Ilyce and Max Randell have represented our battle to save the children battling
Canavan disease on national shows including: Dateline NBC, Leeza, Montel, NBC, FOX, ABC, WGN CBS News and Live with Regis and Kelly. We
have won the 'Make A Difference Day' Award as well as the National Diet Rite Cola Zero Boundaries Award for our dedication to the children
battling Canavan disease.
Our mission to cure Canavan disease has also been featured in the Philadelphia Inquirer, Washington Post, the Chicago Tribune, Pioneer Press, CJN, Daily Herald, JUF, as well as newspapers worldwide.
At 21, Max continued to make appearances helping to raise awareness of Canavan disease and the desperate need for funding to support life saving medical research.
Message to our community with some very encouraging
news from Aspa Therapeutics:
This informational report from
Aspa was independently reviewed and approved by the IRB (Institutional
Review Board) prior to its release.
"Dear Canavan
community members,
The Aspa Therapeutics team would like to share
some preliminary observations from CANaspire, Aspa’s clinical trial of
intravenous (IV) AAV9 gene therapy for Canavan disease. As a reminder,
the aim of Aspa’s investigational gene therapy is to provide a healthy
copy of the ASPA gene in order to restore the function of ASPA protein
that is missing or impaired in Canavan disease. The lack of ASPA
protein activity in Canavan disease prevents breakdown of a substance
called N-acetylaspartic acid (NAA), leading to extremely high levels
of NAA in the brain and other parts of the body. After treatment, the
measurement of NAA levels in different locations in the body can tell
us whether ASPA protein is now present and doing its job to break down
NAA --- and if so, where and how much. The hope is that restoring ASPA
protein function will ultimately lead to improved brain development
and function in children with Canavan disease.
While it is too
early to comment on potential clinical or functional effects of our
investigational gene therapy, thus far there has been no reported new
onset or worsening of epileptic seizures that are a common feature of
Canavan disease and tend to intensify over time in most patients.
An initial comparison of CANaspire participants’ pre- and
post-treatment NAA levels shows a substantial decrease in NAA in the
cerebrospinal fluid (CSF, the fluid bathing the brain and spinal
cord). These CSF results are consistent with NAA reductions seen in
the brain itself as measured by magnetic resonance spectroscopy (MRS),
a kind of brain imaging. Reductions in NAA in the urine have also been
observed. Taken together, these findings are consistent with the
presence of functional ASPA protein in the brain and other parts of
the body; however, the results are preliminary and require
confirmation based on more participant data and longer follow-up. The
treatment also has shown a favorable safety profile to date and has
been well tolerated with no serious events either related or unrelated
to the treatment.
The Aspa Therapeutics team is encouraged by
these initial findings and wanted to share them with the community as
we pledged to do at the outset of CANaspire. However, we all must
remember that the trial is still in its early days and no conclusions
can be drawn from the results thus far. We look forward to updating
the community as the trial progresses and as we obtain more data on
current and future study participants.
Please feel free to reach
out to patientadvocacy@aspatx.com with any questions. More information
about Aspa’s gene therapy program for Canavan disease and the
CANaspire trial can be found at www.treatcanavan.com.
Sincerely,
The team at Aspa Therapeutics, a BridgeBio affiliate company"
2021 End of the year update for our families,
benefactors and supporters:
This has been a milestone
year for Canavan disease. We have two separate gene therapy trials in
progress, another in the pipeline and two other teams working on
preclinical testing. It's taken me twenty four years of working every
day to get to this point. I could never have predicted so long ago
that we'd be where we are today. This amazing progress would not have
been possible without the help of thousands of people along the way.
Help has come from our community, politicians both locally and on
Capitol Hill, the FDA, NIH, NINDS, my own family, and other affected
families who joined our mission and helped raise money to fund new
projects.
Over the past twenty four years the Canavan and
ultra rare disease space has grown, changed and evolved. I have
learned so much, so many things I never anticipated I'd need to learn.
