June 2011 - AT Children`s Project

For Families, Friends and Supporters
June 2011
Neurocircuitry of A-T Provides Clues to Treatments
A
lthough ataxia-telangiectasia causes immune system problems
and cancer, the relentless neurological deterioration experienced
by every A-T child contributes most to their decreased quality of life.
Two new initiatives at the A-T Children’s Project, the recruitment of
innovative neuroscientists from other disease areas and the use of imaging
technologies to measure brain activity, are leading to new ways of thinking
about this disease.
We are now pushing new scientists and physicians to go beyond unraveling
the biology that causes brain cell death in A-T to examine how the brain
circuitry disrupted by that cell death leads to the specific symptoms of lost
muscle control. While continuing to seek a cure that will either eliminate A-T
or stop its progression, we are equally eager to discover therapies that address
symptoms and make life easier for our kids now.
First-of-its-Kind Research Workshop for A-T Held in California
he A-T Children’s Project (A-TCP) gathered together a small
treat other circuit disorders. There were also discussions about the use of
group of neurologists, neuroscientists and neurosurgeons in San
new technologies like optogenetics. In addition, PET imaging, which can
Francisco, CA on October 13-15, 2010 for a first-of-its-kind research
reveal insights about brain circuitry, and potential therapies such as deep
workshop entitled “Neurocircuitry of Ataxia-Telangiectasia.”
brain stimulation were also discussed. The A-TCP is orchestrating many
T
follow-up steps and looking forward to keeping supporters updated.
In the past, the A-TCP has often sponsored research workshops focused
on two questions: What causes children with A-T to lose their brain cells
and, how can we slow brain cell death in children with A-T? However,
for this workshop, we asked participants to focus on the question: How
can we help children with A-T even if they have already lost brain cells?
Also unique to this workshop, Tom Crawford, MD (pediatric
neurologist at the A-T Clinical Center at Johns Hopkins Hospital in
Baltimore, MD) was the only participant familiar with A-T. Early
in the course of the workshop the attendees met and interacted
with A-T patients so that they could form their own conclusions
about which areas of the brain may be impaired in this disorder.
For much of the meeting, participants used a discussion format in which
they respectfully but freely debated the approaches used to understand and
Doctors Nat Heintz, Karl Deisseroth, Hyder Jinnah and Eugene Redmond meet
with the Boswell family.
New Brain Imaging Study Holds Promise for A-T
W
ith help from scientists who specialize
that examines brain function by measuring changes
in brain imaging, the A-T Children’s
in blood oxygen or blood flow related to the neural
Project is seeking ways to treat the abnormal brain
circuitry in ataxia-telangiectasia (A-T). For the
first time, a comprehensive PET and fMRI study
of the brains of adults with A-T has begun.
A-T CURE TEAM
activity in the brain.
Nora Volkow, MD, Director of the National Institute
on Drug Abuse at the National Institutes of Health
mANAGING LUNG
PROBLEMS
Long Island, New York. Ten patients with A-T,
10 healthy siblings, and 10 “control” individuals
without A-T – all 18 years of age or older – will be
and these scans give three dimensional pictures of
brain activity. fMRI stands for Functional Magnetic
Resonance Imaging, a type of specialized MRI scan
2011 update june 8.indd 1
4
(NIH), is the lead investigator for this new study
being held at Brookhaven National Laboratory in
PET stands for Positron Emission Tomography,
2
neurological
clinical trials
for children
7
MUSIC vIDEO
SPOTLIGHTS A-T
7
studied.
By learning more about the activity of the brains
in people with A-T, researchers hope to discover
possible treatments for this rare disorder.
6/8/2011 4:29:54 PM
W
ith races all over the country, the A-T CureTeam members
have walked, ran, and triathloned in an incredible effort to
raise funds to find a cure for A-T.
Join us in 2011-2012!
