SUM M ER 2020 ISSUE NO.

015

RARE
TM

REVOLUTION M agazin e

Sponsor' s
Supplement

Committed to advancements
for the RAREkidney disease
community

RARENephrology
 Sponsor 's
Welcome

In t r odu cin g
RARE Neph r ology

Rare kidney diseases, like primary focal segmen-

tal glomerulosclerosis (FSGS) and IgA nephropathy
(IgAN) have no approved medicines. People living
with these chronic complex conditions face cycles
of remission and relapse, with symptoms that
constrain day-to-day existence and induce anxiety
over progression to end-stage kidney disease.
Rare kidney disease patients and their families
deserve better.
Until very recently, clinical trials in rare kidney
disease were nonexistent. However, recent
government action and a novel clinical trial
endpoint have encouraged more innovation in the
space. The growing recognition of the kidney
disease crisis is fueling innovation and uniting
those working in the field to bring change. Today,
medical professionals, legislators, research Su bscr ibe for your FREE
institutions, advocates, industry, and especially
people living with rare kidney disease are
qu ar t er ly digit al
recognizing the urgency to develop novel m agazin e
therapies that extend beyond the choices www.r ar er evolutionmagazine.com
available today. RARE Revolution Magazine is created and
Dialysis and transplant are not enough. published by NRG Collective

To learn about a community call to action to usher

in a new era of rare kidney disease care, visit
r ar ek idn eyr evolu t ion .com .

This supplement originally appeared in the

Summer 2020 Edition (Issue 016) of
RARE Revolution Magazine

Travere Therapeutics - formerly Retrophin To r ead t h e f u ll RARE Neph r ology edit ion ,
please visit
www.tr avere.com w w w.r ar er evolu t ion m agazin e.com
PAGE 2 RARE NEPHROLOGY

Rare nephrology: growing momentum

in rare kidney disease
Michele Huie is a dedicated team member at Travere Therapeutics, a company whose
mission is to identify, develop and deliver life-changing therapies to people living with rare
disease. The landscape for kidney disease is rapidly changing, as Michele explains

Written by Michele Huie

Travere Therapeutics

For the last 50 years, clinical trials in nephrology were FSGS and IgAN do not respond to currently available
few and those in rare nephrology were non-existent. medications, and for those who do respond, the
Nephrology has the lowest rate of clinical trials of all benefit of therapy can be unsustained.3?6 When
medical fields and the lowest rate of completed trials.1 patients reach ESRD, there are two options for
survival? dialysis or kidney transplant.
?The needs of rare kidney patients are greater than
ever,? says Er ic Du be, Ph .D., pr esiden t an d CEO of For many, life can feel like waiting for the inevitable.
Tr aver e Th er apeu t ics. ?Obstacles impede every step
of the patient journey from diagnostic hurdles, to
providers unaware of rare disease, to the dearth of
effective therapies. We must come together and
innovate to change the devastating course of kidney
disease.?
St r ik in gly u n seen am on gst 780 m illion w it h k idn ey
disease.2
Genetic, autoimmune, idiopathic? whatever the
category? rare nephropathies are overlooked,
underrecognised and understudied.
Rare kidney diseases, like primary focal segmental
glomerulosclerosis (FSGS) and IgA nephropathy (IgAN),
have no approved medicines.
These disorders cause injury to the glomeruli, or
filtering units, of the kidney and are characterised by
decline in kidney function, namely, elevated
proteinuria (protein in the urine), reduced glomerular
filtration rate? and often? progression to end-stage
renal disease (ESRD).
People with rare kidney disease are facing a
As many as 40 to 50 per cent of people living with remarkable reduction in life expectancy and quality of

RARE Revolution www.tr avere.com

PAGE 3 RARE NEPHROLOGY

life.7?8 In a recent study of patients living with The condition can be primary (without any known
glomerular disease who were asked to identify cause), genetic, or secondary? meaning it?s triggered
outcomes of importance to them associated with their by other causes, such as a viral infection, medications,
kidney health, patients described a constrained lymphoma, obesity or surgery. FSGS is more common
day-to-day existence with ?relentless? and ?consuming? in people of African ancestry.10
symptoms that restricted daily activity; loss of social
and work opportunities; and anxiety over mortality,
the need for dialysis or transplant, life participation
and fatigue.9

