1. health and fitness
2. disease
3. aids and hiv

S pr i n g 2015
NUMB E R 78
THE NATIONAL NEWSLETTER OF THE IMMUNE DEFICIENCY FOUNDATION
Join Us for the IDF 2015 National Conference
New Orleans - June 25 ­– 27
World’s Largest Gathering of
Individuals & Families with PI
It’s time to get ready for the world’s largest gathering of individuals and
families living with primary immunodeficiency! The Immune Deficiency
Foundation (IDF) will host the IDF 2015 National Conference at the
Hyatt Regency New Orleans,
June 25-27, 2015. Individuals
and families affected by primary
immunodeficiency diseases
(PI), clinicians, life management
professionals, industry
representatives and other members
of the community will gather for
three days to learn, share ideas and
discover the latest about PI.
Attendees can choose from 40
healthcare and life management sessions conducted by dedicated
experts. From learning about the advancements in the diagnosis and
treatment of PI, to gaining the skills needed to manage healthcare, there
are valuable experiences for everyone. For many, it is life-changing to
meet and connect with others who are going through similar situations.
The conference will serve as a great opportunity for the community to
learn more about PI CONNECT, the new IDF Patient-Powered Research
Network—a tool for patients with PI to make their voices heard in
research. Members of PI CONNECT can pose their research questions
during a Live PI CONNECT Research Forum. In addition, we are pleased
to announce that the Opening Session will feature Joe V. Selby, MD,
MPH, the Executive Director of the Patient-Centered Outcomes Research
Institute (PCORI). He will share information about the National PatientCentered Clinical Research Network (PCORnet) of which PI CONNECT is
proud to be a part of. This network focuses on the real-time experiences
of patients to help advance research.
Be sure to visit the IDF 2015 National Conference website for all the
details: www.idfnationalconference.org.
This newsletter is sponsored
by an educational grant
from Grifols.
Conference Highlights
Healthcare and Life Management
Presentations
World-renowned healthcare professionals will share their time and
expertise to help you better understand and manage your primary
immunodeficiency disease. Take advantage of the opportunities to
learn from life management professionals who will provide helpful
ideas you can use to help improve your daily life.
Welcome to New Orleans Reception
Join IDF on Thursday evening to celebrate our 8th National
Conference and the gathering of the PI community. In the tradition
of New Orleans, we will celebrate with a “second line” or a brass
band parade where everyone is invited to enjoy the music and walk
in the parade, twirl a parasol or handkerchief in the air! Sponsored
by Baxter International Inc.
IDF Zebra Gala
Few cities know how to
celebrate as well as New
Orleans, so catch the
spirit and maybe some
beads, and join us Friday
evening for a great night of
music, food, libations, and
recognitions. Of course,
the always amazing THINK
ZEBRA! silent auction will
get the evening underway.
This year, you can even
place your bids on your
smartphone! Sponsored by
CSL Behring.
Young Adult Reception
For individuals with PI, ages 19 to 30, this is an opportunity to
kick off the conference by getting to know others your age in a fun
atmosphere.
Continued on page 2
The national patient organization dedicated to improving the
diagnosis, treatment and quality of life of persons
with primary immunodeficiency diseases through advocacy,
education and research.
Joint the Order and
Get Your IDF 2015
National Conference
Registration FREE!
Conference Highlights
Continued from page 1
IDF Night at Mardi Gras World
Take a tour of Mardi Gras World’s float-building warehouse where you will see awe-inspiring parade floats.
Then, go back in time to the magnificent Grand Oaks Mansion, right next door. The Mansion is a vintage
Louisiana, indoor replica of an antebellum mansion, complete with towering columns, magical footbridges,
magnificent oak trees and a starlit sky. You will be treated to a New Orleans style buffet dinner and great
music.
IDF Exhibit Hall
Be sure to allow enough time in your schedule to visit the Exhibit Hall where companies and organizations
are ready to show you the newest products and services available to the primary immunodeficiency
community. If you visit them all, you even have a chance to play the Visit and Win game and win an iPad.
IDF Order of the Zebra members are the elite
fundraisers whose efforts make the greatest
impact on the success of each IDF Walk for
Primary Immunodeficiency, and on IDF itself.
Benefits of being a member of the Order
include:
• A medal signifying your Order membership
that can be worn with distinction
•Listing of your name as an Order member on
the Walk website
•Special recognition in IDF publications and
at select IDF events
•And now, free IDF 2015 National Conference
Registration!
