percent of investigational drugs tested in clinical trials fail.

Discovering treatments for rare diseases can be even more challenging because the small numbers of patients with these diseases make it difficult to find enough

See NCATS, page -9

FALL 2014

New drug test method for rare diseases Page 1

Organs-on-ChipsPage 1

Editing DNA as curePage 1

Welcome Page 2

Keeping cool Page 2

NORD advises House on patient care Page 3

Boys’ baseball team supports Fabry Page 4

Philippines family seeks Rare Disease Act Page 4

New Fabry club, gift shopPage 5

Evotec, Shire partner Page 6

Shire/Sanofi conspiracy? Page 6

Help PSI help other patients like you Page 6

Insights from Fabry doctor Page 7

NORD honors courage Page 8

Fabry National Meeting Page 8

Dragon Slayerz Club Page 9

FSIG early PAL award for video project Page 10

LDN gets 5-year grant for clinical research Page 10

Genzyme, ISIS honored Page 10

Acknowledgements Page 11

1

News from the Fabry Support & Information GroupFSIG Connection

I N S I D E

Adapted from Press Release

The traditional paradigm used by pharmaceutical companies to discover and develop new drugs is broken. Clinical studies take years to complete and testing a single compound can cost more than $2 million.

Meanwhile, innumerable animal lives are lost, and the process often fails to predict human responses because traditional animal models do not accurately mimic human physiology. For these reasons,

See CHIPS, page 2

Designed to cell: Organs-on-Chips

By Steve Connor The Independent, UKA genetic disease has been cured in living, adult animals for the first time using a revolutionary genome-editing

technique that can make the smallest changes to the vast database of the DNA molecule with pinpoint accuracy.

Scientists have used the genome-editing technology to

Better way to test drugs for rare diseases?

MEDICAL INNOVATIONS

PHOTO COURTESY OF HAVARD’S WYSS INSTITUTEOrgans-on-Chips are clear, flexible polymers about the size of a computer memory stick. They contain hollow channels lined with living cells and tissues that mimic human organs. The technology can accelerate development of personalized medicine products.

New drug test technology more reliable than animal studies

Scientists ‘edit’ DNA to correct genes, cure diseases

Press Release

In a paper published in the June 6, 2014, issue of Nature Biotechnology, NCATS scientists present an approach to combat the odds by pursuing treatments that target common molecular mechanisms across multiple rare diseases.

Developing effective treatments is normally a slow and costly process, and more than 80

cure adult laboratory mice of an inherited liver disease by correcting a single “letter” of the genetic alphabet which had been mutated in a vital gene

See DNA, page 3

with conventional culture systems, while permitting real-time analysis of biochemical, genetic and metabolic activities within individual cells.

The Wyss Institute team also has developed an instrument to automate the Organs-on-Chips, and to link them together in a way that mimics blood to create a “Human-Body-on-Chips” and better replicate whole body-level responses.

This automated platform could represent an important step toward more predictive and useful measures of the efficacy and safety of potential new drugs, chemicals and cosmetics—while reducing the need for traditional animal testing. Lined by patient-derived stem cells, the chips also could potentially provide a way to develop personalized therapies.

Dear Friends,What a season it has been for exciting

medical advances, giving us all hope of more effective and/or more affordable ways to combat Fabry. (The idea of Organs-on-Chips seems especially Star Trek!)

Over at FSIG, we’re gearing up for our next Expert Fabry Conference in February... and in Orlando!_ We’re also getting ready to begin work on our new video about LSDs, thanks to Genzyme’s Patient Advocacy Leadership grant we were awarded on Oct. 1.

With many developments involving Shire this season, we have included a full spread of Shire stories... and as touched upon in one article, there was the recent news that their merger with AbbVie which had been announced in July—and which was being heralded worldwide as “The Year’s Biggest Deal”—had fallen through, due to new U.S. tax regulations.

Hoping the new year is the best one yet for the Fabry community! JackJack JohnsonFSIG Executive Director

WELCOME

2

the pharmaceutical industry needs alternative ways to screen drug candidates in the laboratory.

The Wyss Institute for Biologically Inspired Engineering at Harvard University announced in July that its human ‘Organs-on-Chips’ technology will be commercialized by a newly formed private company to accelerate development of pharmaceutical, chemical, cosmetic, and personalized medicine products.

