GFPD 2022 Impact Report_FINAL PDF

2022 IMPACT REPORT

RESEARCH UPDATES / CONFERENCE HIGHLIGHTS / FINANCIAL STATEMENTS

TO ALL THE: That’s a long list, and I am writing that
WARRIORS on purpose.

MOMS & DADS This year, I have been left in awe by the people who continue to inspire
SIBLINGS me, challenge me and change me. You all do this and so much more.
As the mother of my daughter, Ginny who was diagnosed with a
GRANDPARENTS peroxisomal disorder, I began this work in 2010 as a parent who
FRIENDS needed information and support. Today, I continue this work - as a
parent - and also as a crusader for the hundreds of individuals around
SCIENTISTS the globe that we serve.
MEDICAL PROVIDERS I continue this work as a loving friend to the parents and family
members who are living with and taking care of our Warriors.
A DVO CAT E S I continue this work in partnership with our scientific and medical
VOLUNTEERS professionals who are working tirelessly to change the trajectory for
our patients.
DONORS I continue this work with our donors, supporters and advocates who
AND believe in the impact the GFPD has on our community.
I continue this work because of YOU.
SUPPORTERS… While the past two years have exposed all of us to challenges we
never expected, I have been constantly reminded of the resilience and
fortitude of our families and advocates. The GFPD continues to be a
beacon of HOPE for our Warriors and the people who care for them. And
despite the challenges we have seen, the GFPD today is stronger, more
vibrant and provides more programs, education and support than at
any moment in our history.
We choose a word or phrase from our values each year to focus on.
In 2022, it was “Our Families.”
We dedicate this impact report to the idea of HOPE for Our Families. I
am proud of our accomplishments, and I am more energized than ever
in our mission and our values as we create a more HOPEful future for
all GFPD Warriors and their families.

Sincerely,

Melissa Bryce
Mother of Ginny
Co-Founder and Executive Director
The Global Foundation for Peroxisomal Disorders

OUR VALUES: OUR MISSION:

CHAMPIONS To improve the lives of individuals
with Peroxisomal Disorders by funding
C Community research, championing scientific
H Hope collaboration, and empowering
A Advocate families and professionals through
M Make a Difference educational programs and support
P Persevere services.
I Inclusion
O Our Families OUR WORK:
N Navigate
S Scientific and Medical Research Through connections with medical and scientific
professionals and family support networks, our
foundation is a resource for families who have
received a diagnosis of a peroxisomal disorder in
the Zellweger spectrum and the related peroxisomal
disorders and single enzyme protein deficiencies.

OUR DIVERSE COMMUNITY:

Peroxisomal disorders impact individuals of every
race, ethnicity, socio-economic status, sex, gender,
sexual orientation, belief system, ability, and age.
Using our values of inclusion and community as
our guide, The GFPD is committed to promoting
acceptance and advocating for equality and equity
in healthcare and educational settings while
combating prejudices, discrimination, and biases.
We will engage in this important dialogue with our
diverse community by listening and learning from our
families, researchers, and professionals.

TABLE OF CONTENTS

HOPE HAPPENS HERE / 2022 Family & Scientific Conference Wrap Up . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4
DR. WALTER KOROSHETZ / Advancing research . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6
WORLD ORPHAN DRUG CONGRESS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7
RESEARCH FOR HOPE / Mousumi Bose, Ph.D. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 8
LEADING WITH HOPE / David Lapidus . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
FUNDRAISING CHAMPS . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11
ADVOCATE FOR HOPE . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12
INVESTMENT INTO HOPE . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13
INVESTMENTS IN SCIENTIFIC INITIATIVES 2010 - 2022 . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
FINANCIALS . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 16
GFPD TEAM . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18

HOPE Happens Here!

Dedicated to OUR FAMILIES, the 2022 GFPD Conference Was Our Best Ever

Six months, thousands of hours of planning and preparation,
and a lot of heart culminated in the GFPD’s largest and most
audacious conference in our history.

