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This article was originally was posted at http://www.medscape.com/viewarticle/840206

The National Organization for Rare Disorders
The Importance of Rare Disease Education
Sophia A. Walker

February 25, 2015

Recently a wise professor told my class that we medical professionals are some of the most powerful people in the world. Indeed, we have the ability to meet people at their most vulnerable, sometimes on the very worst day of their lives, and help them. “This profession,” he told us, “is such a privilege that we must never miss the opportunity to have at least done some good for every patient.” Over the past several weeks, as I have planned rare disease awareness events and begun preparing to enter the clinical years of my medical education, I find myself considering these words more frequently. However, at the end of the day, I wonder how powerful we are, really…

My interest in rare diseases originated during my senior year of high school, when I first started volunteering at the National Organization for Rare Disorders, Inc. (NORD). I was overwhelmed to discover the many obstacles experienced by patients who have rare diseases. On a technical level, any disease that affects fewer than 200,000 Americans is considered rare. Of the more than 7000 rare diseases, only approximately 350 have treatments that are approved by the US Food and Drug Administration (FDA). I found that individuals with these diseases, almost two thirds of whom are children, show great courage and perseverance in the face of significant discouragement. Although I had always wanted to be a doctor, it was not until I witnessed such unrelenting determination to overcome barriers in healthcare that I discovered my own enthusiasm for medicine.

All physicians strive to provide attentive medical care with the utmost compassion and empathy; however, as medical professionals, we must also be our patients’ most vocal advocates. Although I was not yet a physician, I still wanted to contribute to this effort. I wanted to provide a forum for the nearly 30 million Americans with rare diseases whose voices often go unheard in the medical community, and I wanted to share this passion with my peers. Every year, my fellow students and I host a Rare Diseases Awareness Event. Patients, students, clinicians, and researchers come together to share their experiences and insights regarding rare diseases. We strive to shed light on the lives of these individuals by allowing them to share their own stories, sometimes for the very first time.

Although many students may assume that we do not need to know as much about rare diseases because we are unlikely to encounter them in our practice, this is simply not the case. In fact, every one of us preparing for medical careers will see patients with rare diseases, and the extent to which we prepare ourselves for this reality will determine the impact we can have on these patients’ lives. Patients who have a rare disease face difficulty in every step of medical care, including diagnosis, treatment, and preserving quality of life. Sometimes, patients go years without receiving the correct diagnosis for their condition. Once they finally have an answer, often no treatment is available for their condition. As future physicians, we must aim to improve these prospects; the first step in doing so involves developing a keen understanding of this patient population.

The opportunities for medical students to learn about rare diseases are vast. Gaining a basic understanding of how the experience of having a rare disease is different from having a more common disease is equally essential. The National Institutes of Health (NIH) has great information related to rare diseases on its website, and the NORD website provides overviews and links to more than 200 patient organizations that provide excellent information about specific rare diseases. Students can also apply for a free NORD student membership by writing to bhollister@rarediseases.org. Once you register, you receive a monthly eNews and quarterly newsletter specifically designed for students planning healthcare careers. If you’re attending the American Medical Student Association annual convention in Washington, DC, on February 27 and 28, come to the NORD booth in the exhibit hall where patients with rare diseases will be sharing their stories.

With each speaker I listen to at a rare diseases event, with each new person I meet, I am filled once again with immense pride that our efforts, if even in a small way, have done some good. Unlike many people who are involved in advocacy efforts in this area, when I began this work, I did not have a personal connection to rare diseases. However, after years of getting to know people who have experienced these struggles, I can say that I now have several. In fact, it is the memory of the individuals I have met and the satisfaction in having contributed to raising awareness that has guided my interests, served as an influence in many decisions, and ultimately has been the driving motivation in achieving my aspirations. With every step I take moving forward in my career, rare diseases comes along with me and will continue to do so.