By registering for the 2015 IDF Walk for Primary
Immunodeficiency and raising $1,000 or more
prior to the conference, you will earn a refund
of your conference registration fee and be
recognized as one of the walk’s top fundraisers
as a member of the IDF Order of the Zebra.
Whether you live near one of our nine Walk sites
or want to participate in our Nationwide Virtual
Walk, the funds that you raise as a member of
the Order of the Zebra will make an enormous
impact upon IDF. We are thrilled to offer the
registration fee refund as a little reward for
achieving so much so early in the year.
HERE’S WHAT YOU NEED TO DO
TO GET STARTED:
1) Go to www.walkforPI.org
2) Register for the Walk of your choice
3) Customize your fundraising page
4)Start asking your community to support you
and your Walk!
Once $1,000 has been recorded on your
individual fundraising page (not your team
page), IDF will be automatically notified. Funds
must be recorded on your page by June 22,
2015 in order to qualify for the registration fee
reimbursement.
For more information, please e-mail
[email protected].
Reimbursements for Conference registration fees
will be processed approximately two weeks after
the National Conference concludes.
2
IDF ADVOCATE
Youth Programs
Fun, age-appropriate activities and educational sessions are planned for everyone in the family, even as
young as six months old! A trip to the Audubon Aquarium will be included for all children in the youth
programs, ages 5 and older. Youth programing is available on Friday and Saturday, June 26 and 27.
Chronic Granulomatous Disease Symposium
For the first-time, IDF will host a special symposium for those living with Chronic Granulomatous
Disease (CGD). This is an exclusive in-depth opportunity to learn more about CGD treatment, news
and research from top medical experts during sessions held Thursday afternoon and Friday morning.
Participants can attend general sessions Friday afternoon and Saturday. Sponsored by Horizon
Pharma.
Wiskott-Aldrich Syndrome Symposium
Individuals and families living with Wiskott-Aldrich Syndrome (WAS) can take part in a special symposium
held Thursday afternoon and Friday morning. Healthcare professionals will present the latest information
regarding diagnosis and treatment of WAS, and participants can attend general sessions Friday afternoon
and Saturday.
Professional Medical Education Program
On Saturday, June 27, the Clinical Immunology Society (CIS) will host the Professional Medical Education
Program Update in Diagnosis and Management of Primary Immunodeficiency Disease for healthcare
professionals, featuring sessions about primary immunodeficiency diseases and offering Continuing
Medical Education (CME) credits for participants.
New Sessions
This year, IDF looks forward to presenting several new sessions:
• Complementary and Alternative Medicine
• Young Adults - Life Beyond High School
• Practical Q&A on the Administration of Ig Therapy
• Taking Care of Ourselves: Women Getting it Done!
• For Men Only
• Nutrition and Immunity
Learn more about the IDF 2015 National Conference and register online at
www.idfnationalconference.org.
See you in June!
IDF 2015 National Conference Sponsors
Legacy Sponsors
Baxter International Inc.
CSL Behring
Grifols
Silver Sponsors
Biotest Pharmaceuticals
Horizon Pharma
IgG America/ASD Healthcare/US Bioservices
Sigma-Tau Pharmaceuticals
POWER UP YOUR HEALTH
IDF ePHR Challenge
The Immune Deficiency Foundation challenges you to
POWER UP YOUR HEALTH with IDF ePHR, the electronic
personal health record designed for the primary
immunodeficiency (PI) community. IDF ePHR features
innovative tools to help you improve your health and
organize your info—even on the go!
The first 1,000 people to sign up for IDF ePHR in 2015 will
receive a free portable electronic charger*, and you’ll also
be entered to win one of three incredible prizes:
• iPad® Air 2, 16GB
• iPad® Mini 3, 16GB
• $100 American Express® Gift Card!
The drawing will be held during National Primary Immunodeficiency Awareness Month and
World PI Week, April 29, 2015. Winners will be announced via IDF social media, and winners
will receive an e-mail. See official rules for further details: www.primaryimmune.org/challenge.
IDF ePHR can help you improve your health!
• Track your health and fitness goals, set reminders and notifications.
• Easy-to-use tools to help organize your info.
• Access IDF ePHR from anywhere—your computer, tablet or phone.
• Keep your medical info safe, secure and private at no cost to you.
Take this challenge to
POWER UP YOUR HEALTH with IDF ePHR!
Questions? Contact IDF: 800-296-4433 or [email protected].