With nearly 300 attendees attend scientific sessions, and many Bringing HOPE to
descending on Charlotte, N.C., the of our physicians and researchers our Warriors!
five days of workshops and Warrior were on hand for various panels
Camp brought together dozens of to discuss gastrointestinal issues, You can’t help but smile
families and GFPD Warriors along palliative care, retinal gene therapies when you see Elijah Torres,
with scientists, clinicians, fellows, and more. More importantly, while the GFPD 2021 Patient
volunteers and other professionals to Warriors and their siblings were Ambassador, and Jayla
learn the latest in science, medicine enjoying the Warrior Camp and Morrison, our GFPD 2022
and supports for Warriors and their SibShops, parents and caregivers Patient Ambassador.
caregivers affected by peroxisomal could share their own experiences
disorders. in a number of workshops and
The conference comprised three roundtable discussions.
days of sessions for scientists and This year’s conference was all about
clinicians that included various “gathering together,” and many
updates on research initiatives, families were able to connect - some
learning opportunities about for the very first time.
new therapies and interventions Every GFPD conference is an
along with sessions to brainstorm opportunity for connection and
about future scientific and medical learning. This year, it was extra
initiatives for the GFPD. special for our families to be
Families had the opportunity to also together to share HOPE.

4 GFPD Impact Report 2022

296 PARTICIPANTS 60More FAMILIES 3 DOZENNearly GFPD Warriors 30More WARRIOR CAMP
FELLOWS
than REGISTERED than

50More SCIENTISTS 50More SESSIONS FOR WARRIOR CAMP SIBSHOPS
FAMILIES
than & CLINICIANS than AND SCIENTISTS

Q&A WITH HANDS-ON ONE EPIC COUNTLESS
DOCTORS PROFESSIONAL POP-INS DANCE PARTY SMILES

Fun together at GFPD Family and WARRIOR CAMP
Scientific Conference Warrior Camp.
Our Warrior Camp served over 70 individuals with
peroxisomal disorders and their siblings. Undergraduate
and graduate fellows from six different universities in 8
different degree programs were trained by Abby Pelster,
speech language pathology instructor at the University of
Nebraska-Lincoln.
Together, Warrior Camp Fellows provided more than 3,000
hours of volunteer service to make our Warrior Camp a
success with a combined value to our community of more
than $100,000.

GFPD Impact Report 2022 5

SCIENCE.

It’s like magic, but real.

While speaking to our families at the 2022 Family and
Scientific Conference, Dr. Walter Koroshetz, Director of the
National Institute of Neurological Disorders and Stroke
(NINDS), discussed the incredible advances made in science
and medicine in the past 40 years.

He then told the audience of families, scientists, including a natural history study to better understand
physicians and clinicians to “buckle up” for the next 40, peroxisomal disorders, studies on potential small
as we could see incredible advances that will be put molecule and gene therapies that could be around
into practice immediately. Dr. Koroshetz spoke about the corner, genetic research using mice that have a
various work at NINDS, and during his plenary with our peroxisomal disorder to understand disease progression,
scientists and at our scientific brainstorming session, along with a groundbreaking nutrition study with
he encouraged the GFPD to continue on a trajectory practical applications for our Warriors and their families.
of research and medical practices that will impact our Science is now. And the GFPD’s board of directors and
Warriors now and in the future. medical and scientific advisors believe we will continue
The GFPD has invested hundreds of thousands of dollars to see breakthroughs well into the future. Science is
over the past ten years to support various studies creating HOPE for all of our Warriors and families.

6 GFPD Impact Report 2022

S H I NGFPD E S
AT
WORLD ORPHAN
DRUG CONGRESS

In July, 2022, the GFPD had the amazing opportunity to present at the
World Orphan Drug Congress in Boston, Mass.

Board member - and Warrior mom to Max - Corin Chapman along with Dr. Catherine Argyriou
- a post-doctoral fellow at McGill University in the Braverman Laboratory - presented to an
audience of pharmaceutical experts and investors about retinal gene therapies and potential

small molecule therapies.
Also attending were board member David Lapidus and executive director Melissa Bryce.
We hope that additional opportunities to discuss these potential breakthrough treatments

will lead to further investment into research and trial for the therapies.
To view our presentation at WODC visit:
https://www.youtube.com/TheGFPD

GFPD Impact Report 2022 7

RESEARCH
for

HOPE
For Mousumi Bose, Ph.D.,
research is her profession.
Research is her passion.