My passion for rare diseases advocacy has become perhaps the foremost aspect that defines me and has made me who I am. It has given me direction, has made me a leader, and continually prepares me to become one of those physicians who will do some good. A couple of years ago, one of my undergraduate professors asked me, “Are you that rare diseases girl?” He went on to say that a student who had been inspired to research rare diseases after attending my event had approached him with an interest in working in his lab. This is the reason why I raise awareness for rare diseases. If just one more person every year becomes inspired, that may eventually make all the difference in the world. It turns out that, in the end, we are all powerful together. After all, according to the NORD motto: “Alone we are rare. Together we are strong.”®

The Southern California Pemphigus & Pemphigoid Support Group Meeting

was held on Saturday, October 25, 2015 at the Santa Monica Public Library

in the Martin Luther King, Jr. auditorium. Dr. Jennifer Haley, Dermatologist,

Kaiser Permente and Dr. Vanessa Holland, Dermatologist, University

of California, Los Angeles answered questions from patients and loved ones

for two hours. There were 31 people in attendance. Patients asked a lot of

important questions regarding treatments, nutrition, vaccinations, and

on-going research. Also, many engaging discussions with the doctors and

patients occurred. Hearing other patient experiences in dealing with this rare

disease was healing. Afterwards, a lively social gathering was held outside

on the patio with refreshments provided by Biofusion, who sponsored the

meeting. Many came away with new friendships and an enthusiasm for next

year’s meeting.

If you are interested in hosting a support group meeting in your local area

please contact Noelle Madsen at noelle@pemphigus.org.

A group of PEM Friends enjoyed lunch together in London, November

2015. We met to share their experiences and advice. We were particularly

pleased to be joined by Dr. Jane Setterfield, reader and honorary consultant

in dermatology in relation to oral disease at Guys and St Thomas’

Hospital. Dr. Setterfield’s enormous experience and understanding of bullous

disease and advice on its treatment, was well received. Everyone had

a chance to talk with her and get a lot of questions and concerns answered.

It’s always good to meet others who have faced similar challenges and

this was a great opportunity to do so in a relaxed, informal environment.

On October 18, 2014, the Houston Support Group

held its FOURTH meeting of the year! Patients gathered

at the Bayland Park Community Center and

discussed their current disease states, provided

feedback and support, and overall had a very nice

discussion amongst peers.

The Houston support group meets every 3 months

at the Bayland Park Community Center. If you have

questions about the support group leader, or want

some delicious pralines, contact Mary Lee Jackson at

marylee@pemphigus.org.

left: Mei Ling

Moore, Diane,

and Ron

below: Noelle

Madsen, Lynn,

Dr. Holland,

Dr. Haley, Mei

Ling.

far left: Isobel Davies, Dr. Setterfield, and

the PEM Friends gather in London, UK.

DO YOU HAVE A

GROUP?

F

LET US KNOW! It doesn’t have to be formal

to be a group! All you need is another person,

a place to sit, and time to talk. The important

thing is to be able to share your experiences

and get the support you need.

If you want to find others in your area, contact

Noelle Madsen at noelle@pemphigus.org.

 

Veltuzumab is an anti-CD20 antibody administered by subcutaneous injection. In a recent study, it was shown to be safe and effective. Results showed one patient to be in complete remission of disease and off therapy. No serious or adverse events occurred during the 35 months of follow-up. Orphan drug status is granted by the FDA to a drug or biological product to treat a rare disease or condition upon request of a sponsor. Orphan drug designation qualifies the company for various development incentives, including tax credits for qualified clinical testing, a waiver from FDA’s application, and a seven- year period of marketing exclusivity in the United States for veltuzumab, if it is approved by FDA for the treatment of patients with pemphigus. The granting of an orphan designation request does not alter the regulatory requirements and process for obtaining marketing approval. Safety and effectiveness of a drug must be established through adequate and well-controlled studies before a drug becomes FDA approved.