Tell us how you POWER UP YOUR HEALTH—use #idfephr and share your story!
IDF Friends: www.idffriends.org | Twitter & Instagram: @IDFCommunity
Facebook: www.facebook.com/ImmuneDeficiencyFoundation
The IDF ePHR is sponsored in part by CSL Behring.
Spring 2015
3
April: National Primary Immun
April is National Primary Immunodeficiency Awareness Month! Join IDF, in partnership with
World PI Week celebrated April 22 to 29, to promote awareness of primary immunodeficiency
diseases (PI) in your community.
If you live with primary immunodeficiency or you have a significant relationship with
someone who is affected, you know how important it is to raise awareness and
understanding about these rare diseases. You have the power to educate and inform
people about primary immunodeficiency, and this knowledge may lead to early diagnosis
and appropriate treatment.
To get you started, below are ways you can help. Have fun, be creative and help
increase awareness of primary immunodeficiency!
Get the Word Out and Help Others
“Learn More” Poster
*
IDF programs and resources produce benefits for thousands of people living
with PI, but people need to find IDF first! IDF developed the Learn More – IDF
Awareness Poster to lead patients and family members to IDF to use our services
and innovative materials. Awareness Month is the perfect time to distribute it.
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Start in your community! Are you a member of Facebook groups or other online
communities related to PI? Share the Learn More – IDF Awareness Poster
with them! You can download or order awareness posters, information cards
and IDF publications to distribute at libraries, doctor’s offices, infusion centers,
home healthcare companies, places of worship, schools and other civic organizations.
No matter how or where you decide to get your message across, IDF has the resources
you need. Download materials at www.primaryimmune.org/awareness, or order
copies by contacting IDF at [email protected] or 800-296-4433.
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Use Social Media
Local
Media
Contact
Local Media
Tell your story to the local media
with the help of our Media Kit at
www.primaryimmune.org/awareness.
The kit includes steps on how to go
about contacting the media, sample
letters and press releases, FAQs about primary immunodeficiency diseases and
other helpful information to use when reaching out to your local media. News
outlets are always looking for a good human interest story, so contact them and
share yours!
Use social media to share basic facts and information about
primary immunodeficiency.
•Log into IDF Friends and connect with others living with
primary immunodeficiency diseases in discussion forums
and groups. Find others in your area to organize your efforts:
www.idffriends.org.
•Teens can share what they are doing to promote awareness
in IDF Common Ground, IDF’s social network just for teens:
www.idfcommonground.org.
•Share your story with your own video at IDF Reel Stories:
www.primaryimmune.org/idf-reel-stories.
•Like IDF on Facebook, follow @IDFCommunity on Twitter and
Instagram and encourage your friends and followers to do the
same! #primaryimmune #PIawareness
4
IDF ADVOCATE
unodeficiency Awareness Month
Take Action and Advocate
World PI Week: April 22-29
Advocacy gives you a voice! You do not need to be a professional
lobbyist to influence how policy and legislation is created. Grassroots
advocacy helps to personalize an issue and begins to help solve some
of the problems that our community faces. Visit the IDF Advocacy
Center to view priorities for our community. Be sure to sign up for
IDF Action Alerts and get your IDF Advocacy Toolkit at
www.primaryimmune.org/idf-advocacy-center.
IDF will join the efforts of organizations across the globe to promote
awareness of primary immunodeficiency diseases during World PI Week,
April 22-29. IDF will participate in worldwide initiatives with the objective
to Test, Diagnose and Treat! For more information about World PI Week,
visit www.worldpiweek.org.
Take the IDF ePHR
Challenge
Don’t forget that the winners of the IDF ePHR Challenge will be
announced at the end of Awareness Month. Don’t be left out! Do
yourself a favor and sign up for IDF ePHR, a remarkable resource for
the PI community to help improve and track your health. You might be
a winner!
See complete IDF ePHR Challenge details on page 3.
Tell Us What You Did
Make sure you tell us what you did to promote awareness in your
community! Submit your stories and pictures for inclusion in the IDF Blog
and/or the IDF ADVOCATE newsletter: [email protected].
If you have questions or need some help, contact IDF at 800-296-4433
or e-mail [email protected]. Thank you for promoting awareness!
Celebrate
IDF Volunteers
Volunteer Awareness Week
April 12 – 18
In celebration of Volunteer Awareness Week, we want
to extend our gratitude to our nationwide network of
dedicated IDF volunteers. If you have been helped by
an IDF volunteer, reach out to them during Volunteer
Awareness Week and thank them! Whether you send
them a note or mention them on social media, let them
know how much their assistance was appreciated.