Diagnosis is a difficult journey. ?The rarity of primary

?Rare patients are our unrelenting focus. The
astounding unmet needs that people living with rare
kidney disease face drive the urgency of our task to
improve the treatment paradigm for FSGS and IgA
nephropathy,? says Dr Dube. ?I have witnessed the
exhaustion and frustration that patients living with
kidney failure experience. We need new therapies that
provide hope, new therapies that stand up to the
onslaught of disease progression.?
and genetic FSGS, coupled with non-specific
symptoms and signs, like fatigue, loss of appetite and
oedema, leads to delayed recognition that this is a
renal condition? and delays referral to a nephrologist,
confirmatory biopsy and treatment initiation,? says
Noah Rosenberg, M.D., chief medical officer at Travere
Therapeutics.
?The burden of disease and the impact on quality of
life are substantial and affect children and adults
equally,? says Howard Trachtman, M.D., NYU Langone
Medical Center. ?But, the adverse consequences of
FSGS do not fall evenly on all groups. Black patients
may be at heightened risk of accelerated disease
progression to kidney failure because of specific
genetic factors such as APOL1.?

Acloser look at FSGS

Focal segmental glomerulosclerosis describes
scattered scarring (focal) that initially affects only a
portion (segmental) of the filtering units (glomeruli) in
the kidney. Damage to glomeruli causes a breakdown
of the kidney?s ability to filter the blood. The damaged
filtration barrier causes the kidneys to leak protein
into the urine.

RARE Revolution www.tr avere.com

PAGE 4 RARE NEPHROLOGY

Treatment aims to reduce proteinuria and blood and high blood pressure. Persistent high levels of
pressure. ?Most patients are prescribed a steroid and proteinuria are sometimes treated with steroids.
ACE inhibitor/ARB combination, leading to a path of
steroid over-reliance as patients cycle between
remission and relapses with few effective and
tolerable options,? says Dr Rosenberg.

?We have a lack of effective and durable treatment

options approved for FSGS and IgAN, resulting in
substantial morbidity and social and economic burden
for patients, their caregivers and healthcare systems,?
?There are no FDA-approved therapies for patients
says Dr Rosenberg.
with FSGS. The unmet clinical need is huge,? says Dr
Trachtman.

Acloser look at IgAN

IgA nephropathy, or Berger ?s disease, is estimated to
affect more than 100,000 people in the US and greater
numbers in Europe and Asia.11 The disease is caused
by a buildup of immunoglobulin A (IgA) in the kidney
which leads to inflammation and damage to glomeruli
causing haematuria (blood in the urine), proteinuria
and hypertension.
Disease progression in IgAN is generally slower than in
FSGS, and highly variable with a five per cent to 60 per
cent ten-year risk of ESRD.12 Agame-changing endpoint
Though IgAN is one of the most common forms of For years, studies evaluating potential therapies for
glomerular nephropathy, detection, especially in early kidney disease relied on hard clinical outcomes such
stages, can be difficult. Many physicians have as ESRD or death as endpoints, undoubtedly
understandably never had to treat someone with this contributing to why nephrology has the lowest rate of
rare condition. completed trials.
There is no indicated medicine for IgAN. The standard In 2018, Travere Therapeutics played a central role
of care is ACE inhibitors and ARBs to lower proteinuria collaborating with the Nephrotic Syndrome Study