 

I wanted to know what this means for the pemphigus & pemphigoid community, so I spoke to one of the authors on this study, Dr. Aimee S. Payne, M.D., Ph.D. Dr. Payne is an Albert M. Kligman Assistant Professor of Dermatology at the University of Pennsylvania. I asked Dr. Payne what does orphan drug status for veltuzumab mean for pemphigus vulgaris patient right now. She said, “Although there is no immediate effect on pemphigus therapy right now, the orphan drug designation is an important first step toward FDA approval. It helps to encourage the development of treatments for rare diseases such as pemphigus.” More specifically, I asked if she could elaborate on what this means for pemphigus vulgaris patients in the future. Dr. Payne replied, “We are currently working with the company to design a clinical trial of subcutaneous veltuzumab in pemphigus.” An advantage of subcutaneous dosing is it is more convenient, and requires a shorter post-injection observation time (30-60 minutes) opposed to intravenous dosing that can take several hours to complete. While not immediate, Dr. Payne is hopeful veltuzumab testing could extend to other pemphigus and pemphigoid patients (i.e. PF, BP, MMP, OCP, PNP, etc.)saying, “Veltuzumab may eventually be tested in patients with other autoimmune blistering diseases in the future.” To read the study abstract visit http://pemphig of a discussion during our 2014 Patient Conference in Chicago. There, a panel of expert patients answered questions from the audience on different aspects of P/P. The discussion was incredibly informative. We decided to return to it for our first call in May. June’s call focused on rituximab (Rituxan®/MabThera®) and featured special guest panelist, dermatologist, and a major influencer behind the founding of the IPPF, Dr. Grant Anhalt. Dr. Anhalt himmense experience in treating P/P patients with rituximab, and was able to provide a lot of insight on the treatment. MAB member Dr. Neil Korman, also a dermatologist, was featured in July’s call, which was a general Q&A session. Dr. Korman has been treating P/P for years and is a good friend of the IPPF. He was able to provide care tips and advice to those able to ask questions. A huge topic we get questions on regularly is oral pemphigus and pemphigoid. For example,

 

“What kind of topicals are used for mouth lesions?” “Can I still brush my teeth?” “Can I have dental implants?” Our August call focused on oral care and featured professor and periodontist, Dr. Terry Rees. September’s call focused on another hot topic here at the IPPF: IVIG. MAB member Dr. Sergei Grando is a dermatologist practicing in Irvine, CA, who has massive experience in treating P/P patients with this infusion therapy. In October we did another patient panel of expert to answer questions. Peer Health Coach Marc Yale and IPPF founder Janet Segall joined us on the call. Dr. Susan Cohen Byrne, a PV patient and psychotherapist out of Davis, CA, was on our November call discussing the mind/body connection. She focused on managing mental health while combating a rare disease. If you were unable to participate in the previous calls and would like to listen to the call recordings or read through the call transcripts, you can go to pemphigus.org/ peer-support/town-hall-series/. If you want to learn more about the series, or have any questions, please contact Noelle Madsen at noelle@pemphigus.org. Noelle Madsen is the IPPF Patient Services Coordinator and lives in Sacramento, CA. She is dedicated to providingsupport and education to those affected by P/P. She is a new contributor to the Quarterly and can be reached at noelle@ pemphigus.org Q: What is one of your biggest accomplishments?

A: We were successful in passing legislation which directed the US Food and Drug Administration (FDA) to increase access to accelerated approval pathways for rare diseases. [Author’s note: Accelerated approval can bring downthe cost and time of the drug development process allowing for less-stringent criteria (also known as a surrogate endpoint) when determining whether a drug has passed a clinical trial.]

Q: What are the foundation’s future aspirations?

: A primary aspiration is to create a market incentive to repurpose major market drugs for rare diseases. Companies currently do not have an incentive to develop their current drugs in major diseases for rare diseases. Companies can be incented with market exclusit.

Q: What are the biggest opportunities and challenges for rare disease community?

A: Thirty million Americans are affected with rare diseases, but the advocacy community is less than one million strong. There is potential to grow the advocacy community. FDA and National Institutes of Health (NIH) budget cuts are significant challenges.

Q: How can organizations and individuals get involved with your foundation?

A: We recently launched the Community Congress, which brings together industry and patient organizations. Additionally, organizations can endorse the CureTheProcess campaign (www.curetheprocess. org). We rely on our patient organization partners to reach out to their members to contact congress. Individuals can also get involved in the Rare Disease Legislative Advocates program (e.g., patients and parents). Badri Rengarajan, MD, is President of the IPPF Board of Directors and lives in northern California. .

to let people know as soon as

possible, and maybe, by chance,

someone contacts us saying that

they know somebody who needs

help.”