Thank you to our amazing volunteers and all you do!
Interested in volunteering for IDF?
Learn more at www.primaryimmune.org/volunteer.
Spring 2015
5
Ann
ou
dition
E
d
e
t
a
d
p
U
ng
i
Immune Deficiency Foundation
c
n
Diagnostic & Clinical Care Guidelines for
Primary Immunodeficiency Diseases
The Immune
Children’s Hospital; Francisco A. Bonilla, MD, PhD, Boston
Deficiency Foundation
Children’s Hospital; Hans D. Ochs, MD, Seattle Children’s
Diagnostic & Clinical
Hospital and University of Washington; and Jerry Winkelstein,
Care Guidelines
MD, Johns Hopkins University School of Medicine.
for Primary
Immunodeficiency
Immune Deficiency Foundation
Diagnostic & Clinical
Care Guidelines
Diseases has
been one of the
for Primary Immunodeficiency Diseases
Foundation’s most
popular publications,
and the new third
THIRD EDITION
Marcia Boyle, IDF President & Founder, expressed her
gratitude to the team, “The Immune Deficiency Foundation
is extremely grateful to Dr. Buckley and all the contributors
for their time and expertise. Their knowledge is so critical in
developing this valuable resource which is bound to help save
lives.”
edition is now
The original Guidelines was published in 2006, and minor
available.
revisions were made in the second edition in 2009. The third
In partnership
with expert
immunologists, IDF
edition has been thoroughly reviewed and updated, and
contains information on:
•Selected Primary Immunodeficiency Diseases
developed these guidelines to enhance earlier diagnosis,
•Antibody Production Defects
improve health outcomes and increase access to specialized
•Cellular or Combined Defects
healthcare and optimal treatment for patients with primary
•Phagocytic Cell Immune Defects
immunodeficiencies.
•Mendelian Susceptibility to Mycobacterial Disease
“The Guidelines were developed as a guide to help treating
•Complement Defects
physicians, patients and their families,” explains Editor
•Genetic Counseling: General Considerations and Practical
Rebecca Buckley, MD, the Chair of the IDF Medical Advisory
Committee and the J. Buren Sidbury Professor of Pediatrics
and Professor of Immunology at Duke University Medical
Center, “They include recommendations, strategies and
other information to assist patients and physicians in making
early diagnosis of primary immunodeficiency and educated
decisions about appropriate healthcare for patients with these
Aspects
• Health Insurance
•Glossary
It also includes a new section on Mendelian Susceptibility to
Mycobacterial Disease and updated International Classification
of Diseases (ICD) codes.
diseases. This new edition has the latest recommendations
These guidelines are not only intended to better educate
and treatment information.”
physicians on the recognition, diagnosis and optimal treatment
of these diseases, but they are also intended to provide
Dr. Buckley led a working committee of contributors: Mark
patients with resources to deal more effectively with their
Ballow, MD, University of South Florida; Thomas Fleisher,
physicians and with insurance providers.
MD, National Institutes of Health; Sergio D. Rosenzweig, MD,
PhD, National Institutes of Health; R. Michael Blaese, MD,
Immune Deficiency Foundation; Steven Holland, MD, National
Institutes of Health; William T. Shearer, MD, PhD, Texas
This publication, like all IDF materials, is available at no charge
to individuals. Download or order a copy of the Guidelines at
www.primaryimmune.org/idf-publications.
This publication was made possible through a generous grant from Baxter International Inc.
6
IDF ADVOCATE
D
New IDF Website
Dedicated to Chronic
Granulomatous
Disease
LivingwithCGD.org
IDF developed a new website dedicated to individuals and
families living with Chronic Granulomatous Disease (CGD),
LivingwithCGD.org. The website provides the latest news and
information regarding diagnosis and treatment and serves as
a platform to connect individuals and families living with CGD. The site features videos from individuals living with CGD and an integrated blog
with news, events and patient stories.
CGD is a rare primary immunodeficiency disease (PI) in which one group of the body’s white blood cells, called neutrophils, fail to make the
hydrogen peroxide, bleach and other chemicals needed to fight bacterial and fungal infections. CGD affects an estimated 1,200 people in the
U.S. and approximately 25,000 people worldwide.