Created with microchip manufacturing methods, an Organ-on-a-Chip is a cell culture device, the size of a computer memory stick, that contains hollow channels lined by living cells and tissues that mimic organ-level physiology. These devices produce levels of tissue and organ functionality not possible

CHIPS, continued from page 1“We took a game-changing advance in

microengineering made in our academic lab, and in just a handful of years, turned it into a technology that is now poised to have a major impact on society,” said Wyss Institute Founding Director Don Ingber, M.D., Ph.D., and leader of the Wyss Institute’s Organs-on-Chips effort.

Since their 2010 publication on the human breathing lung-on-a-chip in Science, and with grant support from the Defense Advanced Research Projects Agency (DARPA), Food and Drug Administration (FDA) and National Institutes of Health (NIH), Ingber and his team have developed more than ten different Organs-on-Chip models, including chips that mimic liver, gut, kidney and bone marrow.

PHOTO COURTESY OF HIESTAND FAMILYFabry patient Amethyst Hiestand excitedly finds her name outside her classroom as the school year begins, while wearing her new cooling vest. “It has been working AWESOME,” reports her mother, Tawny. “I love the fact there is no ice involved. She goes to school with it and can be outside ... in the 90-degree heat. She can’t play, but she can walk around and be with her friends. It has made her feel a little more normal and less secluded.”

Keeping cool in school

3

INNOVATIONS

1. Establish a Commission and National Plan to Determine Priorities, Methods, Resource Needs and a Consistent Agenda on Rare Disease Registries and Natural History Studies

2. Significantly Reform the Institutional Review Board (IRB) System for Assessing New Therapies

3. Ensure All Current Laws that Increase Patients’ Involvement are Implemented Fully

4. Ensure Sufficient and Consistent Resources, Direction and Funding for the FDA and NIH

involved in liver metabolism.A similar mutation in the same gene

causes the equivalent inherited liver disease in humans—and the successful repair of the genetic defect in laboratory mice raises hopes that the first clinical trials on patients could begin within a few years, scientists said.

The success is the latest achievement in the field of genome editing. This has been transformed by the discovery of Crispr, a technology that allows scientists to make almost any DNA changes at precisely defined points on the chromosomes of animals or plants. Crispr—pronounced “crisper”—was initially discovered in 1987 as an immune defence used by bacteria against invading viruses. Its powerful genome-editing potential in higher animals, including humans, was only fully realized in 2012 and 2013 when scientists showed that it can be combined with a DNA-sniping enzyme called Cas9 and used to edit the human genome.

DNA, continued from page 1

NORD helps U.S. House to hear patient voicePress ReleaseJuly 11, 2014 (Washington, DC) – NORD Board Member and Scientific Adviser Marshall Summar, MD, underscored the importance of hearing the patient voice in the drug discovery and development process in his invited testimony today at a House Energy & Commerce Committee hearing for the 21st Century Cures initiative.

On behalf of NORD, Dr. Summar presented nine recommendations for accelerating the pace of medical innovation and improving the lives of patients and their families.

“When we ask patients ‘What is the worst thing about your disease?,’ we are often surprised by their answers,” Dr. Summar told the members of the Energy & Commerce Subcommittee on Health.

The direct experiences of patients and their families—and their perceptions of factors such as quality of life and risk/benefit—need to be clearly understood and incorporated into drug discovery, development and delivery, Dr. Summar said.

NORD’s 9 Recommendations for Advancing Medical Innovation

Since then there has been an explosion of interest in the technology because it is such a simple method of changing the individual letters of the human genome—the 3 billion “base pairs” of the DNA molecule—with an accuracy equivalent to correcting a single misspeled word in a

23-volume encyclopedia.In the latest study, scientists at the Massachusetts Institute

of Technology (MIT) used Crispr to locate and correct the single mutated DNA base pair in a liver gene known as FAH, which can lead to a fatal build-up of the amino acid tyrosine in humans and has to be

treated with drugs and a special diet.The researchers effectively

cured mice suffering from the disease by altering the genetic make-

up of about a third of their liver cells using the Crispr technique, which was delivered by high-pressure intravenous injections.