This goes to show no volunteering

act is too small. We all have it

in us to spread awareness and can

start by looking for opportunities

in our own communities.

ADA Presentation

On October 9, 2014, Dr. Vidya

Sankar presented at the American

Dental Association’s (ADA)

Annual Meeting in San Antonio,

Texas. Her presentation, “The Dental

Detective: Investigating Autoimmunity,”

addressed the common

symptoms and referral patterns

for several different autoimmune

diseases, including PV and MMP.

This served as an excellent way to

provide continuing education on

these illnesses to the entire dental

community.

“The oral health care professional

will commonly encounter

patients with an array of oral and

systemic health needs,” Dr. Sankar

said. “The ADA offered us a

platform to review some of these

lesser known conditions in order

to identify patients with potentially

undiagnosed needs and act as

a conduit to aid in diagnosis and

management. Additionally, linking

up the dental professionals

with professional societies such

as the IPPF will help to increase

awareness and access to care and

potentially increase our patients’

quality of life.”

The IPPF thanks Carlos, Dell,

and Dr. Sankar for their collaboration

on this project and their devotion

to raising awareness.

Together we can raise awareness

and promote early diagnosis

of PV and MMP. We all have ways

we can contribute. These are just

three of the many more tales of

awareness there are to share.

What’s yours? The IPPF encourages

our Community to get

involved with the Awareness

Campaign. If you are interested in

learning more about the campaign

or getting involved, please contact

Awareness@pemphigus.org.

Kate E. Frantz, MPH, CTTS, is

the Awareness Program Manager

at the IPPF living in Dixon,

CA. She is a contributor to

the Quarterly newsletter in her

“Awareness and You” column.

Kate can be reached at awareness@

pemphigus.org.

. . .continued from AWARENESS, page 6

Vidya Sankar, DMD, MHS, University of

Texas Health Science Center, San Antonio

generous. It has been overwhelming and we have

done really well so far. The IPPF has helped us, too, by

providing promotional material that we handed out.

We also had T-shirts and a banner made, which have

definitely helped raise awareness of PV. Please check

out the IPPF Facebook page to see photographs of

the event.

Thanks entirely to the funds we raised, I received

my first rituximab infusion two weeks ago, and it went

well. I am due for my second infusion next week, and

while I know I have a long wait, I am feeling very positive

about the outcome.

I just hope and pray it will work for me. I have been

advised that it normally takes at least three months

to determine whether or not rituximab is effective,

and I understand it is likely I will need further infusions.

Over the next few weeks, I will hopefully be

reducing the steroids and immunosuppressents.

As you can imagine, trying to cope with this disease

over a number of years has taken its toll. I have gone

from being a very fit and healthy man to being overweight

with a painful, incurable disease. This whole

period has been a depressing and difficult time for

me and my whole family. The most difficult aspect of

living with this disease is the excruciating pain I have

had to endure, and therefore I am looking forward to

returning to a life free of pain where I can enjoy keeping

fit and healthy and return to my weekly cycling

event with my brothers.

. . .continued from ROAD TO REMISSION, page 13

Scott is an Operations/Call Center Manager

who lives and works in West Midlands, United

Kingdom. Scott is happy to raise P/P awareness

by telling his story in the Quarterly. Once he is

feeling better, he hopes to continue to raise

funds for other PV sufferers. If you would like

to support Scott’s treatment fund, please visit

http://www.youcaring.com/medical-fundrais

 

a time . . . what else could I do?

In December one of the doctors

noted that along with the

predominantly oral presentation,

I had some skin symptoms, but it

wasn’t until July 2011 as a result of

my skin condition worsening with

blisters on my scalp and face that

I was referred to a dermatologist.