IDF launches the website at a pivotal time for CGD, as more treatment options are available today, enabling patients to lead healthier and more
active lives. To further educate and generate awareness, IDF will host its first two-day CGD Symposium at the IDF 2015 National Conference in
New Orleans on June 25-27, 2015. More details are available at LivingwithCGD.org.
We welcome individuals and families with CGD to share their story in video or on the site’s blog. Contact IDF if you are interested:
800-296-4433 or [email protected].
Visit IDF’s new website today! LivingwithCGD.org
This site is made possible by an unrestricted educational grant from Horizon Pharma.
Parents and Students:
New IDF School Guide Available!
dation
cy Foun
Deficien
ts with
r Studen y Diseases
fo
e
id
u
G
c
School
deficien
Immuno
ry
a
m
ri
P
Immune
The Immune Deficiency Foundation
School Guide for Students with Primary
Immunodeficiency Diseases – Third Edition
is now available! IDF developed this guide
to help facilitate effective communication
between parents, students and
school personnel. When primary
immunodeficiency affects a student’s
education, the parents or the student (if
appropriate) can use this guide to work
with school personnel and develop a
plan to address issues that might arise
during the school year.
This Third Edition has been revised and updated and includes new information
regarding federal laws and health insurance, and it incorporates helpful information
about transitioning from high school to post-secondary education. Plus, more
sample letters and forms were added.
ITION
THIRD ED
To download or order a copy, go to www.primaryimmune.org/idf-publications.
This publication was made possible through a generous grant from Baxter International Inc.
Spring 2015
7
What Is a Biosimilar and
Why Should Patients Care?
What Is a Biosimilar Drug?
patient or the prescriber. Safety is always an
In simple terms, a biosimilar drug is a partial
issue and IDF believes that patients have the
copycat drug that is similar but not exactly
right to know before their treatment whether or
the same as an existing biologic drug, called
not the drug is the biologic drug prescribed by
a reference drug. Brand name drugs, like
a healthcare provider. Some states have laws
many found in your local drugstore, can have
that patients and providers don’t have to be
Patients
for Biologics
Safety and
Access Guiding
Principles
exact copies called generic drugs. However, a
notified. Most allow for notification, but after
biosimilar drug cannot exactly copy a specific
the substitution has occurred.
biologic drug. Immunoglobulin, for example, is
In IDF’s recent health insurance survey,
a biologic.
patients with PI were asked, “Should a
It is important that biosimilar drugs, while not
pharmacist have the authority to substitute a
identical, can be manufactured to be as safe
biosimilar for its reference drug if it is deemed
and effective biologic and biosimilar
and effective as a brand named reference
interchangeable by the FDA?” Nearly two-
medicines.
product. And the hope is that these biosimilar
thirds of patients responded “No.” And nearly
drugs will be significantly less expensive
30% of other patients responded that they
all the information necessary to make
allowing patients greater access to them. The
didn’t know or were not sure.
a fully informed choice about whether
first biosimilar drug in the U.S. is on its way to
being approved in the next few months.
Patients for Biologics Safety
and Access
It would be great to have cheaper drugs for
Other regulatory issues regarding the approval
patients with primary immunodeficiency
testing procedures and product labeling also
appropriate tracking of adverse events
diseases. IDF supports less expensive drugs.
concern IDF. Because of these concerns,
for all biologics, including biosimilars,
But, we are concerned about the rules of the
IDF is now spearheading a coalition of 23
so that safety problems are promptly
FDA approval process as to whether these
national patient organizations who share similar
and accurately identified.
new drugs will be as safe and effective as the
interests. The Patients for Biologics Safety and
existing biologic drugs.
Access (PBSA) coalition believes that patients
nonproprietary names to eliminate
At this time, the approval rules are not finalized
must be a part of the FDA approval process
confusion, allow prescribers to
– and thus not known. The FDA has published
for both biologics and biosimilar drugs. PBSA
accurately track the therapeutic agent
draft “Guidance” documents, but they have not
is seeking a Congressional oversight hearing to
in a patient’s medical record and
been finalized and they do not tell exactly what
make sure patients are a part of the decision
quickly trace a product to an adverse
the process is and how patients will have the
making process.
event.
opportunity to be involved in the process.
IDF will keep patients with PI informed and
Critical Questions
will call for patient action through IDF’s Action
innovation, but ensure incentives
Alerts. Register for IDF Action Alerts at
remain to bring new therapies to
www.primaryimmune.org/action-alerts. Your
market for patients.