July 31 – The San Francisco Marathon – San Francisco, CA
Aug. 7 – Inaugural Rock ‘n’ Roll 1/2 Marathon – Providence, RI
Sep. 3-4 – Disneyland® Half Marathon Weekend – Anaheim, CA
Sep. 4 – Hy-Vee Triathlon – Des Moines, IA
Sep. 4 – Kauai Marathon and Half Marathon – Poipu Beach, HI
Oct. 9 – Bank of America Chicago Marathon – Chicago, IL
Jan. 4-6 – Walt Disney World ® Marathon Weekend – Orlando, FL
PERPETUAL TROPHY AcknowledgeS Top
Fundraisers in A-T CureTeam
T
he A-T Children’s Project announced at
the WALT DISNEY WORLD® Marathon
Weekend, the A-T CureTeam Perpetual
Trophy displaying the names of the family(ies)
who raised the most funds in any given year.
Chris & Lisa Brochu and Brittany Parker are
the first recipients of the award. (See page
6 for more on their event Hope with Every
Step.)
2
Families and friends working together for a cure for A-T
2011 update june 8.indd 2
6/8/2011 4:30:11 PM
I
n January 2011, Striders running store in Grandville, Michigan
Striders employee Aaron Barber led the 38 runners of the A-T Army
teamed up with local radio station WGRD and their Free Beer
in their weekly training runs and also encouraged them to meet their
& Hot Wings host Eric Zane to create the Striders A-T Army, a
$200 fundraising goals. The A-TCP was also the beneficiary of Striders
training group devoted to preparing for the May 14th River Bank
annual Race for a Cause 5K.
Run and to raise funds for the A-T Children’s Project.
John Van Dam, whose son was a member of the Striders team, arranged
By race time for the River Bank Run, the A-T Army had surpassed
their goals, raising over $8,000.
for a donation from CBS Billboards to promote the A-T Army.
Cathryn’s Fundraising Quilt
Cathryn Achilles,
a 20-year-old from
Wheatland, CA who
has A-T, picked out
the pattern, picked
out and bought the
fabric, sewed all of
the squares with a
machine, and drew
the A-T logo on her
computer.
T
he A-T Children’s Project is excited to team up and support Regan
Pourchot and his sons Jake and Logan and family friend Chris
Hassan as they bike cross-country in their monumental effort to help
us in our race for a cure for ataxiatelangiectasia (A‑T). This summer
they are traveling the Northern Tier
Bike Route from Washington state to
Route Details:
atcp.org/PedalItinerary
Maine biking every day and camping
along the way.
Would you like to be the owner of this 92” x 103” quilt?
Go to atcp.org/cathrynsquilt to find out more!
Fundraising plans include local
events, corporate sponsorships,
individual donations, press coverage,
social media, and opportunities to
bike with the Pourchots along the
way. Email [email protected] to
get involved.
Just Me for A-T
Personalize your own fundraising web page for any
occasion: birthdays, anniversaries, graduations,
holidays and more!
Register online at atcp.org/JustMeForAT to get your own
fundraising web page, personalize it and start sending emails
directly from your page broadcasting your wish for donations to
help find a cure for A-T!
From Left: Logan Pourchot, Chris Hassan,
Jake Pourchot and Regan Pourchot
• Fun - Easy - No registration
fee or fundraising minimum
• Personalize with your own
message and photos.
• Easily send thank you
emails to your donors from
your web page.
Regan Pourchot
3
2011 update june 8.indd 3
6/8/2011 4:30:30 PM
ground-breaking Paper Helps Doctors Manage
Lung Problems in A-T
L
ung problems cause sickness and death in
Interstitial Lung Disease
many patients with ataxia-telangiectasia
Dr. McGrath also emphasized that more treatment
(A-T). However, a lack of information from
options are needed for A-T patients who have ILD
following A-T patients’ lung disease over time
that includes chronic dry cough, rapid breathing,
has limited doctors’ knowledge of these critical
shortness of breath on exertion, hypoxemia
problems. With the goal of
(abnormally low oxygen),
providing expert advice on
the diagnosis, evaluation, and
management of lung disease
in A-T, Dr. Sharon McGrathMorrow and her colleagues
By understanding the
causes and progression
of lung problems in A-T,
recently published a state-ofthe-art paper in the journal
Pediatric Pulmonology. This
paper describes what they
have learned from seeing
researchers may be
able to discover new
ways to improve and
ma ny pat ient s w it h A-T
and observing similarities
lengthen patients’ lives.
with more well-studied lung
diseases. Dr. McGrath also presented her team’s
findings at a recent workshop and recommended
various steps for other doctors to follow.