In September 2011, as my dermatologist

had suspected, my

PV diagnosis was confirmed and

refined as pemphigus with predominant

mucous membrane

involvement. Unfortunately, my

dermatologist moved to another

country and I was referred to a

new dermatologist. I was now being

seen by both an oral consultant

and a dermatologist. I continued

a variety of different treatments

(Dermovate, Protopic ointment,

Elidel, Betnesol nasal spray, and

prednisolone mouth wash) and

drugs (prednisolone, azathioprine,

mycophenolate). None of them

were particularly effective.

During this time, the erosions

had spread all over my face and

nose and were particularly severe

on the top of my head. I was then,

and I still am, obese due to the

large amount of steroids. The disease

is extremely painful; so much

so it affected my sleep because I

cannot rest my head on the pillow

at night. I remember visiting

the hospital one day, when my lesions

were particularly bad and the

nurse thought I had been in a car

crash!

Every time I washed my hair

or face I would lose a piece of

skin. Every time I ate anything my

mouth would start to bleed. I can

honestly say at this point I was a

broken man with little quality of

life. I would hide the pain and discomfort

from my family. Many

times I said I was okay, but inside I

felt so depressed and despondent:

there did not seem to be any light

at the end of the tunnel. It felt like

no one could help me and there

was nowhere to go.

In an attempt to seek help and

get yet another opinion, my dermatologist

arranged for me to

see a world expert in dermatology

at Guys Hospital who determined

that my high daily steroid

requirement could not continue.

He recommended a drug called

rituximab and initiated a request

for funding via National Health

Service (NHS) of England. Unfortunately,

the funding request was

declined. I was devastated.

My wife wrote to our local member

of Parliament hoping his support

would sway NHS to reconsider

their decision, but it didn’t. My

wife and family decided that we

had no alternative but to try and

raise the money ourselves, and as

a family we began our mission.

In preparation to receive rituximab,

I was advised to start weaning

off the drugs I had taken for so

long. This had disastrous consequences

and led to a massive flare

up — the worst I have ever had. I

had to be taken into hospital as an

emergency case, where for over

four days I received three pulsed

doses of IV methylprednisoloine

and IVIG infusions.

This made an enormous improvement

to my pemphigus and

for the first time in years I felt so

happy and such a sense of relief as

the pain had largely subsided.

I was aware IVIG is meant to be

an interim treatment and a temporary

solution. Generally patients

remain lesion-free for up to 30

days. In my case only two weeks

passed. I continued to receive IVIG

every two to four weeks, and it

seemed to stop disease progression.

Because I had to be hospitalized,

my consultant submitted

additional clinical information to

the NHS explaining my new circumstances.

Sadly, this renewed

request for funding of rituximab

was declined again.

One of my family’s first fundraising

events was a 100-mile

bicycle ride. I am so proud of my

son, brothers, and friends who

took part. Everyone who donated

 

tween the winter holidays and early January is the

most busy time of the year for mental health professionals,

in part because it is difficult during these

times of reflection not to become depressed, if that

is a struggle.

It is important for those who are affected in this way

to make a special effort to practice positive thinking

(mindfulness) and reflect not only on the unpleasant,

but also pleasant memories. I’ve suggested imagining

that you’re putting negatives into a box and taping it

up; then seeing yourself locking that box into a trunk;

then imagining wrapping chains around the trunk

and leaving it for a later date. You will know where the

trunk is and how to retrieve what is inside, but you

can also choose to keep all or most of the contents

locked up for a while. At this point you may be willing

to accept offers of help from others, which is among

the healthiest of escapes.

The holidays are also a good time to reach out to

others. We’ve all heard that it is truly more satisfying

to give than to receive. Inviting lonely people to an

event or volunteering at a nursing home or other facility,

for instance, will have a positive effect on your

mood. As a way to track your progress through the

difficult holiday period, keep a record of your mood

and activities or lack of activities. As regularly as you

can, rate your mood on a 1-to-10 scale with 1 being

the worst and 10 being the best. Also track your activities

or lack of them as a record of the patterns and

both positive and negative triggers. Everyone is different,

and how you are in this world and during this

time of year will not be the same as for others. Hold

onto necessary traditions, but allow yourself to have

new experiences. You may surprise yourself.