There are many critical questions the FDA
has not answered. Will these new drugs
have distinct names that allow patients
1.Patients must have access to safe
2.Prescribers and patients should have
to use an innovative biologic or the
biosimilar version.
3.Steps must be taken to assure
4.Biosimilars should have unique
5.Biosimilar pathways should support
voice is important!
and physicians to know what they are? If
a biosimilar shares the same name as the
referenced product drug, it makes it hard for
patients to know what drug they are taking.
This is a major issue because states are
already passing legislation that would allow a
pharmacist to substitute the biosimilar drug for
its reference drug without notifying either the
www.biosimsafety.org
8
IDF ADVOCATE
SCID Q & A with Sung-Yun Pai, MD
Sung-Yun Pai, MD, a pediatric hematologist/oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders
Center, was lead author on two articles published last year on Severe Combined Immune Deficiency (SCID) in The
New England Journal of Medicine: “Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009”
July 31, 2014 and “A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency” October 9,
2014. The first reviewed outcomes after bone marrow transplantation; the second reported the first results of a new
international gene therapy trial for X-linked SCID.
Q. What is SCID?
A. SCID is a group of disorders that compromise
the blood’s T cells, a key component of the
immune system that helps the body fight
common viral infections, other opportunistic
infections and fungal infections. They are also
important for the development of antibody
responses to bacteria and other microorganisms. A baby born with SCID appears
healthy at birth. Once the maternal antibodies
that the baby is born with start to wane, the
infant is at risk of life-threatening infections.
Unless diagnosed and treated with a stem
cell transplant from a healthy donor or a more
experimental therapy like gene therapy, babies
with SCID typically die before their first birthday.
Q. How is stem cell transplant used to treat
children with SCID?
A. Transplantation using healthy donor cells
derived from a variety of sources has been
described for SCID since 1968. The ideal
donor is a healthy sibling donor with a matched
tissue type. However, only 25 percent or less
of siblings will be matched to the patient, and
fewer siblings still will be healthy and suitable to
donate. For most patients, the donor is a parent,
an unrelated suitably matched adult or umbilical
cord donor.
Q. Please describe your paper on transplant
outcomes.
A. We examined outcomes for 240 patients
transplanted in North America between
2000 and 2010. Virtually all patients with a
matched sibling donor survived, but only half
of babies who were actively infected at the
time of transplant survived. Babies who had
never suffered an infection or whose infection
had resolved prior to transplant had excellent
survival, regardless of age or donor source.
Actively infected babies who got chemotherapy
or immunosuppressive conditioning prior to
transplant had lower survival compared to
those who received no conditioning. While
overall we found better immune system
recovery in surviving babies who received
chemotherapy conditioning, this benefit must
be weighed against the long and short-term
toxicities of chemotherapy. The longer you wait
for transplant, the more likely it is that a baby
with SCID will develop an infection, making it
important to transplant babies as soon after birth
as possible. Newborn screening in all 50 states
is critical for this.
Q. What is gene therapy?
A. Gene therapy is an experimental treatment
currently available for X-linked and adenosine
deaminase deficient SCID (ADA SCID). Clinicians
harvest the patient’s own blood stem cells,
introduce a corrected copy of the gene using a
specially designed virus called a vector, and give
those cells to the patient through a transplant.
Because the patient’s own cells are used, gene
therapy eliminates the risk of graft-versus-host
disease.
Q. Please describe your paper on gene therapy.
A. The new trial for X-linked SCID was designed
to avoid the treatment-related leukemia that
developed in one-quarter of patients in earlier
European trials. We found that a redesigned
vector is as effective in curing the SCID, and
we have preliminary evidence that it is safer.
Although our patients have not yet cleared the
two-to-six year window in which the leukemia
developed, molecular analysis shows that the
new vector did not lead to the proliferation of
cells driven by over-activity of cancer-causing
genes that was seen in the earlier trials.
Q. Which patients should consider conventional
transplant, and which should consider gene
therapy?
A. If you have a matched sibling donor you
should go with that. These transplants are
almost always performed without chemotherapy,
so even babies with an active infection do
well. These patients are at substantially lower
risk of graft-versus-host disease and rarely
get its severe form. Examples of candidates
for gene therapy include patients who lack a
matched sibling donor, as well as those with
an active infection. While most patients who
undergo transplant do not develop severe
graft-versus-host disease, for those that do, the
consequences can be debilitating. Gene therapy
trials for ADA SCID have yielded positive results
and are beginning to be covered by insurance.