Does Inflammation Play
a Role in A-T?
T
he A-T Children’s Project is pleased to
announce that it is jointly funding, together
with the Wobbly Feet Foundation, a research
project proposed by the A-T Clinical Center at
Johns Hopkins Hospital in Baltimore, Maryland. and crackles, in the absence
Sharon McGrath-Morrow, MD, a pulmonologist at
of viral or bacterial infections.
the A-T Clinical Center, will lead the study entitled
Steroid responsiveness,
Systemic inflammation in patients with ataxia
optimal steroid regimens and
telangiectasia. The two-year research project,
the use of immunomodulatory
which began in January 2011, follows up on a recent
doses of gammaglobulin and
discovery by Dr. McGrath-Morrow demonstrating
hydroxychloroquine need to
that the level of an inflammatory marker called
be assessed. Studies should
interleukin-8 (IL-8) is elevated in many patients with
also be performed that
A-T. This observation, published in the Journal of
characterize 1) the unique
Pediatrics, suggests that systemic inflammation may
forms of ILD found in A-T
contribute to some features of A-T.
and 2) the use of biomarkers
such as serum KL-6 and
surfactant proteins A and D as indicators of disease
progression and risk factors for developing ILD.
Dr. McGrath-Morrow’s team is now investigating
the levels of other systemic inflammatory markers,
in addition to IL-8, to determine if the elevation of
these markers is stable over time. The study will
Weak Respiratory Muscles
also examine if the antibiotic azithromycin can
Many factors can predispose people with A-T
A-T patients with weak or poorly-coordinated
to lung disease. These include susceptibility to
lower the levels of inflammatory markers. The team
muscles that impair their upper airways need to be
hopes that determining the extent to which systemic
infections, abnormal immune response, recurrent
identified early, as they may be at increased risk
inflammation plays a role in A-T may provide
aspiration (food or liquids slipping into the
for prolonged or difficult recovery from respiratory
insights into possible treatment options.
windpipe), and impaired clearance of respiratory
illnesses. Cough or congestion with meals in these
tract secretions. Several of these factors also
individuals may suggest abnormal swallowing and
contribute to the progression of other lung diseases
the tendency for food to go down the windpipe. Dr.
such as emphysema and pulmonary fibrosis
McGrath would like to see researchers address:
donate to fund
1) the optimal time to institute regular pulmonary
important research at
tissue). Clarifying the impact of these factors on
clearance measures such as chest physiotherapy,
the a-t clinical center
lung disease and its progression in A-T may help
flutter valve therapy, and cough assist devices, 2)
researchers discover new ways to improve or
the usefulness of gastric tube placement, and 3)
atcp.org
lengthen patients’ lives.
the identification of regimens that may stabilize
In her paper, Dr. McGrath described three types
or enhance muscular strength, such as exercises or
of lung disease in A-T patients that require further
devices to increase expiratory muscle strength and
study: 1) recurrent sinus and lung infections and
strategies to improve swallowing function.
bronchiectasis (which includes destruction of the
Lastly, Dr. McGrath noted that, for these critically
lungs’ muscle and elastic tissue), 2) interstitial
needed studies to happen, multiple centers around
T
lung disease (ILD) (that involves damage to the
the world that treat A-T patients need to work
auction for the A-T Children’s Project. Kemper
tissue and space around the lungs’ air sacs) and
together to improve how lung disease is evaluated
jumped at the chance to host an exclusive dinner
pulmonary fibrosis, and 3) lung disease associated
and managed. Also, an international registry that
and behind-the-scenes tour of the Colorado
with neuromuscular problems. In A-T, two or
includes all individuals with A-T could capture and
Springs Olympic Training Center for multisport
more of these problems are often seen in the same
make available to researchers valuable data on the
enthusiasts. “It was a fun way to get to know some
patient.
course of A-T related lung problems. This would
of the race directors from around the country and
help scientists generate new ideas and would serve
also to raise money for a cause, A-T Children’s
as a source for patient recruitment into multicenter
Project, that’s near to my heart,” Kemper said.