Besides these mindfulness approaches and techniques

related to reaching out to others, there are

a number of physical solutions that may help with

dealing with SADS. Vitamin D supplementation has

been found to be useful. As well, daylight spectrum

lamps (or just special bulbs put into existing lamps)

can also help counteract the seasonal lack of natural

sunlight. Still, many people will need different medications

or increased doses of their current medications.

Checking with your primary care physician or

having an evaluation by a psychiatrist or psychologist

can be helpful and may greatly increase the quality of

your holiday season.

After eight months of oral symptoms and appointments

with doctors and dental specialists, I received

my own PV diagnosis right before Thanksgiving. One

of the first posts I read on the P/P online discussion

group forum was from someone (Hi, Skip!) who recounted

feeling lucky to swallow mashed potatoes in

his first symptom-filled year. That really helped me

to put things in perspective.

I focused on what I could do, not what I could not

do. Unless you’re having a flare or going through a

particularly rough time physically, get out and do

things. Happiness is a choice, and all humans have

the ability to be happy.

Happy holidays and my best wishes for a terrific

new year.

 

 

 

Established in 2009 by Dr. Emil Kakkis, a physician

scientist and drug developer, the EveryLife Foundation

focuses on catalyzing and accelerating the development

of drugs for rare and orphan diseases. Before

founding EveryLife, Dr. Kakkis was Chief Medical

Officer of BioMarin Pharmaceuticals and is currently

the CEO of Ultragenyx Pharmaceuticals. IPPF President

Badri Rengarajan, MD, interviewed Executive

Director Julia Jenkins.

Q: What does the EveryLife Foundation do?

A: Our organization works to create scientific-based

public policy to improve clinical development and

the regulatory process in rare diseases. The Orphan

Drug Act was passed more than 30 years ago. Yet

drugs have only been developed and approved for

five percent of them (400 diseases among the 7,000

rare diseases). [Author note: In the US, a disease that

affects fewer than 200,000 people is considered

an orphan disease, and a disease that affects fewer

than 50,000 people is considered an ultra-orphan

disease.]

Q: What is distinctive about what your organization

does relative to other rare disease organizations?

A: Our organization was created specifically to create

change and improve the drug development process.

We focus on policy issues that no other organization

is addressing.

Q: Do you have a focus on certain types of rare disease

or certain situations?

A: Our initiatives are beneficial for any rare disease.

Improvements in the drug development process will

benefit all rare diseases. However, our primary focus

is on ultra-orphan diseases, which make up 80

percent of rare diseases. Our motto is “no disease

too rare.” We also focus on diseases in which no

treatments have been developed (which are most of

them). It should be noted that 83% of diseases have

fewer than 6,000 patients, yet only 18% of orphan

drugs have been approved for ultra-orphan diseases.

We are trying to address this lopsidedness.

Q: Who are your constituents or “customers”?

A: We work with patient organizations and, in some

cases, parents and patients. We work mainly with

smaller patient organizations (so-called “kitchen table

organizations”). We also do some work with industry

and regulators, and academics. We hold workshops

to develop science behind drug development and

regulatory process for rare disease drugs.

Established in 2009 by Dr. Emil Kakkis, a physician

scientist and drug developer, the EveryLife Foundation

focuses on catalyzing and accelerating the development

of drugs for rare and orphan diseases. Before

founding EveryLife, Dr. Kakkis was Chief Medical

Officer of BioMarin Pharmaceuticals and is currently

the CEO of Ultragenyx Pharmaceuticals. IPPF President

Badri Rengarajan, MD, interviewed Executive

Director Julia Jenkins.

Q: What does the EveryLife Foundation do?

A: Our organization works to create scientific-based

public policy to improve clinical development and

the regulatory process in rare diseases. The Orphan

Drug Act was passed more than 30 years ago. Yet

drugs have only been developed and approved for

five percent of them (400 diseases among the 7,000

rare diseases). [Author note: In the US, a disease that

affects fewer than 200,000 people is considered

an orphan disease, and a disease that affects fewer

than 50,000 people is considered an ultra-orphan

disease.]