“We basically showed you could use the Crispr system in an animal to cure a genetic disease, and the one we picked was a disease in the liver, which is very similar to one found in humans,” said Professor

Daniel Anderson of MIT, who led the study.“The disease is caused by a single

point mutation and we showed that the Crispr system can be delivered in an adult animal and result in a cure. We think it’s an important proof of principle that this technology can be applied to animals to cure disease,” Professor Anderson told The Independent.

“The fundamental advantage is that you are repairing the defect, you are actually correcting the DNA itself,” he said. Delivering Crispr safely and efficiently to affected human cells is seen as one of the biggest obstacles to its widespread use in medicine.

Feng Zhang, of the Broad Institute at MIT, said that high-pressure injections are probably too dangerous to be used clinically, which is why he is working on ways of using Crispr to correct genetic faults in human patients with the help of adeno-associated viruses, which are known to be harmless.

Other researchers are also working on viruses to carry the Crispr technology to diseased cells—similar viral delivery of genes has already had limited success in conventional gene therapy.

Reprinted with permission. Source: www.independent.co.uk/news/

science/revealed-scientists-edit-dna-to-correct-adult-genes-and-cure-diseases-9273555.html

5. Commission a “National Plan for Rare Diseases”

6. Enhance the Focus on Clinical Trial Design and Endpoint Development within the NIH Division of Clinical Innovation within the National Center for Advancing Translational Sciences (NCATS)

7. Create an “Orphan Protected Class” within the Medicare Part D Program

8. Establish Clearer Federal Policies with Regard to Off-label use of Drugs

9. Ensure Reimbursement for Medical Foods

Keeping cool in school

“We are racking up a lot of debts, considering one of his most important medications requires us to shell out P5,600 a month since he has to take an enzyme replacement therapy (via intravenous infusion) every two weeks,” related Lillibeth, who sells biko and kakanin (sticky rice cakes) at home.

“Thousands of Filipinos like Baldoza are quietly battling rare medical conditions. It is hard enough to earn money for basic necessities, how much more spending for a rare disease? As part of an organization that tackles rare diseases, we are hoping that lawmakers finally pass the [Philippine] Rare Disease Act, which would provide access to medical care as well as a lifetime of treatment for these patients,” said Cynthia Magdaraog, president of the Philippine Society for Orphan Disorders.

Reprinted with permission. Source: business.inquirer.net/176742/a-

familys-fight-vs-rare-disease#ixzz3AW5ggkyn

4

FABRY AWARENESS

By Charles E. Buban Philippine Daily Inquirer(August 16, 2014) – Ever since he was a young boy, Alexander Baldoza would experience numbness and tingling, crawling sensations—like ants—crawling on both hands and feet. It got much worse when he had a cold or fever.

It was only in 2010 and at 42 years old that Alexander finally had a definite answer to his strange condition: Fabry disease, a rare and inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide or GL-3, in the body’s cells … patients with Fabry disease typically have a shortened life span, and children must often cope with significant pain and disability.

“I almost got used to the symptoms and, in fact, just applied liniment or whatever topical ointment that my doctor would recommend,” related Baldoza.

While early diagnosis is important, Fabry disease causes a variety of symptoms—

Philippine family battles Fabry, hopes for RDAmany of which may be mistaken for those of other diseases—so much so that diagnosis can be very challenging and may be delayed for years, even decades.

“This is why it was only a few years ago, when my blood tests showed that my creatinine level was unusually high (elevated creatinine level signifies impaired kidney function, if not kidney disease), that my doctor began to suspect something. After seeing the result of my kidney biopsy, he immediately referred me to the Philippine General Hospital for a specialized blood test,” said Baldoza …

In Baldoza’s case, his failing kidney as well as hypertension and vertigo (a sudden sensation that he, or the environment around him, is moving or spinning) kept him from continuing his work as a machinist abroad.

Confined at home, the 46-year-old Baldoza now had to rely on his wife Lilibeth to find ways to support his burgeoning medical care as well as take care of their two children, ages 16 and 13.

PHOTOS COURTESY OF FLORENDA BALDWINThanks to a caring coach, Logan Baldwin and his teammates spread awareness for Fabry and cancer with helmet ribbons—which Logan’s mom says opened a door for them to talk about the conditions and support one another.

Boys’ team lifts spirits by sporting Fabry ribbonsBy Florenda Baldwin Fabry PatientMy son Logan is a 9-year-old who loves baseball. He plays on a competitive team in Utah with 10 other boys. His coach this year was determined to not only teach his team about baseball but also about life. He wanted to make them better baseball players and better people. Word soon got around that there were two families struggling with medical issues. One family had a mom battling breast cancer, and then there was our family with Fabry.