RARE Revolution www.tr avere.com

PAGE 5 RARE NEPHROLOGY
Network (NEPTUNE) consortium based out of the
University of Michigan to develop a proteinuria
endpoint to accelerate clinical research in therapies for
rare kidney disease patients.13 Developing a strict
definition of partial remission of proteinuria as a
surrogate endpoint for evaluating potential therapies
has helped clinical trial sponsors explore regulatory
flexibility in nephrology study design. The 21st Century
Cures Act and the Kidney Health Initiative, a
collaboration between the FDA and the American
Society of Nephrology, has created enhanced focus on
the regulatory environment for rare disease research
overall and rare kidney disease in particular. As a
result, at least 19 companies are now conducting 35
trials which offer new hope for families living with rare
kidney diseases such as FSGS, IgAN, minimal change
disease, membranous nephropathy, dense deposit
disease/C3 glomerulopathy, and others.14
?We?re bridging a critical gap in treatment
development for kidney disease. The time it would
take to complete a clinical trial for kidney patients
practically prohibited the development of new
medicines,? says Lauren Lee, national director of
research and engagement at NephCure Kidney
International. ?We?ve reached a moment when
academia and advocacy organisations can explore
ways of bringing potential therapies to help patients
faster. Clinical trials bring hope.?
Federal focus
In the summer of 2019, the US Department of Health
and Human Services (HHS) advanced a vision for
revolutionising the way people with chronic kidney
disease and kidney failure are diagnosed, treated, and
most importantly, live.15 That vision calls on industry,
government agencies, providers and insurers to
improve outcomes for patients and to stave off ESRD.
Significantly, HHS is now engaging with leaders in rare
nephrology to understand the unique challenges
faced by rare kidney patients in diagnosis, treatment
limitations and life impact? and to hopefully develop
policy recommendations to help shift the paradigm of
kidney care treatment to ultimately save the most lives
and federal dollars. Focusing on rare kidney disease
would help HHS meet two of their identified goals:
reducing the risk of kidney failure and improving
access to person-centred treatment options. Finally,
rare nephrology leaders and policymakers are
beginning to work with patient groups on solutions
RARE Revolution
that address disproportionate rates of ESRD and
significant systemic health disparities faced by diverse
populations and communities of colour.
Unity of effort and innovation for patients
This growing recognition of the kidney disease crisis
fuels innovation and unites those working to bring
change. NephCure is increasing visibility of clinical
trials to people living with rare kidney disease through
Kidney Health Gateway; National Kidney Foundation is
bringing awareness of disease prevalence with the Are
You the 33% campaign; the American Association of
Kidney Patients is infusing patient insights in kidney
research as they kick off the Decade of t h e Kidn ey;
leading nephrologists in the non-profit Kidney
Disease: Improving Global Outcomes (KDIGO) are
working to improve day-to-day disease management
through examination of current treatment guidelines;
Black Health Matters is bringing attention to the
disproportionate impact of kidney disease on African
Americans.
Together, medical professionals, legislators, research
institutions, advocates, industry? and especially
patients? recognise the urgency to develop novel
therapies that extend beyond the choices available
today.
?We are humbled by the experience of rare patients
and their families and are compelled to act,? says Dr
Dube. ?At Travere Therapeutics, we?re focused on
improving the years between diagnosis and dialysis or
transplant. We are focused on the children and adults
living with FSGS and IgAN who all deserve better
therapies to protect their kidney function now.?
Dialysis an d t r an splan t ar e n ot en ou gh .
REFERENCES
[1] MKT Chatzimanouil, et. al.JAm Soc Nephrol2019;30:13-22
[2] https://www.kidney.org/kidneydisease/global-facts-about-kidney-disease[Accessed May 29, 2020]
[3] KDIGO Clinical Practice Guideline for Glomerulonephritis. Kidney Int Suppl 2012
[4] Gipson D. Semin Nephrol 2016;36(6):453-459
[5] Coppo R, et al. JAm Soc Nephrol 2007;18:1880?1888
[6] Woo KT, et al. Kidney Int 2000;58:2485?2491
[7]Gipson DS, Trachtman H, Kaskel FJ, et al.Kidney Int. 2011;79(6):678-685
[8] Carter, Simon A. et al.Kidney Int.2019;95(6):1280-1283
[9] Carter,et al. CJASN.2020;15:673-684
[10] Korbet SM.JAm Soc Nephrol.2012;23(11):1769?76
[11] Wyatt RJ, Julian BA.N Engl JMed.2013;368(25):2402?14
[12] Barbour SJ, et. al.JAMA Intern Med. 2019;179(7):942?952
[13] Troost JP, Trachtman H, Nachman PH, et al.Clin JAm Soc Nephrol. 2018;13(3):414?421
[14] Nephcure Kidney International, 2020
[15] Advancing American Kidney Health Executive Order:
https://www.hhs.gov/about/news/2019/07/10/hhs-launches-president-trump-advancing-american-kidney-
health-initiative.html [Accessed May 29, 2020].
PAGE 6 RARE NEPHROLOGY INTERVIEW