Q: What is distinctive about what your organization

does relative to other rare disease organizations?

A: Our organization was created specifically to create

change and improve the drug development process.

We focus on policy issues that no other organization

is addressing.

Q: Do you have a focus on certain types of rare disease

or certain situations?

A: Our initiatives are beneficial for any rare disease.

Improvements in the drug development process will

benefit all rare diseases. However, our primary focus

is on ultra-orphan diseases, which make up 80

percent of rare diseases. Our motto is “no disease

too rare.” We also focus on diseases in which no

treatments have been developed (which are most of

them). It should be noted that 83% of diseases have

fewer than 6,000 patients, yet only 18% of orphan

drugs have been approved for ultra-orphan diseases.

We are trying to address this lopsidedness.

Q: Who are your constituents or “customers”?

A: We work with patient organizations and, in some

cases, parents and patients. We work mainly with

smaller patient organizations (so-called “kitchen table

organizations”). We also do some work with industry

and regulators, and academics. We hold workshops

to develop science behind drug development and

regulatory process for rare disease drugs.

 

 

 

Established in 2009 by Dr. Emil Kakkis, a physician
scientist and drug developer, the EveryLife Foundation
focuses on catalyzing and accelerating the development
of drugs for rare and orphan diseases. Before
founding EveryLife, Dr. Kakkis was Chief Medical
Officer of BioMarin Pharmaceuticals and is currently
the CEO of Ultragenyx Pharmaceuticals. IPPF President
Badri Rengarajan, MD, interviewed Executive
Director Julia Jenkins.
Q: What does the EveryLife Foundation do?
A: Our organization works to create scientific-based
public policy to improve clinical development and
the regulatory process in rare diseases. The Orphan
Drug Act was passed more than 30 years ago. Yet
drugs have only been developed and approved for
five percent of them (400 diseases among the 7,000
rare diseases). [Author note: In the US, a disease that
affects fewer than 200,000 people is considered
an orphan disease, and a disease that affects fewer
than 50,000 people is considered an ultra-orphan
disease.]
Q: What is distinctive about what your organization
does relative to other rare disease organizations?
A: Our organization was created specifically to create
change and improve the drug development process.
We focus on policy issues that no other organization
is addressing.
Q: Do you have a focus on certain types of rare disease
or certain situations?
A: Our initiatives are beneficial for any rare disease.
Improvements in the drug development process will
benefit all rare diseases. However, our primary focus
is on ultra-orphan diseases, which make up 80
percent of rare diseases. Our motto is “no disease
too rare.” We also focus on diseases in which no
treatments have been developed (which are most of
them). It should be noted that 83% of diseases have
fewer than 6,000 patients, yet only 18% of orphan
drugs have been approved for ultra-orphan diseases.
We are trying to address this lopsidedness.
Q: Who are your constituents or “customers”?
A: We work with patient organizations and, in some
cases, parents and patients. We work mainly with
smaller patient organizations (so-called “kitchen table
organizations”). We also do some work with industry
and regulators, and academics. We hold workshops
to develop science behind drug development and
regulatory process for rare disease drugs.
Q: What are some significant programs of the EveryLife
Foundation?
A: CureTheProcess: We want to accelerate biotechnology
innovation and increase the predictability of
the FDA’s regulatory review process.
Rare Disease Legislative Advocates: We support
legislative advocacy for all rare disease groups with
events such as lobby day, Capitol Hill Briefings, and a
gala. We want to empower the individual to become
an advocate by providing informational meetings,
legislative resources, advocacy tools, and special
events that support organizations and advocates
working to promote rare disease legislation.
of COL17 to test the effect of BP (human) patient-derived
antibodies. Generally, mice are a great experimental
model for studying the human immune system
since the mouse and human systems have been
found to be mechanistically very similar.
The authors genetically removed C3 from the humanized
COL17 mice and showed that indeed, they
lack the complement system. The authors also isolated
four different autoantibodies from four different
BP patients and found they vary in the degree
to which they activate the complement system. All
of the BP antibodies could induce skin detachment
(characteristic of blisters) when injected into either