Coach didn’t know what Fabry was; I mean honestly who does right? One day I got a text asking if Fabry had “a color.” I replied, and a few practices later we were all surprised when coach brought out the ribbon stickers. My heart melted and my eyes teared. They wore the stickers on their batting helmets for the rest of the season.

My son Logan does not have Fabry, but his 4-year-old sister and I do. One boy said to Logan, “I’m really sorry your sister has this disease, she is so cute.” Logan told him that it stinks, but she would be ok. The conversation that went on between and some of the questions that were asked would amaze you. I believe in that moment the coach had accomplished exactly what he had set out to do.

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By Ann Gore-Gonzales Fabry PatientWhen my daughter Hannah was 10 years old, we found out she had Fabry. It turned our world upside-down. We had just moved from California to North Carolina, and suddenly she was in need of treatment. Suddenly she had to go from active to couch potato.

I also have Fabry disease, and so did my father and uncle, who both died at age 42. My grandmother, on the other hand, had it and lived into her 80s. But our family was not educated about this disease and did not understand how serious it was, or how it was passed. Sometimes I feel I still don’t fully understand.

When my new baby girl, Autumn, was born at Duke two years ago, I had her tested for Fabry; her mutation came back as Leu19Gln. Hannah’s and my screenings were done at Mt. Sinai, and our mutation came back as L19Q. Now Duke is retesting my family members, and we’re back to “Square 1”—no one else in the Fabry community has the Leu19Gln mutation.

So both girls are under monitoring during their care, as it could save someone else’s life. Hannah is in a Fabrazyme clinical trial at Duke, receiving infusions every two weeks. Without this treatment, she would not be able to function.

While I was pregnant with Autumn, I saw how seriously we need awareness of Fabry and n e w b o r n screenings to be done, because of the way doctors treated me. My mind was swimming with ideas. Others told me I would never get the funding, but those were people who don’t know me! I reached out to Fabry organizations and asked to work with them.

Doors opened, and I got involved with the rare disease community. When I came home from the Rare Voice Awards Gala in Washington, D.C., my mind was set. Teaming up with Tonia Borden-Lee, we laid a rough draft for our mission.

In 2012, we created the Fabry Awareness Ribbon Club (www.fabryawarenessribbonclub.org). The Fabry Ribbon was designed to represent the loved ones who have gone on before us, those battling the disease, and the

ones standing behind the scene (doctors, scientists, nurses, sponsors, family members caring for a Fabber). The Fabry Ribbon is there to show love and support, and trying to make a difference.

Through this organization, I have formed close relationships with other female Fabbers and parents of Fabbers.

Our club has been active—most recently, we held a Fabry Awareness Walk in the Park on September 28 in North Carolina. We also created M.O.M.s and D.A.D.s Against Fabry online fundraising campaign. And then there was the Saturday Hot Dog Day sponsored by the New River Harley Davidson Jacksonville (NC) to bring Fabry awareness to the public. Now we’re working on a Fabber scholarship.

For those who don’t live in or near North Carolina, there’s still a way to get your family and friends involved. Send them shopping to our online gift shop—n e c k l a c e s , shirts, mugs, aprons, license plates… even bibs and teddy bears! (See right panel)

Because of organizations

like mine and FSIG, I know I am not alone. They are others like me. It soothes my mind and gives me hope for my girls. “Believe & push forward to live life, as the sky is the limit!”

I SOMEONE WITH FABRY! Fabber creates support club, gift shop

Fabry patients Ann Gore-Gonzales and Tonia Borden-Lee have created a nonprofit online gift shop filled with Fabry awareness items. A great chance to educate the public, support an important cause, and enjoy! A few sample items are shared below:

www.fabryawarenessribbon giftshop.com

Holiday shopping

for Fabbers

PHOTOS COURTESY OF ANN GORE-GONZALESAnn’s older daughter, Hannah, helps spread Fabry awareness at Hot Dog Day, sponosred by the New River Harley Davidson of Jacksonville, NC.

companies, we are clearly benefiting at this stage from the restructuring situations of other companies. So there is more talent out there from pharma restructuring situations than ever before, so that’s very good for us.”