(the formation of excessive fibrous connective
Sinopulmonary Problems
In patients with A-T who have recurrent
Kemper HOSTS OTC Tour to
Fund A-T Research
hree-time Olympic triathlete Hunter Kemper
partnered with USA Triathlon to hold an
clinical trials.
sinopulmonary problems and bronchiectasis,
researchers need to determine how effective
aggressive antimicrobial treatment is for
acute exacerbations and the role of long-term,
preventative antibiotic regimens when proven
bacterial colonization may or may not be involved.
Reference: McGrath-Morrow, S.A., Gower, W.A.,
Rothblum-Oviatt, C., Brody, A.S., Langston, C.,
Fan, L.L., Lefton-Greif, M.A., Crawford, T.O.,
Troche, M., Sandlund, J.T., et al. (2010). Evaluation
and management of pulmonary disease in ataxiatelangiectasia. Pediatr Pulmonol 45, 847-859.
Dr. McGrath also recommended that researchers
explore the use of anti-inflammatory medication
to reduce lung inflammation in A-T.
4
Kids with A-T deserve first rate research
2011 update june 8.indd 4
6/8/2011 4:30:31 PM
Career-Long A-T Investigator Receives
Prestigious Research Award From the
American Academy for Cancer Research
T
he A-T Children’s Project congratulates
Yosef (Yossi) Shiloh, PhD of Tel
Aviv University, Israel for receiving the
51st Annual G.H.A. Clowes Memorial
Award from the American Academy
fo r C a n c e r Re s e a r ch
(AACR). According to
the AACR, this award
“recognizes an individual
with outstanding recent
accomplishments in basic
cancer research.”
for treatments for this rare but devastating
disease, not only through basic science, but
also through translational research involving
drug screening.
Dr. Shiloh recently thanked
the A-T Children’s Project
with the following note:
“Needless to say, this
would have not happened
without A-TCP support
over the years. This is
a perfect moment to
thank you once again
for your support and
encouragement.”
Salmon Derby — the fishing trip
of a lifetime
C
onrad Van Hierden, president of A-TCP Canada
has worked with Queen Charlotte Safaris in
British Columbia to offer an amazing 5-day, all inclusive
Salmon Derby — the fishing trip of a lifetime. Last
year’s winner was Jenny Dongelmans who caught a 49.5
pound salmon.
The 2011 Salmon Derby will take place July 25-29.
Go to atcp.org/SalmonDerby for more information.
The A-T Children’s Project
funded Dr. Shiloh’s work to
Yossi Shiloh, PhD
find the A-T gene in 1995,
and has continued to support
The presentation of this award to Dr. Shiloh
his lab over the years. His work on A-T has
underscores not only the importance of A-T
helped to explain many of the pathways
research to individuals with this disease, but
regulated by the ATM protein, which is
also its profound importance to the field of
missing or deficient in children with A-T.
cancer research.
Dr. Shiloh continues to search incessantly
Jenny Dongelmans
proudly shows her
First Place Winner
plaque.
European Workshop Galvanizes Clinicians
Focused on A-T
Jenny with her
49.5 pound salmon
Based on an article by William Davis, Chief Executive, A-T Society in the UK
A
t the end of January, approximately
60 of the world’s experts on ataxia-
telangiectasia (A-T) gathered in Frankfurt,
Germany for a two-day workshop on the
clinical aspects A-T. Organized by Stefan
Zielen, MD and Ralf Schubert, PhD from
the J.W. Goethe University Hospital, the
event attracted leading A-T clinicians
and clinician/scientists from as far as the
United States and Australia.
outcomes in patients with ataxia in Australia
by Kate Sinclair, MD, Royal Children’s
Hospital, Australia
• Amantadine sulphate for treatment of
movement disorder in A-T by Andreea
Nissenkorn, MD, Safra Children’s Hospital/
Sheba Medical Center, Israel
• Assessment of humoral immunity and
viral markers in Polish patients with A-T
by Barbara Pietrucha, MD, The Children’s
Memorial Health Institute, Poland
All attendees participated in one of three
working groups to discuss the neurological
Meeting outcomes: Drs. Zielen and Schubert
deficits, immunological abnormalities or
plan to generate a final report from the
cancer predisposition associated with A-T.
workshop which will help develop standards-
Given the limited number of patients with
of-care for patients with A-T. Also, two
this disorder, this was an extremely valuable
advocacy organizations, the UK A-T Society
opportunity to share clinical experiences,
and the US A-T Children’s Project, proposed
compare treatment approaches and outcomes
developing an A-T Clinical Research
and discuss future directions for research.