From hosting fundraisers and family networking events, creating and
running a charitable organization, becoming a grass roots lobbyist and
political activist, to working with every stakeholder in the Canavan
community from small start-up biotechs to huge multinational
pharmaceutical companies. I was able to create and launch the world's
first patient registry for Canavan disease and this in turn helped
attract many new people to work on developing therapies to help our
precious children. Most of this was done while caring for Maxie and my
other child full-time, largely on my own. Sometimes it feels
impossible to go on with this mission since Maxie's unexpected passing
on April 18th, 2020, but he knew that his life and journey were an
inspiration to so many people and I continue this work holding his
love in my heart as motivation to push forward.
As things have
evolved over the past few years my work has been focused more on
patient advocacy and representing the voice of our community to people
who are interested in helping our children. It has become commonplace
for companies to work with advocacy organizations, so we are
continually adapting our mission to best suit the direction of
research and drug development for Canavan disease. And my role in this
organization has evolved, grown and changed along with the Canavan
space.
With so much success behind us it would be easy to slow
down, or take a break from this emotionally exhausting work, but we
are still years, possibly decades away from the cure. We have been
able to make quality of life improvements for patients living with
Canavan disease using a combination of therapies. Some children will
age out of eligibility for gene therapy which has shown some potential
to help slow progression of the disease and improve the quality of
life for patients. Watching children age out of being candidates for
gene therapy is absolutely heartbreaking for me. I wholeheartedly
believe there is sufficient data to show that gene therapy can help
some patients living with Canavan disease, but with with that being
said it is time to move beyond gene therapy and aggressively search
for teams working on other novel approaches. After twenty seven years
and several different technologies, gene therapy is still not
delivering the results that look like it alone could be the cure. I
fully support gene therapy because it seems to help, but looking at
the clinical results in patients treated anywhere from several years
to eight months ago the outcome as of now is extremely underwhelming.
I went through two separate gene therapy trials with my own son and he
showed some improvement, and I am thrilled for anyone fortunate enough
to be able to get this treatment for their children. Unfortunately
it's not even close to being a cure, and after twenty seven years the
research doesn't appear to have made much meaningful progress as it
pertains to improvements in treated patients. Gene therapy does appear
to help and cures can take several decades to develop, but they can
also involve a combined approach. If gene therapy alone will not move
us towards a cure, and personally I don't believe it is enough, we
need to look at other options. Putting all your eggs in one basket is
never the best approach. So while we have at least five or six teams
that I know of working on clinical trials, or moving towards the
clinic, they are all using different types of gene therapy. You can
only reinvent a broken wheel so many times before saying "maybe this
is not the miracle we hoped for, or perhaps we need to look beyond
gene therapy." Sometimes we get so close and personally attached to a
project after investing decades of our life and millions of dollars it
can become our sole focus because we believe in it so much, and we
want it to work so badly that we blindly direct a majority of our
resources to it. It's hard to move past something we want and believe
in so much, but those emotions can make it hard to see the bigger
picture. And at that point we need to take a giant step back and start
looking at other options.
We are possibly missing a huge part
of the Canavan puzzle. I have spoken with other teams and no one can
say for sure whether another gene could be mutated, or contributing to
disease progression. After identifying the ASPA mutation on chromosome
17 we have focused solely on that one gene. There are types of cancer
that have several genes involved. It is time to take that step back
and study the pathology of Canavan disease. We need to look more
closely at this disease outside the scope of testing different gene
therapy models on mice and children. We need to find the missing
pieces of this puzzle. We have already cured hundreds of mice with
gene therapy, but not one single child.
My hope is that one of
the ongoing trials will still surprise me and deliver a more
meaningful result than anticipated, but I will not gamble the lives of
our children on that hope. The next phase of my mission will focus on
directing funds to teams working on studying the pathology of Canavan
disease and finding methods to treat it beyond replacing a single
gene. I will continue to support every team and stakeholder working on
gene therapy, even new ones, but it's time to expand our efforts to
find the cure in whatever form it may take. I have also been actively
involved in helping to develop a newborn screen for Canavan disease
over the past few years. With more treatment options becoming
available it is more critical than ever before to diagnose patients at
birth and hopefully get them enrolled in clinical trials earlier to
maximize the treatment I will update as more information becomes
available about the newborn test.
