding & investment in more
fundamental & translational Down syndrome research to build upon new momentum
 Significantly more promising & needed new research than current resources available
 Requires building upon & increasing cooperation, collaborations & partnerships
 Researchers, clinicians, their institutions, the Down syndrome community and organizations, Federal
agencies including across the different NIH institutes, and Biopharma companies

39. World DS Day
March 21st 2013
The Research Strategy & Grants Program
Creating New Opportunities for All Individuals with Down Syndrome Through Cognition Research
Building major new momentum in Down syndrome research for new
opportunities for children and adults with Down syndrome to further realize
their dreams!
Join together with us in partnership and…
Be a part of the breakthroughs !!!
www.dsrtf.org
www.dsrtf.org/plus15

40. Developing a new molecule for treatment of
intellectual disability associated with Down
syndrome
Omar Khwaja
Translational Medicine Leader for Neuroscience
World Down Syndrome Day 2013

41. Given the appropriate support and
opportunity, all individuals living with Down
syndrome can achieve their potential, realise
their human rights on an equal basis with
others and make an important contribution to
society. We must therefore intensify our
efforts to create conditions of empowerment
that allow meaningful participation of persons
with Down syndrome.

46. 46

49. Ts65Dn mouse model
Down syndrome
60
*** *** TS veh
*** *** ***
*** *** CO veh
***
Latency (s)
40
p<0.001
250
20
225
% of control EPSP slope
200
0
175 0 1 2 3 4 5 6 7 8
GABAA Receptor 150
Session
125 Behaviour
100
75
-20 0 20 40 60 80
Circuitry Time (min)
Physiology 49

50. 50

51. Effective learning and memory
requires balance between inhibition
and excitation in the brain
GABA Glu

52. In Down syndrome there appears to
be excessive inhibition by GABA
neurons Glu
GABA

55. Fernandez et
al, 2007

56. About the investigational Roche
drug RG1662
• Being investigated for
enhancing cognition
and memory functions
in Down Syndrome
• Mechanism of action:
GABA system- highly
selective for the alpha 5
subunit

57. 57

59. Roche is currently conducting 3
trials
• BP25543
– Drug study in people
with DS
• BP25612
– Non-drug study in
people with DS
• WP25611

60. Study BP25543 Objectives
Primary Objective
• Assess the safety and tolerability of RG1662 in
young adults 18-30 with Down Syndrome
Secondary Objective
•How is the drug handled by the body?
(pharmacokinetics)
Exploratory objectives
•Explore the effect of RG1662 on cognition
•Explore biomarkers

61. Selected Inclusion Criteria
• Men and women aged
18 to 30 with Down
Syndrome
• Able to give assent
• Have verbal skills to
participate in
assessments

62. Exploratory Efficacy Assessments
• Attention
– Reaction times via a computerized test
• Memory
– Immediate memory
– Short term memory
– Delayed memory
• Language
– Fluency
– Associations
• Adaptive Function

63. Study BP25612 Objectives
(Non-Drug Study)
Primary Objective
• To assess the performance and reliability of
scales and measures of
• Cognitive function
• Memory
• Adaptive behavior
• Activities of Daily Living
• Impact on Caregivers

64. Overview of Study Design
• France, Spain, UK and US
• 90 participants
• Teenagers and adults with
DS 12-30 years
• Study duration = up to 27
weeks
• Approximately 3 visits

65. Study WP25611 Objectives
(PET/fMRI Study) to the same parts
•Whether the drug gets
of the brain in people with Down
Syndrome as we have found in people
without Down Syndrome
•Whether the brains of people with Down
Syndrome have the same number of
receptors (targets) where we think the
drug works
•Whether giving the study drug makes a
difference to the way in which the brains
of people with Down Syndrome work

66. Who Can Take Part In This
Study?
Young men and women of 18-30 years old:
- With Down Syndrome
- Without Down Syndrome
If this applies to your child/ward with Down Syndrome, why might they
-If they have epilepsy
- If they are taking some types of medication that would affect the stud
-If you (as their carer) or they don’t think they can lie quite still and rel
OR
- If they have major Depression that is not adequately controlled by par
-If they have dementia
-If they have Thyroid problems not controlled by treatment
-If they have heart or blood pressure problems

70. Thank you for your
attending
70

71. We Innovate Healthcare

72. World DS Day
March 21st 2013
3:1 Match
of all donations made today at
www.dsrtf.org
…Your $100 becomes $400, your $500
becomes $2000, and so on...

73. World DS Day
March 21st 2013
Open Discussion
and Q&A