According to Lenthaler, Evotec is well placed to be an outsourcing partner in developing future drugs for orphan diseases.

Source: http://www.outsourcing-pharma.com/Preclinical-Research/Evotec-confirms-orphan-drug-

development-status-with-Shire-contract.

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Conspiracy between Shire, Sanofi allegedBy Melissa James FSIG ContributorWhen Shire announced two years ago that it would no longer be pursing the chance to market its ERT drug, Replagal, in the United States, no one seemed to question Shire’s apparent desire to stop investing in research toward FDA approval.

But a consumer advocacy group alleges it might have been part of a conspiracy between Sanofi—maker of Fabrazyme—and Shire, as well as Mt. Sinai’s prestigious Icahn School of Medicine, to supress competition. The group believes that Shire decided to give Sanofi the U.S. market if it would be allowed to sell Fabrazyme in Europe, and is now asking the U.S. Federal Trade Commission to investigate.

Twenty years ago, Mt. Sinai was awarded a patent for Fabrazyme, which was developed with support from the National Institutes of Health. Mt. Sinai then licensed exclusive rights to Genzyme. Soon, as described by The Wall Street Journal, “Shire was allowed to supply some U.S. patients, but could not meet demand. The patients lambasted NIH, since U.S. taxpayer dollars helped the medical school and Genzyme to profit. And they complained Genzyme supplied patients in Europe with full doses, which Genzyme denied. In short, a public health fiasco was alleged.”

By 2013, the shortage was alleviated as the FDA permitted a new plant to produce greater quantities of Fabrazyme. “The upshot is that the advocacy group believes Shire agreed to halt its effort to compete in the U.S. if the medical school granted permission to Shire to sell its drug in Europe,” The Wall Street Journal continued, and included a response from the medical school: “The allegations of a conspiracy are completely without merit and are pure speculation without any foundation.”

SHIRE

computational chemistry platforms, fragment-based screening and Evotec’s high-throughput screening.

“Large pharma is growing increasing into rare diseases,” Evotec CEO Werner Lenthaler told Outsourcing-pharma.com, which also reported that Germany-based Evotec is hoping to support the growth by offering its discovery and development platforms and services. “We’re basically trying to extract top talent from academia and also from pharma companies,” Lenthaler also “At these pharma

By Melissa James FSIG ContributorIn a three-year collaboration with Shire, Evotec will develop small molecule inhibitors against a target to treat Fabry disease. The deal, which was announced in August, came under a partnership that officially began in May—before the merger between Shire and AbbVie fell through amid a flurry of public interest.

The project will involve using drug discovery technology including

Evotec, Shire partner on molecule inhibitors to fight Fabry

By Art Wood PSI Senior Vice President, Marketing and DevelopmentThe call came in from a patient dealing with one of the chronic conditions with which PSI assists. He found out his son had a rare genetic disease. He and his wife went to the doctor and were relieved to hear that there was a treat-ment available for this disease that brought remarkable im-provement; however, when they found out the cost of the treatment, they went into despair. The wife had to give up her job; the child needed to remain at home due to the level of care required. The husband worked a blue-collar job that provided some income, but far from what was needed to support the family’s needs. The doctor suggested they turn to PSI. They were filled with hope; however, when they called us, they found out that there was no more funding available to accept their son.

These are the tough calls to take! As a nonprofit, PSI is solely dependent on the benevolence of the donors who provide the funding for the assistance provided. In the past year, we have found that funding levels have plateaued due to the economy. Donors have tightened their belts watching what the economy will do, especially with the new Health-care Reform Marketplaces becoming active in 2014. In ad-dition, the Office of Inspector General (which regulates this industry) has recently released a directive, which makes it much harder to help rare disease populations.

Over the next six months, PSI will be working with those currently funding the assistance programs to seek funding for 2015. In addition, we are working with the Office of the Inspector General to help them understand the plight of these patients and allow us to operate as we have for 25 years. If you are receiving assistance from PSI, please ex-press your gratitude to the manufacturer of your treatment and continue to encourage them to work with PSI to help these patient populations. For more information about PSI, visit: www.patientservicesinc.org

Help PSI keep funders, so they can keep helping you

pathophysiology in Fabry disease

• Aleš Linhart, MD, Czech Republic - Cardiac energy metabolism in Fabry disease

• Kathy Nicholls, MD, Australia - Use of stem cells and podocytes to investigate Fabry nephropathy

We look forward to the results of this research because we hope that these projects help further the understanding of

Fabry disease.