Q. Looking ahead, what do you see?
A. Given the toxicity of chemotherapy
conditioning, we would like to determine the
minimal dose needed to give patients the best
chance of having normal immune systems.
In gene therapy, we are working on the next
generation vector, which we hope will be even
less prone to the development of leukemia, and
plan to introduce a low dose of chemotherapy
conditioning to promote better immune system
recovery. Both avenues of treatment are clearly
advancing. It’s too soon to say whether one will
take over for the other. Ultimately I hope to see
that all babies with SCID can be cured.
IDF SCID Newborn Screening Campaign Update
For many years, the Immune Deficiency Foundation (IDF) has strongly supported and worked
tirelessly toward establishing SCID newborn screening programs in all 50 states to save lives.
With more than 40 states either currently screening or planning to begin screening, the goal is
within reach, but much work needs to be done.
To stay up-to-date and learn how to get involved, visit the IDF SCID Newborn Screening Blog:
www.idfscidnewbornscreening.org.
The IDF SCID Newborn Screening Blog is sponsored in part by PerkinElmer and
Sigma-Tau Pharmaceuticals, Inc.
Spring 2015
9
IDF Walk for Primary Immunodeficiency 2015
e Deficienc
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Join us in 2015 for IDF Walk for Primary Immunodeficiency and help us raise awareness and power research!
Whether you’re new to the PI community or have been part of it for decades, you can support IDF’s mission of
improving lives of people with PI by helping us reach our 2015 goal of $1 million!
Im
Raising Awareness. Powering Research.
Create a Team
One of the most critical factors to reaching our $1 million goal is creating many teams
for each walk. Our teams raise an average of $1,000 each, so it’s essential to have as
many teams as possible. You can create your walk team for any of our walk sites.
2015 IDF Walk for PI Sites
Boston, Boston Common Cleveland, Wade Oval
Minneapolis, Minnehaha Park
Philadelphia, Penn’s Landing
Greater Chicago, Cantigny Park
New York City, Foley Square Los Angeles, Tongva Park Houston, Discovery Green Fort Lauderdale, Huizenga Plaza October 4
October 4
October 11
October 18
October 25
October 25
November 8
November 15
November 22
National Presenting Sponsor
National Presenting Sponsor
Baxter International Inc.
National Sponsors
Grifols
Horizon Pharma
lgG America/ASD Healthcare/US Bioservices
Visit www.walkforPI.org to register and
get your team started today!
If you do not live near any of the nine sites, you can create a team as part of our Nationwide Virtual Walk!
Free T-Shirt and More
There is no cost to participate in the walks, although we hope
every walker will help us raise funds in support of our goals. Our
walkers raise $100 on average, and each walker who raises $100
or more will receive a free 2015 IDF Walk for PI t-shirt. There
are a variety of other incentives and recognition opportunities for
those who raise more.
Raise $1,000 and Receive Free IDF
2015 National Conference Registration
Madison Shaw showing off her sweatshirt and medal. Megan Ryan
sporting her jacket. Both walkers earned their incentives for their
amazing fundraising totals.
10
IDF ADVOCATE
Join the Order and get your IDF 2015 National Conference registration FREE!
IDF Order of the Zebra members are the elite fundraisers whose efforts
make the greatest impact on the success of each IDF Walk for Primary
Immunodeficiency, and on IDF itself. By registering for the 2015 IDF Walk
for Primary Immunodeficiency, and raising $1,000 or more prior to the
conference you will earn a refund of your conference registration fee, and
be recognized as one of the walk’s top fundraisers as a member of the IDF
Order of the Zebra. Whether you live near one of our nine Walk sites, or
want to participate in our Nationwide Virtual Walk, the funds that you raise
as a member of the Order of the Zebra will make an enormous impact upon
IDF. We are thrilled to offer the registration fee refund as a little reward for
achieving so much so early in the year. Find complete details on page 3.
Immune
Deficiency Foundation
Remembers
New Memorial Plaque at IDF
WITH GRATITUDE
MEMORIAL GIFTS
11/15/2014 – 01/30/2015
Erik Anderson
Kristin Martin
Elizabeth Bald
Alan McGovern Jr.
With each issue of the IDF ADVOCATE, IDF
Todd and Kelli Berryman
Sylvia Milano
recognizes the members of our community
Brandon Dahley
Virginia “Ginger” Moore
who have had gifts made in their memory.