I thank each and every person
who has stood by me for so long and I look forward to paving the way
as I direct funding into new areas of research and explore anything
and everything that shows promise to help our children. And I will
never forget the older patients. Canavan is an aging population with
many kids already well into adulthood and those patients are just as
important to me as newly diagnosed babies. My son passed away six
months before his twenty third birthday and even with all my work his
last treatment was at three years of age. I feel in many ways like I
let him down. This is a very personal mission for me. And Maxie's
memory and love give me the strength, inspiration and courage to move
forward and make my way through new and uncharted territory as I
continue to search in every direction for the cure. We accept grant
requests all year long and have an ongoing RFP (request for proposals)
from any team working on Canavan disease, whether it's studying the
disease or gathering pre-clinical data. We are always looking for
projects that need funding or seed money. Please feel free to share
this information, or let me know if you hear of any research in need
of funding. We do our best to search for projects, but it's not always
possible to locate every team or lab in need of funding. I am always
happy to reach out to them personally and see if they need funding to
move forward more quickly, or if they're willing and able to apply
their work on a related disease to Canavan. A personal request and
offer of funding is how many teams begin working on new diseases. It
never hurts to make that plea on behalf of our beautiful children.
To learn more about Canavan disease and our mission, or to make a
donation to help us search for the cure please contact me at
ilyce@canavanresearch.org or visit
www.CureCanavan.org.
With peace and gratitude,
Ilyce Randell
Director of Patient
Advocacy and Cofounder
Canavan Research Illinois/Canavan Disease
Research
#CureCanavan
Announcement from Ilyce Randell:
I am happy to share this exciting update regarding the gene therapy
trial from Aspa Therapeutics/BridgeBio!
"Dear Canavan Community
Members,
Today we are excited to announce the initiation of our
first clinical trial for BBP-812, Aspa’s investigational gene therapy
for Canavan disease.
The Phase 1/2 clinical trial, called
CANaspire, will evaluate the safety and efficacy of a one-time,
intravenous (IV) dose of BBP-812 in children with Canavan disease.
Participant screening will begin immediately at our first clinical
trial site in the United States, Massachusetts General Hospital in
Boston, Massachusetts, and at first will be limited to US residents.
We are working as fast as we can to enable recruitment from outside
the United States and are also working to add additional clinical
sites in the US and abroad.
This milestone is a result of years of
groundbreaking research and development by Dr. Guangping Gao at the
University of Massachusetts Medical School, who has made the fight
against Canavan disease a central focus of his scientific career.
Aspa’s program has included extensive collaboration with Dr. Gao and
his team including Dr. Dominic Gessler, along with other leading
experts in gene therapy and Canavan disease. The combined efforts
contributed to the completion of robust preclinical safety and
efficiacy studies in animals, including mice and monkeys. Most
importantly, this milestone reflects the ongoing support and insights
all of you in the Canavan community have generously shared with us
through our collaboration with patient organizations and families.
We want to highlight a few important details about the study:
BBP-812 will be administered as a one-time intravenous (IV) infusion.
This is a non-invasive procedure.
CANaspire will enroll children
with a confirmed diagnosis with Canavan disease who are 30 months of
age or younger on the expected date the investigational gene therapy
would be given
We anticipate enrolling approximately 18
participants.
We plan to begin screening participants who live
outside the US as soon as possible, and will alert the community when
this occurs.
There is no cost to participants or families for
participating in the study.
Aspa will pay all travel costs to and
from treatment sites for patients and their families.
We
recognize that parents and caregivers of older children are also very
interested in this treatment. Once we are able to see data in some of
our initial patients and have a chance to review that data, we will
work together with regulators and study investigators to create
opportunities for older Canavan patients to receive BBP-812 as well.
We understand the urgency for all patients, and are proud that
BBP-812 has been granted Fast Track designation by the FDA.