SiX-in-Ten
with Lauren Lee

Lauren Lee, executive vice president,

stakeholder engagement, NephCure
Kidney International, talks about the
role of Nephcure Kidney International
in driving progress for kidney disease

Tell me a bit about why NephCure

1. was established and its mission.
NephCure Kidney International was
founded in 2000 by four sets of
parents whose children were
impacted by nephrotic syndrome.
They were looking for answers and
ways to help other families facing
similar challenges of being diagnosed
with a rare kidney disease. Soon after
registering the organisation as an
official 501c3 (non-profit), a group of
them travelled to the National
Institutes of Health in Washington DC
to seek guidance. It was there that
NephCure established itself as a
research-focused patient advocacy
group focused on expediting
treatments to patients living with rare
protein-spilling diseases like FSGS,
IgAN and other forms of nephrotic
syndrome.

RARE Revolution www.nephcure.or g

PAGE 7 RARE NEPHROLOGY
2. Can you describe your new Kidney Health
Gateway initiative regarding clinical trials and
research?
In the last four years, there has been an
explosion in clinical trials for many of these rare,
protein-spilling glomerular diseases. No matter
the disease state, one of the biggest challenges
facing pharma and biotech companies is finding
volunteers to participate in trials. The Kidney
Health Gateway initiative was launched in
response to the current landscape as a
multi-stakeholder, multi-pronged approach to
connecting more patients to clinical research
opportunities by addressing the central barriers
to participation and access.
The most tangible outcome of the Gateway
initiative is the website, which serves as a
patient-friendly clinical trial matching tool.
w w w.Kidn eyHealt h Gat ew ay.com
Beyond the trial finder, the Gateway programme
includes workstreams around the role of renal
pathology, paediatric inclusion in trials, and
creating a research-ready community.
Collectively, Gateway has instilled a newfound
sense of urgency and purpose among patients,
researchers, physicians, industry representatives,
and government agencies, all keen on fulfilling
NephCure?s mission of bringing new treatments
to market.
3. Howis NephSpace benefiting rare nephrology
patients and caregivers?
NephSpace is an online community for patients
and families impacted by glomerular disease.
Accessed through w w w.Neph Cu r e.or g, the site
is a ?walled garden?for patients and their loved
ones to connect privately, share information,
and seek support. For many in our community,
they have never met another person living with
these illnesses due to the rarity in numbers.
NephSpace offers these individuals a place to
go to find others like them and to engage in an
online conversation about medical and
emotional challenges unique to them. In
addition to NephSpace, NephCure staff are
From our perspective, it?s about understanding
RARE
the Revolution
policies that can help leverage our alliance?s
key messages.
INTERVIEW
regularly in contact with patients and family
members on other social media outlets
including Facebook, Twitter and Instagram.
What would you like others to knowabout living
4. with a rare kidney disease?
For families diagnosed with FSGS, IgAN or
another rare protein-spilling disease, their story
is riddled with unique complications that are
often unrecognised or misunderstood by
outsiders.
First, these diseases are ?invisible?other than the
oedema experienced by patients taking
steroids/prednisone. ?You don?t look sick? is a
common refrain from friends and family without
appreciation for the exhaustion, pain and
unseen side effects of the medications many
patients are taking.
Second, in addition to being rare, these
protein-spilling diseases are chronic. Patients
are on a roller coaster between remitting and
relapsing states, affecting them both physically
when relapsing and plaguing them with
emotional anxiety when they are in remission.
Thirdly, there are currently no approved
therapies for these diseases. Instead, physicians
prescribe off-label treatment options that bring
with them a host of side effects and insurance
headaches. And, lastly, one of the most pressing
challenges of living with rare kidney disease is
finding an expert who is well-versed in how
these diseases present and progress. For
anyone diagnosed with FSGS, IgAN or other
forms of nephrotic syndrome, it is so important
to find a specialist. It can truly make the
difference between preserving the function of
the kidneys or quickly progressing to end stage.
How have you partnered with the biotech
5. industry to make a difference to patients?lives?
Wonderfully, NephCure has positioned itself not
only as the home for families and loved ones
living with rare forms of nephrotic syndrome,
but also as an anchor for other stakeholder
groups who are passionate about helping bring
new treatments to patients.
www.nephcure.or g
PAGE 8 RARE NEPHROLOGY INTERVIEW