And research is personal. As the mother of
Ilan, who passed away in 2011 due to a
peroxisomal disorder, Dr. Bose has channeled
her skills as a researcher to work directly with
the GFPD, first as a medical and scientific
liaison to the board of directors and now as a
GFPD Scientific Advisor.

Because of her experience, Dr. Bose re-focused her overall health and wellness of our Warriors. We also
career goals to study rare diseases. With the support know there are differences among those who are orally
of the GFPD, Dr. Bose contributed to the first published fed or tube fed.”
treatment guidelines for Zellweger spectrum disorder Bose said that there will be further publications coming
(ZSD). Currently, she is an Associate Professor in the in the next year based upon the study and that the work
Department of Nutrition and Food Studies at Montclair will be expanded into the future. She believes that this
State University, NJ, studying quality of life in rare disease could pave the way for better nutrition assessments and
families. One of Dr. Bose’s drivers is “a connection protocols for children with other rare diseases.
with families.”

“Recruiting scientists to our work is made easier because “We are forging a path,” Bose said. “There is no guidebook
we connect the science directly to the outcomes of the for families. I hope that this research can help our
families,” Dr. Bose said. “This interaction helps us gauge families understand the importance of nutrition,
what is important to create the most positive outcomes participation in future studies and creation of outcomes
for our families facing the challenges of peroxisomal and protocols to help hundreds of other patients in the
disorders.” future. We have the tools and I hope our families will
Bose’s research in clinical nutrition has had an incredible continue to make the time for this groundbreaking work.”
impact on the GFPD, and a recent study could help to In addition to the nutrition study, Bose is a champion
change medical standards for individuals affected by of diversity and inclusion work, particularly for scientific
peroxisomal disorders. research.

“This complex nutrition study will set a new trajectory “We know that disparities exist for our children based on
for dietary assessment for patients with a peroxisomal their diagnosis,” Bose said. “But there are also racial and
disorder,” Bose said. “There wasn’t much research before ethnic disparities, socio-economic issues and more that
this study. We are looking at how various diets affect the we have to address.

8 GFPD Impact Report 2022

“While we have unique GFPD Medical and
challenges, our work will be a Scientific Advisors
resource for all rare diseases.
Mei Baker, MD, FACMG
The GFPD will have a truly University of Wisconsin
global and universal impact.”
School of Medicine
Additionally, we need more clinicians and scientists of Mousumi Bose, PhD
color - people who represent these communities - to Montclair State University
have more effective outcomes.” Nancy Braverman, MD, MS
Bose also serves on the GFPD’s Diversity Committee,
believing the inclusion work could have implications McGill University
throughout the scientific community. Joseph Hacia, PhD
“There is so much potential here,” Bose said. “We University of Southern California
have so much data. We have a grasp of our diversity. Femke Klouwer, PhD
It doesn’t stop here. I hope we find more funding to University of Amsterdam
reach a larger and more diverse population for this
study and others.” Ann Moser, BA
Bose believes that we are beginning to “think outside Kennedy Krieger Institute
the box,” with regard to research, particularly in the
work of equity and inclusion. Gerald Raymond, MD
“Our Medical and Scientific Advisors are doing so Johns Hopkins University
much to help educate professionals and eliminate
disparities and other barriers to care,” she said. William Rizzo, MD
“While we have unique challenges, our work will be University of Nebraska Medical Center
a resource for all rare diseases. The GFPD will have a
truly global and universal impact. And inclusion must Eric Rush, MD, FAAP, FACMG
be baked into everything we do. We can’t just check University of Missouri - Kansas City
boxes. Inclusivity must be the default.”
Michael Wangler, MD, MS
Baylor College of Medicine

Hans Waterham, PhD
University of Amsterdam

To read the complete bios of our
scientific advisors, please visit:
https://thegfpd.org/scientific-advisory-board/