If
you are interested in learning more about CANaspire, please visit
clinicaltrials.gov to find the CANaspire listing. There you will find
additional details on the inclusion and exclusion criteria You can
also contact the Canavan Disease Study Team at +1.833.764.2267 or
+1.617.861.4617 or email CANaspire@aspatx.com.
Investigators
at the clinical sites will be responsible for participant screening
and selection. Members of the Aspa team are not involved in the
selection of individual trial participants.
As with any
investigational therapy, there are risks that your child’s physicians
and the study investigators will discuss with you. The initiation of
CANaspire marks an important step forward in our mission to develop a
potential treatment that will improve the lives of as many children
with Canavan disease as possible.
As we move forward in this
journey, we will share relevant information and program updates
whenever we are able. Visit treatcanavan.com to stay connected and to
learn about gene therapy.
On behalf of the Aspa Therapeutics
Team,
Eric M David MD JD
CEO"
Thank you to everyone
who has supported the mission of Canavan Research Illinois/Canavan
Disease Research. Whether you are just joining our mission or have
been with us from the beginning almost twenty four years ago, this
progress would not be possible without our community of donors,
sponsors and benefactors!
Canavan Research Illinois is a research partner with:
Local High School Wrestler Inspired by his Brother - WGN Television:
The Randell brothers' dual stories of determination:
https://wgntv.com/2019/07/07/local-hs-wrestler-inspired-by-his-brother/
Family of Teen Wrestler Fights Hard to Beat Odds -
Patch News:
https://patch.com/illinois/buffalogrove/family-teen-wrestler-fights-hard-beat-odds?fbclid=IwAR0TnkFvgJQMcsg2TtBfdaqbUyESYvNGzz6VQnwDyqxiElQWoWgvByQGKhg
October is 'Canavan Disease Awareness Month'
Ilyce Randell also writes and contributes stories for
publication to The Mighty.
As the parent of an affected child she uses her experience to help other families affected by Canavan
disease.
The 22nd Annual Canavan Charity Ball will
be held on Saturday, October 17th, 2020 at the
Chicago
Marriot in Schaumburg, Illinois.
Click here for more information.
2021 Spring Update:
Dear friends, family, and supporters,
As most of you probably
know we've had to cancel all in person events for 2020 and 2021 due to
the global pandemic, but we've been extremely busy working from home
advocating for our community, raising funds, developing new projects
and working towards increasing awareness about Canavan disease
throughout the world.
My own son Maxie who passed away
unexpectedly on April 18th, 2020 had received two separate gene therapy
treatments. The first one was at eleven months old, and the second one
was at three years old. Maxie was not cured by these treatments, but
his overall health, motor function and quality of life was improved. He
lived an extremely happy and productive life until he passed away at
twenty two and a half years of age. One of my goals was to ensure that
a third gene therapy trial would begin during his lifetime.
Unfortunately I did not reach this milestone before he passed away, but
I am thrilled to let our supporters know that the research you helped
us pay for with your donations for over twenty years from 1998-2018 has
finally led to the approval of a third gene therapy trial. The first
patient is tentatively scheduled for surgery on April 8th. This is just
ten days before the one year mark of Maxie's passing. I'm absolutely
certain that he will be looking down and smiling, knowing that all of
our hard work, dedication, sacrifices and countless hours spent growing
this organization have finally led to more children receiving gene
therapy. Although the families and handful of children who are
scheduled to receive this treatment don't know our benefactors
personally, it is only because of your tireless efforts, loyalty and
generosity for over two decades that their treatments are being made
possible. Without your long-term financial support the small lab doing
this research would have closed its doors 15 years ago. Your belief in
our mission, the commitment to keeping that lab open and operational,
and all the funding CRI was able to direct there for over twenty years
have finally paid off!
Gene therapy has had many ups and downs.