In recent years, we have deepened our
connections with biotech to educate patients
about the importance of clinical trials as a
symbol of progress and hope, as well as to
connect patients to opportunities they may
potentially qualify for and benefit from as a
participant. Because nephrology is not an
?on-study?specialty, NephCure has worked with
companies to help increase disease knowledge
and trial awareness in both the patient and
physician domains. As a nimble organisation
charged with moving the needle forward on
behalf of our patients, we are grateful for the
support of many industry partners invested in
our programmes and community!
visionary leaders and others genuinely invested
in our mission.
Every day, new patients find NephCure, and
their stories, their worries, their fears and their
courage motivate me to come to work every
day. It is an honour to represent their collective
voice in interactions with doctors, researchers,
government agencies and pharma. Add to this
the incredible progress we?re seeing in the form
of trial opportunities, genetic advancements
and precision medicine breakthroughs. I feel
lucky to be part of such extraordinary forward
movement and a moment in time that has the
potential to be a game changer for rare kidney
patients and families everywhere.

To f in d ou t m or e, please visit
What is your ?why?? (Why do you come to work
6. each day? What is your passion? Your purpose? w w w.Neph Cu r e.or g
What drives you?) an d f ollow u s on ou r socials

Since joining NephCure seven years ago, I have

been fortunate enough to meet so many
inspirational patient families, dedicated doctors,

NephCure has
positioned itself not
only as the home for
families and loved
ones living with rare
forms of nephrotic
syndrome, but also
as an anchor for
other stakeholder
groups who are
passionate about
helping bring new
treatments to
patients.

From our perspective, it?s about understanding

RARE
the Revolution
policies that can help leverage our alliance?s
www.nephcure.or g
key messages.
PAGE 9 RARE NEPHROLOGY
Bor n fighter
Marc Coronel had his sights set on becoming a professional boxer. He was well
known on the amateur scene and pur suing his dreams with passion when a
routine physical examination delivered an unexpected blow that would leave
Marc fighting for his life, leaving him down but most cer tainly not out
It was on his 26th birthday, when on the advice of his
father, Marc went for a routine physical examination
to align with a change in insurance policy. But after he
received an unexpected call back. ?I was advised that
my creatinine levels were elevated, and they wanted to
rerun them to check this anomaly,? Marc explained.
Further investigation and a biopsy resulted in a
diagnosis of focal segmental glomerulosclerosis (FSGS)
kidney disease. Marc was a healthy, active young man
at the peak of fitness as an amateur athlete, so the
diagnosis came as a shock. ?When I look back now I
can see there were signs of the disease before this
point, but I felt in great shape so overlooked them as
being no big deal? frothy urine was something I had
experienced for some time, which I now know to be a
sign of excessive protein in my urea, also called
proteinuria.?
What is FSGS?
FSGS is a rare disease that attacks the kidney?s
filtering units (glomeruli) causing serious
scarring which leads to permanent kidney
damage and even failure. FSGS is one of the
causes of a serious condition known as nephrotic
syndrome.
www.nephcure.org
RARE Revolution
INTERVIEW
Written by Nicola Miller
Editor-in-chief,
RARERevolution
FSGS causes scarring to the kidneys which can lead to
kidney failure. In Marc?s case the biopsy revealed the
presence of scar tissue. In time, as his disease
progressed, Marc found he had gone from a ?fighter
fighting a sport, to a fighter fighting for his life?. After
eight years of managing his condition Marc found
himself in need of dialysis, which would have big
implications for his health and life. ?Dialysis became
everything. Every Monday, Wednesday and Friday I
was in hospital, for hours at a time. As an athlete I was
used to drinking litres of water a day, and now I had to
limit my intake considerably which I found challenging.
I felt I could no longer maintain a normal life which
really depleted me of my soul.?
With Marc?s dream of sporting prowess fading, his
energies turned to staying alive. ?I had to learn to use
my physical and mental strength to beat my
weakness, which in this case was FSGS. One of the
best pieces of advice I was given was to not look at
winning the war, but rather concentrate on the
individual battles, and with the battles seeming
relentless I was grateful for every small victory.?
After a year and a half of dialysis, a decision was made
by Marc?s consulting team that a transplant was the
best option, a decision which would have another
unexpected twist for Marc. ?My dad called me to say I
had a brother? a brother I was until this point entirely
unaware of.? While ultimately, Marc?s long-lost brother
proved not to be a suitable match for Marc, it had
brought the two together in a remarkable reunion, at
a time when family really mattered like never before.
www.MarcCoronel.com
PAGE 11 RARE NEPHROLOGY INTERVIEW