Network that would include a communication
forum for clinicians and clinician/scientists
The workshop also included presentations on
dealing with A-T, as well as the establishment
preclinical and clinical research studies from
of a continuing series of clinical research
both established as well as young clinicians
workshops. They emphasized that such an
and investigators. Of note were the following
initiative would maximize opportunities
presentations:
for shared learning and collaboration in
• Development of small molecule-read
through compounds (SM-RTCs) to correct
primary nonsense mutations by Richard
Gatti, MD, UCLA School of Medicine,
USA
designing and performing new clinical
JENISON, MI Owen Maurice
and his mom
Kim organized
a fundraiser
at Pinewood
Elementary
School selling
buttons to raise money
for A-T research. The
sale was in honor of
student Olivia Veldink
who has A-T.
CYPRESS,TX Students at Bleyl
Middle School in
Cypress, Texas
celebrate Rare
Disease Day on
February 28, 2011.
A-TCP Board Member
Beth Hughes and her daughter Emily, who
has A-T, helped raise about $1,500 and
awareness for A-T and all rare diseases.
studies for A-T.
Participants of this meeting are looking
forward to the next A-T Clinical Research
Workshop which will take place in the UK.
• Connecting patients and scientists in the
quest for understanding and improving motor
5
2011 update june 8.indd 5
6/8/2011 4:30:52 PM
hope with every step in maine
T
he Brochu and Parker families raised over $60,000 at the first
Progress report: MD Anderson Cancer
Center Investigator Uncovers New Roles
For the A-T Protein in Blood and Brain
Cells
annual Hope with Every Step in Jay, Maine. The day-long event
S
included a family one-mile
walk, a 20-mile walk, a 5K,
ince the late 1990s, Paul K.Y. Wong,
PhD, from the University of Texas MD
Anderson Cancer Center has been exploring
a “Kids Fun Day,” and lots of
what goes wrong in blood and brain cells
food and entertainment.
when the A-T protein is missing. Although
They plan to hold the event
A-T is not the primary research focus for
again in October.
Dr. Wong, a leading investigator in the area
of mouse retroviruses as a model for HIV
associated dementia, his laboratory has
Paul K.Y. Wong, PhD
produced more than 10 A-T related papers in the past decade.
Previously, Dr. Wong’s lab explored the development of the aggressive
thymic lymphoma that occurs in A-T mice, as well as methods to prevent
it. His lab also found that oxidative stress exists in blood cells from these
mice. More recently, Dr. Wong and his team demonstrated that oxidative
stress-mediated growth defects exist in neural stem cells and astrocytes
from A-T mice.
Neural stem cells give rise to the two types of mature brain cells, neurons
and glia. Astrocytes are a special type of glia that support, signal to and
influence the metabolism and activities of neurons. Lack of ATM protein
leads to abnormally high levels of free radicals in brain cells, which results
in chronic oxidative stress and the activation of specific downstream
signaling pathways. These abnormalities in A-T mouse brain cells may, at
least in part, explain the neurodegeneration associated with A-T in humans.
R
A-T CureTeam Apprentice-Style
with Tana Goertz
eality television sensation Tana
Goertz from Season 3 of Donald
Trump’s The Apprentice created a
In addition, Dr. Wong’s translational research exploring these abnormalities
may one day lead to potential therapies for individuals with A-T.
Over the years, Dr. Wong’s A-T related research has been supported
exclusively by the MD Anderson Cancer Center and disease advocacy
organizations like the A-T Children’s Project.
lot of excitement and fun conducting
the “A-T CureTeam Apprentice Style”
event during the Walt Disney World ®
Tim Borland RACES WITH PEOPLE WITH A-T
Marathon Weekend. In this interactive
session, teams of A-T kids, families, and
marathoners
Jeff Kummer with Borland at the
were split
Start of the P.F. Chang’s Rock
into teams and
‘n’ Roll Marathon in Phoenix,
raced against
Arizona.
each other and the clock to successfully
complete assigned challenges. There was
something for everyone with collaborative
t e a m s a nd t a s k s t h at Ta n a c u s t o m designed for our group, including creating
commercials and decorating wheelchairs.