Fred Drew
Sharon Patterson
IDF is grateful for these gifts, as they help
Ladyne Emmerich
Samantha Penn
Paul Feinberg
Pattiann Phillips
Janese Galuszka
Reagon Rion
Phillip Giles
Jennifer Sampson
Anthony Giordano
Joseph Schwaller Jr.
Dallas Grice
Jane Smerge
has established a lasting way of
Kimberly Haws
Lenny Storz
remembering the patients, parents,
Brian Kinch
Timothy Turner
medical professionals, and others who
William Kingston
Gary Weber
we have lost who were part of our
Gregory Kole
Eric Weintraub
Jane Kreklow
Georgia Wettstein
Frank Lazzaro
Craig Zolotorow
us continue our mission in support of the
next generation of patients with primary
immunodeficiency.
Our celebration of their lives, however,
should not end with that onetime recognition. To that end IDF
community.
This year, IDF will install a perpetual
plaque with small nameplates of
persons whose memory you wish to
honor. The plaque will be updated with new names that are submitted. This expanding
plaque will remain in IDF’s office as a reminder to all that these individuals hold a place
of honor in our community’s memory.
There is no charge to have someone remembered on the plaque. If you would like to
Michael LeBien
Joseph Leeb
Jennifer Lipschultz
Thomas Marbach
Eric Marder
submit a name to be included, please e-mail that person’s first and last name along with
a little about their life to [email protected].
Support Future Generations
through the IDF Legacy Society
The IDF Legacy Society recognizes those who have included the Immune
Deficiency Foundation in their wills or who have created other types of planned/
legacy gifts in support of IDF. This type of giving makes a lasting impact by helping
future generations of individuals living with primary immunodeficiency.
If you have chosen to include IDF in your financial or estate plans, please contact
us and become a member of the IDF Legacy Society.
Membership involves no dues, obligations or solicitations, but it does allow us to
thank and recognize you for the future plans you have made. And your plans may
inspire generosity in others.
All donations help IDF improve the diagnosis and
treatment of patients with primary immunodeficiency
diseases through advocacy, education and research.
If you would like to make a donation, please go to
www.primaryimmune.org/give or contact us:
Phone:
800-296-4433 or 410-321-6647
Monday - Friday, 9 am - 5 pm (EST)
E-mail: [email protected]
Mail: Immune Deficiency Foundation
110 West Road, Suite 300
Towson, MD 21204
Each Legacy Society member will enjoy benefits including personal updates from
IDF’s President as well as recognition in publications and at special events.
For more information about the IDF Legacy Society, contact John Boyle, Director of
Development, at [email protected] or 800-296-4433.
Spring 2015
11
Non-Profit Org.
U.S. Postage
PAID
Southern MD
Permit No. 305
110 West Road
Suite 300
Towson, MD 21204
For an Updated IDF Calendar of Events, Visit
www.primaryimmune.org/event-calendar.
IDF Advocate
Editor
Christine M. Belser
Medical Editor
Rebecca H. Buckley, MD
Watercolor by Jenny Armitage, www.fineartamerica.com
Managing Editor
Kara M. Moran
Hyatt Regency
New Orleans
www.idfnationalconference.org
Register Today!
Senior Editor
Adam Freestone
IMMUNE
DEFICIENCY
FOUNDATION
BOARD OF TRUSTEES
Barbara Ballard
The Immune Deficiency Foundation
publishes IDF Advocate three times a
year. To obtain a free subscription,
please contact:
Douglas R. Bell
IDF Advocate
Immune Deficiency Foundation
110 West Road, Suite 300
Towson, Maryland 21204
Rebecca H. Buckley, MD
Toll-Free800-296-4433
Direct410-321-6647
Monday-Friday, 9 am - 5 pm (EST)
Fax410-321-9165
E-mail
[email protected]
Websitewww.primaryimmune.org
John Boyle, PhD
Marcia Boyle
Joel Buckberg, Secretary
Carol Ann Demaret
Steve Fietek, Vice Chair
Terry Halper
Mary Hurley
Seth Kaufman
Chuck Lage
Robert LeBien
Richard Low, Jr.
Copyright © 2015 by the Immune Deficiency
Foundation. The Immune Deficiency
Foundation is a publicly supported, tax-exempt
organization as described under Section 501
(C) (3) of the Internal Revenue Code of 1954,
as amended.
Brian Rath
John Seymour, PhD, LMFT, Chair
John Smith
Amy Walsh