GFPD Impact Report 2022 9

HOPELEADING with

David Lapidus joined the GFPD’s “If we can’t change the “If we can’t change the
board of directors in 2018 after peroxisomes, we need peroxisomes, we need to focus
a chance encounter with to focus on the resulting on the resulting issues from the
executive director and co-founder, issues from the disorders. disorders,” Lapidus said. “If we
Melissa Bryce. If we can increase positive can increase positive clinical
clinical outcomes for outcomes for our patients, this
“Truly, it was after a yoga session our patients, this could could transform the treatment of
at the Global Genes conference,” transform the treatment these diseases.”
David said. “I live in Oklahoma City David said that working together
and I heard Melissa mention Tulsa. of these diseases.” with the GFPD’s Medical and
Within minutes she was asking Scientific Advisors, particularly
several questions. The conversation DAVID LAPIDUS with Dr. Joe Hacia, has helped
accelerated. And here I am.” Board of Directors create a scenario where these
are “appealing diseases for
David’s professional work is as an research and scientific work.”
advisor to pharmaceutical companies “Joe’s work on mouse models
on trials and drug development for has been groundbreaking,”
rare diseases. Using epidemiological Lapidus said. “Because of the
and other demographic data, he organization’s dedication to
helps manufacturers investigate the research and science - along with
feasibility for various medications our incredible patient advocacy
and trials for those affected by rare - we are front-and-center for
diseases. many pharmaceutical companies
dedicated to rare disease therapy
This is somewhat niche work, but development.”
David’s stature in the rare disease David believes the GFPD now has
community and his spheres of “the attention of the scientific
influence with pharmaceutical community.”
makers could have an astonishing, “I am passionate about a number
transformational impact on GFPD of things,” David said. “I love
Warriors and their families. baking, classic cars and yoga.
But I’m really deeply committed
“Right now is an exciting time for us,” to the work of the GFPD, our
Lapidus said. “With advances being mission and the passion of our
made that will directly impact the board and team who improve
patients with peroxisomal disorders.” the lives of our patients and
families.”
David believes that the goal must
focus on development of therapies
for children with the disorders.

10 GFPD Impact Report 2022

Tee It Up! Trekking for Thomas Hues for Hope

The Great MassabeSEEK GFPD Walk Run Ride

Our GFPD

FUNDRAISING CHAMPS

Thank you to the amazing work of the Chapman family in Illinois for raising their millionth dollar at
the annual “Tee it Up” golf tournament.
We also thank the Martinelli family of Dallas for their work on “Trekking for Thomas: The Concert
Series,” a fun party and concert that raised over $60,0000 for the GFPD.
Jen Kerckhoff led the “Hues for HOPE” fundraiser, in Tulsa, Oklahoma for a sixth year. Hues for HOPE
is an art auction and event that raises more than $150,000 annually for the GFPD.

“The Great MassabeSEEK” was hosted on September 25, 2022 at the New Hampshire Audubon
Massabesic Center. The event is hosted annually by Kelley Hobbs, mother of GFPD Warrior, Dillon, and
includes a scavenger hunt and other family-friendly activities.

Finally, thank you to all our GFPD families that participated in the “GFPD Walk Run Ride”
September 30th - October 2nd!

GFPD Impact Report 2022 11

HOPEADVOCATE for

SUPPORT NEWBORN SCREENING RESEARCH APPROPRIATIONS 2023 POLICY WORK GROUP

One of the pillars of the Global The GFPD has also asked the federal In 2023, the GFPD will convene
Foundation for Peroxisomal Disorders’ government to continue the support a Work Group comprising board
public policy initiatives includes of vital federal research through members, healthcare policy experts,
supporting universal newborn funding and other appropriations to the scientists, medical providers and
screening for genetic diseases. The National Institutes of Health, Food and family advocates to begin working
GFPD has helped lead advocacy Drug Administration and the Centers on a more comprehensive policy
initiatives through the United States for Disease Control. platform and agenda. Health care is
at both the federal and state levels. Much of the funding the GFPD complicated, particularly in the United
Over the past several years, the GFPD provides comes from the generosity of States. Beyond research and screening,
has devoted significant resources to individual, corporate and foundation we know that our efforts must be
enacting the reauthorization of the donors. Our hope is that through fortified in the coming years to ease
Newborn Screening Saves Lives Act: federal funding initiatives, we can both care and financial burdens on the
(S.350/H.R.482). This would devote increase the impact of research to families we serve. By identifying key
funding and resources nationwide bolster the clinical outcomes and policy initiatives at the federal and
to newborn screening. Currently, this prognoses of our GFPD Warriors and state levels, the GFPD and its allied
bill is stalled in committee due to a the families and professionals who care organizations can build a successful
procedural amendment. for them. coalition to change the trajectory for
persons living with rare diseases.