?Dialysis teaches you patience and a transplant

teaches you gratitude,? Marc explains, and gratitude is
?It is about eating the r ight things,
more than a sentiment to him, it is a practice which he looking after your self and making
now builds into his daily life. Less than a year ago Marc
was lucky enough to find his match and be approved
sure you are mentally prepared for
for a life-saving transplant. the fight of your life, for the best
?Post-transplant, I felt improvement immediately? I chance of receiving a kidney.
felt energised; it really was a new lease of life. But it is
important to remember that a transplant is not a cure. "Many don?t appreciate that a
While I may no longer be fighting for my life, it is
important that I maintain my health as best I can and tr ansplant isn?t a done deal. You
make all the right choices to remain in recovery from
my disease.?
have to be approved as being a
Just one month post-surgery, Marc was running again
suitable candidate and this means
and nearly six months in, he now trains six days a patients need to be educated on
week for over two hours a time. While his future may
no longer lay in his being in the ring, he now trains
this fact so that they are in an
others through his lifestyle athletics company which optimum position for this.?
teaches people to achieve wellbeing by connecting
with their physical and mental health through the ?I want to change lives, empower people and show
practice of yoga, exercise and sports massage. others how to harness their own inner strength and
Undeterred he is now building a new dream. vulnerabilities to drive change, while learning how to
count our daily blessings.?
But for Marc his new kidney has given him so much
more than improved health and a return to sport and As a symbol to others of personal growth, Marc sees
work. ?When you experience something like this, it has himself as a spokesperson for those who don?t have a
a profound effect on you, and you really learn to smell
the roses and enjoy the simple pleasures of life. For
almost one and a half years I wasn?t able to urinate for
myself, so the simple act of being able to stand up and
urinate on demand was truly liberating and something
which I, like most, took for granted before my rare
journey?.
?I have learnt what is important in life: you can?t take
wealth and material possessions with you. Your sanity,
soul and being are what truly matter. I have a glow
and an energy now and a gratitude to be alive that I
will never take for granted, and I want to use that to
give hope to others with kidney disease. I have my
career job and I love it, but t h is is my journey.?
By speaking his truth and sharing his vulnerability,
Marc hopes to empower others to live to their fullest
potential with kidney disease.
Marc engages in public speaking and works with
industry and charities to help define the roadmap to
hope for those affected by rare kidney disease. He is
working on a schools programme, as well as
community education and outreach projects, and has
a drive to educate all on his passion.

RARE Revolution www.MarcCoronel.com

PAGE 12

voice in the kidney world, and he wants to take

awareness to the global audience. ?I couldn?t
have imagined I could do so much. To be
talking to a magazine like RARE Revolution
sharing my story to a worldwide audience,
working with non-profit organisations such as
NephCure and the UCLA Core Kidney Program
to reach individuals, and working with industry and
patients, advocating? fighting the fight now for
others? is all incredible.?
Marc uses his growing Instagram following and
podcast channel to engage others in important
discussions around kidney disease and aims to be a
beacon of hope for others on a similar journey.
?Don?t get me wrong. I have down days too, but by
sharing my story and truth, I hope others can see that
it?s ok to have up days, and it?s ok to have down days.
Wh at is im por t an t is t o n ever h ave give-u p days."
When asked how Marc saw his future, one word came Follow Marc
out loud and clear? ?bright!? @kidney_fighter

To learn more about Marc' s mission please visit

www.MarcCoronel.com
and check out his podcast on Spotify: The Kidney Fighter Show

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are In Rare for life.

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on behalf of Travere Therapeutics