Tana and “Tr ump” (artfully played by
Borland races with Paige Champion
at the Hy-Vee Triathlon in Des
Moines, Iowa.
Olympic triathlete Hunter Kemper) were
there each step of the way to critique, observe, and decide upon the
winning team.
Tana Goertz is an internationallyrecognized entrepreneur, leader, project
manager, speaker, author, and success
Jake Benarth and Borland brave the torrential
downpours and wind during the LA Marathon
in California.
coach. She learned about A-T through
Coming up: Borland will race with Cathryn
the Champion family in Iowa, her home
Achilles at The San Francisco Marathon.
state.
6
RUN FOR KIDS WHO CAN’T
2011 update june 8.indd 6
6/8/2011 4:31:26 PM
Singing and tapping to benefit A-T RESEARCH
A Very Special Evening Draws Stars
T
ony Winner and Drama Desk Nominee,
Priscilla Lopez hosted the 16th annual
A-T Children’s Project Benefit at The Clark
Priscilla Lopez and Corbin Bleu Take a Chance on a Cure for A-T
A
music video that was produced in order
to raise awareness and funding for A-T
premiered at the A Very Special Evening benefit
Studio Theatre at Lincoln Center. This was the
at Lincoln Center in New York City.
fourteenth A-T Children’s Project benefit hosted
The video features the music and performances
by Ms. Lopez.
of Adam, Jack, and Ryan of AJR, a group of
The show featured performances
three young singing and
(in alphabetical order) by AJR,
tap dancing brothers. They
a group of three young singing
perform their new song
and tap dancing brothers; dancer
“Go On Take a Chance.”
Francisco Avina starring in a piece
Young actress, Lorian Gish,
choreographed by Ron De Jesus to
plays the object of Jack’s
music by Sammy Davis Jr.; prize
affection. Filmmaker Adam
winning Ukranian violinist Mariia
Fleischhacker (May the Best
Gorkun and world-renowned Australian pianist
Man Win) directed and edited the video.
Simon Tedeschi; award-winning musical theatre
Priscilla Lopez and High School Musical star
writer Joe Iconis with actor/singers Lance Rubin
Corbin Bleu give the introduction, explaining A-T
and Jason “SweetTooth” Williams; Mamma Mia!
and making a call for donations.
star Corinne Melancon; and television and club
A-T kids Avedis Akian, Tori Bement, and
comedian Andy Pitz. The benefit was a huge
Cayenne Love make special appearances during
success, raising over $40,000 for A-T research.
the credits.
The team donated their time and talent to this
project in large part because of longtime volunteer
Eric Weinberger, who conceived of the video and
assembled the group of artists.
to watch the videO,
make a donation
and SHARE IT
WITH your friends
please go to
atcp.org/TakeAChance
scientific advisory board
David Cox, MD, PhD
Senior Vice President
Chief Scientific Officer
Target Generation Unit of
Pfizer’s Biotherapeutics and
Bioinnovation Center
Pfizer, Inc.
San Francisco, California
Larry Gelbert, PhD
Research Advisor and
Group Leader,
Functional Genomics
Eli Lilly and Company
Indianapolis, Indiana
Nat Heintz, PhD
Investigator, Professor
Head of Laboratory of
Molecular Biology
Howard Hughes Medical
Institute
Rockefeller University
New York, New York
Eugene Johnson, PhD
Professor, Dept. of Neurology
Molecular Biology and
Pharmacology
Washington University School
of Medicine
St. Louis, Missouri
Rodney L. Levine, MD, PhD
National Institutes of Health
Bethesda, Maryland
Jean Mariani, MD, PhD
Neurobiologie du
Développement
Université Pierre et Marie
Curie
Paris, France
Gary Peltz, MD, PhD
Head of Genetics
Roche Bioscience
Palo Alto, California
Helen M. Piwnica-Worms, PhD
Professor of Cell Biology,
Physiology and
Internal Medicine
Howard Hughes Medical
Institute
Washington University School
of Medicine
St. Louis, Missouri
“NEXT” for Pediatric Neurological Trials
O
ver the last few years, the Children’s
company representatives and representatives
Neu robiological Solutions (CNS)
from the FDA and National Institutes of Health
Foundation and the A-T Children’s Project
(NIH). Representing the National Institute for
(A-TCP) began to realize that a critical gap
Neurological Disorders and Stroke (NINDS) at
existed in the path to bringing potential
the NIH was Petra Kaufmann, MD, an expert
therapies to the clinic for children with
clinical trialist for neuromuscular disorders
n e u r ol og i c a l d i s o r d e r s .