EDDIE DAY | Nashville,TN ABBY PELSTER | Lincoln, NE
“I’m an advocate to bring awareness “Through my experiences as a
to our leaders that rare diseases are speech-language pathologist and
not really that rare. I plan to share the as a volunteer with the GFPD, I
impact that Newborn Screening has have come to realize the plethora
had on my family and that it saves of challenges and needs brought on
untold dollars from being wasted on by a rare disease diagnosis, which
impact every moment of those
unnecessary testing.” affected and their families.”

DELPHINE JACKSON | Portsmith, VA CORIN CHAPMAN | Bloomington, IL
“When asked by Cyrena to participate in Rare Given the limited resources currently
devoted to rare diseases, there is an
Disease Week, I didn’t hesitate to say yes! immense opportunity for improved
Her family trusted me with the care of their research and treatments within our
angel and I’m here to support her as she share community.

Taressa and her family’s story.”

The GFPD will once again be participating in Rare Disease Week on Capitol Hill in early March.
If you are interested in joining our team, please email: [email protected]

12 GFPD Impact Report 2022

An INVESTMENT into

HOPE

Each year, the Global Foundation for Peroxisomal Disorders secures
funding to support patient and family programming, educational
initiatives, medical research and programming to support caregivers
of Warriors affected by peroxisomal disorders.

Individuals, corporations and foundations the feedback from these events has been SPECIAL THANKS TO:
have been a critical part of the GFPD phenomenal. Our families have done
donor landscape. But in late 2021, the astonishing work to leverage community Peter Hopkins Foundation
organization received one of its most support from across the country and Kathleen Craft Mowry Family Foundation
significant and prestigious grants to world. We are ending 2022 in a very strong Bryant Bridge of Hope Foundation
date from the Chan Zuckerberg Initiative. financial position.” Good Rx
Developed by Dr. Priscilla Chan and Mark Bryce said that the investments over the The Dallas Foundation
Zuckerberg, the fund invests in various past year will help to fund even more The Texas Irish Foundation
patient-led rare disease organizations programming in 2023 and beyond. Erica Golle
around the world. This last year, the GFPD “We hosted a very large conference in David Lapidus
applied to be a part of a large cohort of June in Charlotte,” Bryce said. “Additionally, Josh and Caiti Mateffy
organizations as part of the initiative. we are exploring some online medical Todd and Corin Chapman
“This was an incredible opportunity for education tools for our scientists and Brian and Maggie Tims
the GFPD,” Melissa Bryce, co-founder medical professionals to continue more Chad and Becky Johnson
and executive director explained. “Our education into peroxisomal disorders. We Kelly and Matt Hubschmitt
work over the past 12 years to support are going to continue with our patient and Chris Ostertag
families, educate medical and scientific family support programming and hopefully Meghan Meyers
professionals and fund research is a good add more resources for families.” Carolina Alfaro
fit for the initiative.” Bryce also noted that a new website and Natalie and Phillip Clouse
“The $50,000 grant we received from CZI an expanded social media presence were First MidState, Inc.
has been transformational for the GFPD,” on the horizon. Lauren and Dave Sherry
Bryce said. This grant will help us fund the “Gifts from foundations like the Wally and Betsy Bryce
support and educational programs that Chan Zuckerberg Initiative will have Richard and Rhonda Bryce
have set the GFPD apart as one of the a tremendous effect on our future Pam and Terry Carter
preeminent rare disease organizations in programming,” Bryce said. “And through Renaissance Charitable Foundation
the world. In addition to the CZI grant of better technology, we will continue to Janet Carlson
$50,000, Bryce noted it had been another deliver services to all of our Warriors, The Irvin and Sharna Frank Foundation
record year in fundraising and resource families, scientists, medical professionals The Moore Charitable Family Fund
development for the GFPD. and advocates. This is an exciting time Scott and Allison Moore
“Post-Pandemic we have been able to for the GFPD thanks to our incredibly Melissa Bryce
host a number of our fundraising events. generous supporters.” Joey and Paige Bryce
It was great to be back in person, and The Fred and June MacMurray Foundation
Magellan Midstream Partners, LLP
OUR PARTNERS: Rusty Keely
Dr. Joe Hacia
Joe and Colleen Gold
Luxe Furniture
The Keely Companies
Janssen
Gallagher Risk Management