About Hartmann WellhoeferDr. Wellhoefer joined Shire in 2012

and leads the Medical Affairs function for the Rare Diseases portfolio including Fabry, Gaucher, Hunter Disease as well

as Hereditary Angioedema.With over 20 years of experience in the

pharmaceutical industry, Dr. Wellhoefer has worked in a variety of roles including drug target evaluation, business development, clinical development, life cycle management (LCM) and medical affairs in global, regional and local functions in Europe and the United States.

Dr. Wellhoefer has an MD from Technical University, Munich, Germany, and trained in Internal Medicine at Rechts der Isar, University Hospital also in Munich.

Reprinted with permission. Source: www.news-medical.net/news/20140708/Fabry-disease-

awareness-an-interview-with-Dr-Hartmann-Wellhoefer-Head-of-Medical-Affairs-Rare-

Disease-Shire.aspx

onset of the clinical symptoms.For example, if a diagnosis has been

established in an asymptomatic patient, we really don’t know whether the patient is going to develop clinical symptoms at some point in time and whether the patient would benefit from any therapeutic intervention.

The other major area of research we need to address is improvement of the diagnosis: making it easier and cheaper to diagnose. We have seen a lot of development in terms of the technology used for genetic testing, and the costs associated with this have already decreased, but further research is needed to understand how we can diagnose patients earlier and more quickly.

How does Shire plan to help advance innovation in Fabry disease research?

We actually established a program last year that we called Innovating in Fabry. This is a research grant program, where we challenged the scientific community to come up with great ideas that further the scientific understanding of the disease.

The independent research programs, which we will sponsor in this area, revolve around novel ideas that address the significant unmet needs in Fabry disease.

The 2014 grant winners were announced at the beginning of June, and are as follows:

• Derralynn Hughes, MD, United Kingdom - Disease severity and

By Dr. Hartmann Wellhoefer Head of Medical Affairs, Rare Disease, ShireWhat further research is needed to improve our understanding of Fabry disease?

One of the big challenges of Fabry disease is that there’s no good biomarker that allows you to track and predict the severity and the potential

progress of the disease, as well as the effectiveness of any therapeutic intervention.

Finding such a biomarker represents a major research need and, given that we are talking about a

rare disease, the establishment of a valid biomarker is a challenge in and of itself.

Another challenge, from a research perspective, is to better understand the link between the gene mutation and whether or not this leads to clinical consequences. In other words, there is no good correlation, no good understanding, of how the gene mutation impacts the severity of the clinical symptoms or the

7

Insights from a Fabry SpecialistDr. Wellhoefer discusses challenges, coming innovations

Dr. Hartmann Wellhoefer

Evotec, Shire partner on molecule inhibitors to fight Fabry

Washington, D.C. (May 9, 2014) – The National Organization for Rare Disorders (NORD) focused a spotlight on individuals and families who display great courage as they live with rare diseases at its Portraits of Courage Celebration last night.

During the program, Brooke and Brielle Kennedy of Michigan, ages 5 and 6, who have an incurable muscle wasting disease called Spinal Muscular Atrophy, put a medal around the neck of Michagan Rep. Fred Upton for sponsoring legislation to promote and expand pediatric medical research.

A “Portraits of Courage” gallery displayed photos and stories of 18 individuals and families representing the spirit of the rare disease community. These included Sam and Alex Bode, two sisters from Connecticut living with Friedreich’s ataxia; Joe Ellenberger of Nebraska, living with paroxysmal nocturnal hemoglobinuria (PNH); and Sam Berns, who

FSIG is a support group dedicated to dispensing information and encouraging mutual self-help as a means of emotional support. FSIG was formed in 1996 by two Fabry patients and supportive family members with the hope that their particular understanding of this disease, combined with experience gathering information and working with doctors could benefit others. FSIG is fortunate to have the following medical advisors: Christine M. Eng, M.D.Baylor College of Medicine, HoustonEdwin H. Kolodny, M.D.New York University School of Medicine, New York CityWilliam Wilcox, M.D.Cedars Sinai, Los Angeles These advisers have many years of experience in the treatment and research of Fabry and other related diseases. FSIG is a nonprofit, tax-exempt organization and relies on charitable contributions to provide services to those with Fabry disease, their families and supportive others. Donations may be sent to the address below. Please feel free to make copies of the FSIG Newsletter to share with your family, friends and others. We encourage anyone interested in FSIG or the newsletter to contact us so we can make sure you receive the next issue.FSIG108 NE 2nd St.P.O. Box 510Concordia, MO 64020-0510Phone: (USA) 660-463-1355Toll-Free: (USA) 866-30-FABRYFax: (USA) 660-463-1356Web: www.fabry.orgEmail: info@fabry.org

FOLLOW US! LIKE US!