who had recently joined the
A n orga n i zed net work
NINDS as Director of the
o f m u l t i d i s c i p l i n a r y,
Office of Clinical Research.
wel l-f u n d e d c l i n i c i a n s
Dr. Kaufmann immediately
Joshua R. Sanes, PhD
Professor Dept. of Molecular
and Cellular Biology, Director,
Center for Brain Science
Harvard University
Cambridge, Massachusetts
experienced in performing
saw how the need to fill this
cl i n ic a l t r i a l s fo r r a r e ,
gap in bringing therapies
ped iat r ic neu rolog ical
to children paralleled an
disorders, li ke at axia-
NINDS initiative to establish
Huda Y. Zoghbi, MD
Professor, Baylor College of
Medicine
Investigator, Howard Hughes
Medical Institute
Houston, Texas
telangiectasia (A-T), did not
a Network for Excellence in
exist. Because the absence
Neuroscience Clinical Trials,
of such a network would
given the acronym NEXT.
significantly slow the rate at
which new therapies could be
BOARD OF DIRECTORS
u.s.a.
CANADA
tested in children with brain
diseases, the A-TCP and CNS Foundation set
As a result of this interaction,
within months of the workshop,
the NINDS released a “Request for Applications”
out to find a way to fill this gap.
for NEXT that included support for clinical
Recently, the two foundations organized a
children with rare neurological diseases. The
Carlos Rodriguez
workshop near Washington, D.C. to address
CNS Foundation and A-T Children’s Project
David Veldink
the need for a network of experts in pediatric
thank Dr. Kaufmann and the NINDS/NIH not
A-TCP STAFF
neurological trials. In attendance were rare
only for recognizing this important bench-to-
disease advocates, neonatal and pediatric
bedside gap involving children, but also for
neurologists, venture capitalists, pharmaceutical
filling it with unprecedented speed.
Michael Donoghue Amy Madison
Mario Manuele
Charles Erwin
Brad Margus
Brad Margus
John Feeley
Rob Middlebrook
Conrad Van Hierden
Elizabeth Hughes
Gregory Jehlik
Executive Director - Jennifer Thornton, MSW
Science Coordinator - Cynthia Rothblum-Oviatt, PhD
Family Support Coordinator - Rosa Fernández
research sites capable of performing trials for
Fundraising Coordinator - Aletia Patterson
Fundraising Staff - Virginia Ramirez
7
2011 update june 8.indd 7
6/8/2011 4:31:27 PM
The A-T Children’s Project is a public
501(c)(3) non-profit organization that
5300 W. Hillsboro Blvd., Suite 105
Coconut Creek, Florida 33073 U.S.A.
atcp.org
800-5-HELP-A-T
raises funds to support and coordinate
biomedical research projects, scientific
NON-PROFIT ORG.
U.S. POSTAGE
PAID
BOCA RATON, FL
PERMIT NO. 770
conferences and a clinical center aimed at
finding a cure for ataxia-telangiectasia, a
fatal genetic disease that attacks children
causing progressive loss of muscle control,
cancer and immune system problems.
facebook.com/ATChildrensProject
Imagine having 4 children under the age of 5
diagnosed with ataxia-telangiectasia.
Meet the Johnsons from
Greensburg, Pennsylvania.
Ayden and his baby triplet sisters – Alivia,
Payton, and Riley – were all recently diagnosed
with A-T.
Their parents, Addison and Ryan, are asking
you to join their Giving Circle by making a
donation of $10 or more each month to help us
find a cure for their four kids and all children
battling A-T.
Their hope lies in the research coordinated and
funded by the A-T Children’s Project.
atcp.org/JohnsonsGivingCircle
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A
2011 update june 8.indd 8
6/8/2011 4:31:28 PM