GFPD Impact Report 2022 13

INVESTMENTS IN SCIENTIFIC INITIATIVES 2010

THE GFPD VALUES INCLUSION AND COLLABORATION. Since 2010, we have developed research
partnerships with The Wynne Mateffy Research Foundation, The Peter Hopkins Foundation, and RhizoKids
International. Our partners are aligned to push ahead promising treatments for peroxisomal disorders in
the Zellweger spectrum and the related single enzyme deficiencies. Leveraging the resources of multiple
organizations allows progress on treatments to be greatly accelerated- all to improve the quality of life for
patients living with a peroxisomal disorder.

RETINAL GENE THERAPY ANIMAL DEVELOPMENT

Catherine Argyriou, PhD | McGill University Joe Hacia, PhD | University of Southern California
2016 – $26,000 (GFPD & WMRF) In-Kind Research

PURPOSE | Seed funding for two-year study PURPOSE | This project required no GFPD nor research partner
relating to gene therapy for Zellweger Spectrum investment. Dr. Hacia created a robust network of investigators
and to facilitate pre-investigational new drug (Dr. Quilong Ying, University of Southern California, and Dr.
meetings for retinal gene therapy for PEX-1. In Cathleen Lutz, Jackson Labs) and leveraged their existing NIH
2017, Team Braverman was the winner of the funding to create animal resources for peroxisomal disorders.
Amorchem Knock-Out competition which Dr. Hacia recently secured a prestigious R24 grant from the
provided $500,000 CAD to continue this work. NIH to continue this work developing more animal models for
Drs Braverman and Argyriou are currently looking peroxisomal disorders and other rare diseases.
for additional funding or investment to continue
this work. NIH/NCATS FELLOWSHIP

DIOSMETIN 2017- 2019 – $216,000 (GFPD & WMRF)

Nancy Braverman, MD | McGill University PURPOSE | GFPD grants funded a multi-year post-doctoral
2017 – $60,000 (GFPD & WMRF) fellowship for research at the National Center for Advancing
Translational Sciences (NCATS) one of the seventeen Institutes
PURPOSE | The first aim of this grant was to of the NIH. Dr. Jim Inglese and Dr. Joe Hacia mentored fellow
determine the most effective drug dose and route Di Wu as she completed high-throughput drug screening to
of administration for betaine, diosmetin and uncover therapies for individuals with peroxisomal disorders.
combination therapy with both drugs. The second Di’s work focused on the development of assays used in the
aim was to perform a four-month efficacy study assessment of drugs, investigational agents and genetic factors
using the optimal dose and route determined, and for the ability to improve peroxisome functions in cultured
assess electroetinogram (EFG) responses, liver cells obtained from patients with peroxisomal disorders. Dr.
histology and peroxisome biochemical functions Hacia and Dr. Inglese are now looking for a new post-doc to
as clinical endpoints. take over this work at NCATS.

M E TA B O LO M I C S

Michael Wangler, MD | Baylor College of Medicine

2018 – $75,000 (WMRF, RhizoKids International,
& GFPD)

PURPOSE | Dr. Wangler’s grant developed a metabolomics
resource which will be available in an open source data set
to the research community. Dr. Wangler is currently writing a
paper to share these findings.

14 GFPD Impact Report 2022

- 2022 BY THE GFPD AND OUR RESEARCH PARTNERS

As a result of the tireless efforts of the GFPD Medical and Scientific Advisors, especially Dr. Joseph Hacia
of the University of Southern California, immense progress was made in the last twelve years, leveraging
in-kind research donations from academic institutions, physicians, scientists, and government organizations.
The value of these in-kind (gratis) research contributions cannot be understated. The GFPD expresses our
immense gratitude, not only to Dr. Hacia, but also to every scientist, physician, lab technician, donor, and
nonprofit partner that helped push ahead research in the last 12 years.