FSIG

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SPECIAL EVENTS

PHOTO COURTESY OF NORDBrooke and Brielle Kennedy, ages 5 and 6, after presenting medal to Michigan Rep. Fred Upton for sponsoring medical research legislation.

died earlier this year and who helped promote worldwide awareness of progeria.

“This was a celebration of the spirit of the community,” said NORD President and CEO Peter L Saltonstall. “We meet extraordinary people every day in our work at NORD, and we chose this way of honoring the courage that our patients and families display in the face of great challenges.”

The celebration took place at the National Building Museum in Washington, D.C.

The program included remarks by Sean Hepburn Ferrer, son of actress Audrey Hepburn and Mel Ferrer, who shared the story of how a rare disease affected his family. Audrey Hepburn died of a rare cancer known as pseudomyxoma peritonei.

In addition to the Portraits of Courage patients and families, honorees included:

PUBLIC HEALTH LEADERSHIP AWARDS:• Sen. Sherrod Brown (OH) • Rep. Fred Upton (MI) ABBEY MEYERS LEADERSHIP AWARD:• MPN Research Foundation LIFETIME ACHIEVEMENT AWARD:• John Walsh, co-founder of the Alpha-1

Foundation and AlphaNetPARTNERS IN PROGRESS AWARDS FOR

ORPHAN PRODUCTS APPROVED IN 2013:• Actelion Pharmaceuticals for Opsumit • Bayer HealthCare for Adempas • Genentech Inc. for Gazyva • Genzyme, a Sanofi Company, and

Isis Pharmaceuticals for Kynamro • GlaxoSmithKline Plc for Tafinlar

and Mekinist• Pharmacyclics Inc. for Imbruvica

NORD honors those with courage

FSIG expert conference set for Feb.By Jack JohnsonFSIG Executive Director We are looking forward to another exciting FSIG Expert Fabry Conference (FEFC), running Feb. 13–15, 2015, in Orlando, FL. Participants at last February’s conference in San Diego enjoyed wonderful weather, great presentations and a fantastic time. The conference will once again immediately follow the WORLD Symposium, Feb. 9–13 in Orlando.

The WORLD Symposium is the world’s premier Lysosomal Storage Disease event bringing in experts from around the globe. By following this symposium, you have access to the most resent information and the experts that make it possible. We hope you will be able to join us for the FEFC in Orlando!

A children’s volunteer at the 2014 FSIG conference.

a nonsense mutation, which prevents the body from making full-length proteins. Another type of mutation, a missense mutation, can cause abnormal protein folding and also underlies multiple rare diseases. Either type of mutation can result in cystic fibrosis, Gaucher disease, or Tay-Sachs disease.

Although these diseases differ in their characteristics and affected genes, many people with the conditions have one of the two types of mutations. Therefore, drugs that correct missense or nonsense mutations could be tested in all three diseases. Using this approach, each candidate drug for a specific type of mutation could be tested in a single clinical trial for all three diseases. “Research based on shared molecular mechanisms would enable scientists to classify thousands of diseases into a smaller number of categories,” Austin said. “This method could reduce the time and costs associated with clinical trials, enhancing the efficiency and pace of getting drugs to rare disease patients.”

9

DRAGON SLAYERZ CLUBJUST FOR TEENS... WHO WANT TO DEFEAT FABRY

When I was in middle school, I was forced to take gym just like all the other kids in my class. Only slightly aware of my condition, I found myself struggling more than everyone else.

Kids can be mean, and they always seemed to find a way to put me down —saying that my endurance was not as high as everyone else’s, and that made me lazy.