the normal mice or in the complement-deficient
mice, demonstrating the complement system is likely
not at play in BP blister formation.
They next developed new antibodies that recognize
the exact same portion of COL17 and found a
correlation between the level of COL17 recognized
by the autoantibodies and blister formation. Recent
studies have shown COL17 antibodies not only recognize
and bind COL17 but also deplete it from cultured
cells. Ujiie and colleagues repeated that result show it
is complement-independent. As well, they find the
same effect of COL17 depletion in the COL17-humanized
mice – the antibodies caused blisters and
simultaneously reduced the amount of COL17.
Finally, the authors found that this was due to an
induction of the ubiquitin-proteasome system, the
machinery of cells that acts as a garbage disposal for
unwanted proteins. In this case, the COL17 autoantibodies
somehow mark the otherwise normal COL17
for destruction, possibly setting the stage for BP
symptoms and disease.
Several mechanisms may still be at play to mediate
the effects of COL17 autoantibodies generated
by BP patients (see figure). These include a degradation
system, as suggested from the current work or
COL17 may be internalized into cells upon binding of
the autoantibodies, as has been seen in studies from
other labs. It is also possible that COL17 gets internalized
first and then the intracellular proteasome
system degrades it. In any case, COL17 targeting by
BP autoantibodies is a probably occurring by a more
direct mechanism than if it involved the complement
system.
It is possible that BP shares a mechanistic basis with
other autoimmune mucocutaneous diseases such as
pemphigus vulgaris, where autoantibodies recognize
desmoglein proteins Dsg1 and Dsg3 in keratinocytes
of the epidermis. Therefore, understanding the underlying
mechanisms at play in blister formation in
the various P/P diseases will be applicable to all patients
Having a rare disease can be a
scary thing, especially, when there
are so few people in the world
who know about your disease and
what you are going through. Oftentimes
you have questions but
no one is there to answer them.
At the IPPF we are here to answer
your questions. Because the
questions we receive from patients
are often very similar, we
host calls where patients can learn
live, directly from other patients
and experts, on pemphigus and
pemphigoid (P/P) topics.
The Patient Education Series
has been designed to bring knowledge
and information to patients
all over the world regarding P/P.
The first project in the series is the
monthly Patient Education Calls.
One of the strengths of the
IPPF is our ability to reach individuals
around the world and share
expert-provided information with
those affected by P/P. To that
end, we host a monthly Patient
Education Call with a different expert
panelist each time, focusing
on a different topic.
Some months will be general
question and answer sessions
with either a physician or other
patients. Other months we focus
on specific topics such as oral care,
rituximab, IVIG, and nutrition.
It is a challenge to find
a good time to accommodate
the speaker’s schedule across the multiple
time zones of our community.
For this reason each month we
have the call at a different time
and day.
The calls are free to attend but
subject to charges according to
your phone or Voice over IP (VoIP)
provider. Each call is recorded and
key points are made available in a
PDF for you to listen to or read at
your convenience. We understand
some calls may be at inconvenient
times for some people, but we do
everything we can to ensure everyone
can still learn from what
was discussed on the call.
Registration is open on our
website for each call. We promote
the calls through our eBlasts, Facebook,
Twitter, discussion group
emails, and on RareConnect.
Hopefully, these reminders will
help you check your calendar to
see if you can attend. If you aren’t
on our eBlast mailing list please
email me at noelle@pemphigus.
org so that I can add you.
When you register for the call
you will receive an email with instructions.
In the instructions you
will be given the phone number to
call, the access code to enter, instructions
on how to ask a question,
and the etiquette for asking
a question of the panel member.
We also have some international
numbers and online/smartphone
apps to help you get connected.
You don’t have to have a question
to be a part of the call.

Many
callers listen in to learn something
new. We understand it can be difficult
to ask your question during
a live call. For this reason, we provide
an option when you register
to presubmit a question that may
be asked during the live call. If
time does not permit for all of the
presubmitted questions, we have
them answered later on and will
contact you with the results.
Our first Patient Education Call
was in May 2014 as an extension