N E U R O D E G E N E R AT I O N E X P LO I T I N G
AND VISION LOSS MITOCHONDRIAL QUALITY
CONTROL
Joe Hacia, PhD | University of Southern
California Esther Nuebel, PhD | University of Utah
2013-2019 – $275,776 (GFPD, WMRF, 2018 – $70,000 (GFPD & WMRF)
& Peter Hopkins Foundation)
PURPOSE | This grant aimed to understand if
PURPOSE | The long-term goal of this grant peroxisome function can be improved by improving
was to focus on accelerating the discovery and mitochondrial function.
clinical testing of small molecule, gene and
cell-based therapies for PBD-ZSD with a special GENE THERAPY FOR
focus on slowing or halting vision loss and HEARING LOSS
neurodegeration.
Gwen Géléoc, PhD | Harvard University
CNS GENE THERAPY 2018 – $70,000 (GFPD & WMRF)

Ryan Butler, PhD | University of Texas- PURPOSE | This grant aimed to investigate the efficacy
Southwestern of gene therapy for inner ear for peroxisomal disorders
2018 – $62,000 (GFPD & WMRF) in the Zellweger spectrum.

PURPOSE | Dr. Butler’s grant aimed to develop
viral vectors for potential gene therapy programs
in mouse models for peroxisomal disorders,
specifically targeting the central nervous system.

“The GFPD is a scrappy organization.

We can make those donations go so much

further than you would think possible.”

– Corin Chapman, mom to GFPD Warrior, Max

GFPD Impact Report 2022 15

2021 AUDITED
FINANCIAL STATEMENT*

ASSETS $1,126,842
Current Assets 1,681

Cash 42,786
Accounts and Contributions Receivable –
Prepaid Expenses
Certificates of Deposit 2,609
Inventory 1,173,918
Total Current Assets

Furniture and equipment 10,032
Less accumulated depreciation (7,234)
Net furniture and equipment 2,798

Total Assets $1,176,716

LIABILITIES AND NET ASSETS

Liabilities $30,997
Accounts Payable 1,925
Accrued Liabilities

Total Current Liabilities 32,922

Net Assets 784,325
Without donor restrictions 359,469
With donor restrictions 1,143,794

Total Net Assets

Total Liabilities & Net Assets $1,176,716

*Stanfield + O’Dell
Audit on file

16 GFPD Impact Report 2022

STATEMENT OF ACTIVITIES 2021

REVENUE 341,875
Grants and Contributions 325,005
Fundraising Events
net of direct expenses of $43,644 14,678
Government Grants 3,994
Other Income –

Net assets released from restriction

TOTAL REVENUES 685,552

EXPENSES 258,307
Program 76,261
Management and General 129,225
Fundraising

TOTAL EXPENSES 463,793

CHANGE IN NET ASSETS 221,759

NET ASSETS 922,035
Beginning of year $1,143,794
End of year

GFPD Impact Report 2022 17

Meet the

GFPD TEAM!

KATIE SACRA

DIRECTOR OF OPERATIONS AND FAMILY PROGRAMS

MOTHER TO GFPD WARRIOR TJ
FAVORITE THING TO DO WHEN NOT WORKING:
Reading a good book or enjoying delicious food with her friends while
sitting by the water!

Katie has over 20 years of experience in healthcare administration
and 22 years lived experience as a parent and caregiver to an adult
son living with a peroxisomal disorder. She is passionate about
empowering others through advocacy, family support, and working
with patients and families to bridge the gap between the family
and professionals. She believes no one should feel isolated and
helpless after a rare disease diagnosis, leading her to work towards
empowering and connecting others.
Katie has a unique blend of experience, including training in leadership,
deafblind intervention through East Carolina University, advocacy
and lobbying, person-centered planning and facilitation through
Perkins School for the Blind, customized employment, communication
though touch, calendar systems, and is also certified as a Peer Support
Facilitator providing and facilitating support for GFPD families, as well
as a First Generation Sibshops Facilitator providing support to siblings
of brothers and sisters of individuals with peroxisomal disorders.
In addition to her work directly with families in The GFPD community,
Katie also brings awareness of The GFPD to outside organizations
and governmental groups. Katie has been a prominent figure in our
work at Rare Disease Week on Capitol Hill each February. She has
spoken directly with legislators to advocate for change to the newborn
screening process and increased research for rare diseases. She recently
presented at the 2022 Simons Searchlight Family and Research
Conference. Katie’s presentation was titled “Self-Care for The Caregiver:
Why it Matters and How to Cultivate Opportunities to Make It Possible!”
something she knows much about through her work with our families,
as well as being a Warrior parent herself.
Katie is an integral part of the GFPD team and her work helps bridge
the gap between families and the resources they desperately need.
Thank you Katie, for your years of service to the GFPD and our families.