It's fallen in and out of favor with the public and FDA. Through all
this we never gave up. I saw firsthand how the treatments helped my own
son. I made it my mission to do everything humanly possible to make
this treatment available to more children. Enough people stuck by my
side and believed in my mission and this organization enabling us to
financially support a lab that at times had virtually no other source
of funding. I know Maxie won't be here on earth to see this dream
become a reality when the first child receives treatment. I am certain
he will be looking down and know that he was a leader in this effort by
participating in the early trials, and then by allowing the public into
his life for over two decades. Maxie's journey served as an example and
inspiration for people to keep moving forward even through unimaginable
obstacles.
On behalf of Maxie and Canavan Research Illinois I
am extending a personal "thank you" to every single person who has ever
financially supported this organization in any way. Your donations have
and will continue to help us offer hope and medical interventions to
other families around the world who have children affected by Canavan
disease. When this small group of children receives their gene therapy
treatments we will all know in our hearts that decades of hard work has
finally achieved one more milestone we set out to reach! This is not
something that happened over weeks, months, or a few years. The
research began over 24 years ago, and many of you have been with us
from day one of this marathon of a journey.
There are also
other teams working on gene therapy and different potential treatments
for Canavan disease. We hope to see additional clinical trials in 2021,
and in upcoming years. One of the major roles of Canavan Research
Illinois is patient advocacy. As the landscape in ultra rare disease
research has changed and evolved over the past 24 years, so have the
programs and roles of CRI. We have formed several important
partnerships with other charitable organizations, pharmaceutical and
biotech companies and other stakeholders in the Canavan and rare
disease space.
Another exciting and necessary project we've been
directly involved with for over a year has been to assist in the
development of a newborn screening test (NBS) for Canavan disease. With
potential treatments on the horizon, early diagnosis is more important
than ever before. Medical interventions are believed to be most
effective if delivered before the onset of symptoms. So identifying
affected babies at birth is critical, and we have expanded our mission
to include the development of a newborn screening test for Canavan
disease. This test will also include other related rare diseases. I
will be sharing detailed information about the NBS, and the role of CRI
in our fall newsletter when we have more information about how this
process will work. One of our roles will be to expand our community
reach and fundraising efforts to make sure that families who need this
information are able to receive it before their children are born.
Early detection will become increasingly important as new treatments
and clinical trials become available. CRI has committed to adding this
community outreach program and increased awareness campaign to our
mission. As the Canavan space changes and evolves, so does our role and
mission.
In 2016 Canavan Research Illinois launched the first
international patient registry for Canavan disease. This is still the
world's largest single database of Canavan patients and has been used
by pharmaceutical companies, other advocacy organizations, venture
capitalists and many other stakeholders interested in developing
potential treatment options to help our children. We also continue to
seek out new teams around the world who are in need of funding for
novel research projects for Canavan disease.
Thank you all again
for your tireless support, loyalty and belief in this organization and
our mission. When the next child receives gene therapy after so many
years without any new treatments you will all know that your continued
financial support, and perseverance over the span of two decades made
it possible. I could never have anticipated when I received Maxie's
diagnosis on March 6th, 1998 that what began as an effort to save his
life would have grown into this worldwide advocacy effort. I didn't
plan or expect to still be doing this after Maxie passed away. But this
fight is far from over and everything I do now is in honor of Maxie's
amazing life, inspiring journey, and the unconditional love he shared
with his family and the world. Nothing we've achieved together would
have been possible without your support. We are still desperately in
need of funds after canceling our largest fundraisers two years in a
row. Your financial contributions will enable us to continue our work,
develop new projects, and grow this organization and allow us to evolve
with the ever changing Canavan space. I would never have been able to
do anything without the support of tens of thousands of people around
the world who have supported our mission.
Donations can be made
at www.CureCanavan.org. We also have
acknowledgement cards available for your donations. Please let us know
where to send cards if donations are made in honor or in memory of a
loved one. I invite anyone who is interested in donating in Maxie's
memory to let us know it's in honor of "Maxie Forever".
This
fight is far from over! These recent achievements are not a cue to
rest, but to serve as inspiration to push forward more vigorously, and
with a renewed conviction to our achieve and expand our mission!
With hope and gratitude,
Ilyce Randell
Director of Patient Advocacy
Canavan Research Illinois