Thank you Katie for being a valued member of the GFPD team!

18 GFPD Impact Report 2022

BOARD OF GFPD TEAM
DIRECTORS
MELISSA BRYCE
K E L LY Executive Director
DAUER-HUBSCHMITT [email protected]

Chair JACKIE BROOKS
Chief Financial Officer
CHAD JOHNSON [email protected]
Vice-Chair
KATIE SACRA
BRIAN TIMS, CPA Director of Operations
Secretary and Treasurer
and Family Support
CAROLINA ALFARO [email protected]
CORIN CHAPMAN
NATALIE CLOUSE DAN BILLINGSLEY
Strategic Advisor
ERICA GOLLE
JOHN MATTEFY [email protected]
CHRIS OSTERTAG
DAVID LAPIDUS MARGARET REIMANN
MEGHAN MYERS Creative Team Manager
[email protected]
MELISSA BRYCE
Executive Director

(ex-officio)

COMMITTEES OF THE GFPD

Community Advisory Council Finance Committee

Conference Planning Governance Committee
Committee
Medical and Scientific
Development Committee Advisors

Diversity Committee Scientific Initiatives
Committee

To get involved and join a GFPD Committee,
please contact Melissa Bryce
at [email protected]

GFPD Impact Report 2022 19

PAUSE FOR THE GFPD

#PBDWarrior #GFPDWarrior PEROXISOMAL DISORDER TERMINOLOGY
#PauseforPBD #PauseforTheGFPD
PEROXISOMAL DISORDERS

A new era of scientific terminology and GFPD PEROXISOMAL BIOGENESIS SINGLE ENZYME/
community inclusiveness DISORDERS (PBD) PROTEIN DEFICIENCY DISORDERS (SEPD)

With groundbreaking research on peroxisomal disorders, ZELLWEGER RHIZOMELIC ACYL-COENZYME D-BIFUNCTIONAL X-LINKED ALPHA-
there has been an evolution of peroxisomal disorder A OXIDASE1 PROTEIN ADRENO- METHYLACYL-COA
terminology. When the GFPD was founded 10 years ago, all SPECTRUM CHONDRODYPLASIA DEFICIENCY LEUKODYSTROPHY RACEMASE (AMACR)
peroxisomal disorders were grouped into the abbreviation DISORDER (ZSD) PUNCTATA (RCDP) DEFICIENCY (DBPD) (X-ALD)
“PBD” for “peroxisomal biogenesis disorder.” (ACOX 1) DEFICIENCY

Thanks to the dedicated medical research community, we ACYL-COENZYME ADULT REFSUM OTHER
now have a better understanding of the types of peroxisomal A OXIDASE2 DISEASE SEPD’S
disorders, what they have in common and what their
differences are. DEFICIENCY
(ACOX 2)
Our unique community of newly diagnosed, experienced
and bereaved families deserve a name and awareness HISTORIC PBD-ZSD TERMINOLOGY
that encompasses every person affected. We hope that our
updated names will accurately represent our wonderful PEROXISOMAL BIOGENESIS DISORDER - ZELLWEGER SPECTRUM DISORDER
community for an inclusive future.
ZELLWEGER NEONATAL INFANTILE HEIMLER
SYNDROME ADRENO- REFSUM SYNDROME
LEUKODYSTROPHY DISEASE (IRD)
(ZS) (NALD) milder phenotype
milder phenotype
most severe mid-spectrum

Your donation funds research, champions scientific collaboration, and
supports families facing peroxisomal disorders around the world.

thegfpd.org/donate

CONTACT See More From The GFPD!

P.O. Box 33238 thegfpd.org
Tulsa, OK 74153

EMAIL: [email protected]
PHONE: (918) 998-5798
FAX: (918) 516-0227