But I was not lazy! I enjoyed running and playing too. See, no one seemed to understand that a preteen could be anything but “normal” athletically. If you couldn’t perform all the necessary tasks, you were deemed fat, out of shape or lazy. Not being able to sweat was hard enough, but then I had to explain that I was different... and that is not something easy to do for someone that age.

I played basketball for 8 years (1st/2nd to 9th grade), pushing myself harder every time and never admitting that I felt tired, weak, out of breath or light-headed. I could have hurt myself a lot more than just the few times I passed out from being so overheated.

In my opinion, according to my experience, life would have

DEAR DRAGON SLAYERZ,

Be a good sport... to your body

NCATS, continued from page 1

Center for Advancing Translational Sciences (NCATS) director Christopher P. Austin, M.D. “One way NCATS does this is to approach the universe of diseases in a holistic way, focusing on finding connections among conditions that at first glance may seem unrelated.”

“It’s a proposal for a new way to test drugs and develop better treatments for rare disease patients,” said P.J. Brooks, Ph.D., a program director in NCATS’ Office of Rare Diseases Research (ORDR) and lead author of the paper.

Currently, scientists design clinical trials by testing one drug in a group of patients with a single disease. In other words, potential treatments currently are tested in only one disease at a time. Instead, the authors say, a more efficient method would be to group patients whose rare diseases are caused by the same type of genetic abnormality and then treat them all with a drug that is designed to address that problem.

For example, several rare diseases are caused by a type of genetic change called

people who can participate in clinical trials. The small numbers of rare disease patients also make gathering information about the diseases difficult. As a result, scientists often know little about the symptoms and biology of these conditions, which adds to the complexity of designing drug studies. Additionally, pharmaceutical companies may find it difficult to justify the cost of developing drugs for such small markets of rare disease patients.

There are about 7,000 diseases that affect humans, and treatments are available for fewer than 1,000. That’s about 6,000 untreatable diseases. At the current rate of transition from untreatable to treatable, which amounts to a handful of drugs approved each year, it will take more than 1,000 years for every disease we know of now to be treatable.

“NCATS’ mission is to get more treatments to more people more quickly,” said National

been a lot easier if I just would have come to terms with, and been educated on, what was going on with me... and then adjusted accordingly.

It wouldn’t have made me “disabled” or “impaired,” but it would have made others aware what was happening so they could watch for signs early, so I could avoid passing out—or even worse, a pain crisis.

So Dragon Slayerz, educate yourselves and then educate others! Specifically your teacher and gym teacher. That way, you can still become your best self but held to your own standards instead of everyone else’s.

Amanda

Press ReleaseCAMBRIDGE, Mass. (May 8, 2014) – Genzyme, a Sanofi company, and Isis Pharmaceuticals Inc. announced that they have received the 2014 Partners in Progress Corporate Award from NORD in recognition of KYNAMRO® (mipomersen sodium) injection. KYNAMRO, selected for being a very important orphan therapy to reach the market in the United States, is an adjunct to lipid-lowering medications and diet.

“There are over 7,000 rare diseases, of which, only 300 currently have a treatment option,” said NORD President and CEO Peter L. Saltonstall. “Each therapy brought to market for one rare disease provides hope to the many others that are still in need.”

This award marks the third time that Genzyme has been recognized by NORD for its contributions and ongoing commitment to improving the lives of those affected by rare diseases. The award was presented at NORD’s “Portraits of Courage Celebration” in Washington, DC. [See NORD story, page 8]

“It is an honor to be recognized by NORD and we hope this award serves to highlight the considerable unmet need that still exists in helping patients with rare diseases,” said Genzyme President and CEO David Meeker, M.D. “We are proud that we are able to bring our rare disease expertise to patients living with HoFH, who have exhausted conventional medications and are still in need of additional treatment options.”

“KYNAMRO is the first systemic antisense drug to reach the market and is the culmination of two decades of work to create a new, more efficient drug technology platform,” said Stanley T. Crooke, M.D., Ph.D., Chairman of the Board and CEO of Isis. “We are incredibly grateful to NORD for its recognition of the work to bring this much needed therapy to patients living with HoFH.”

NORD is a nonprofit organization established in 1983 to represent all individuals and families affected by rare diseases. It provides advocacy, education, support for research, and patient assistance programs to improve the lives of the 30 million Americans living with rare diseases.

10

Genzyme, ISIS receive honorNIH gives LDN 5-year grant for clinical research

GRANTS & AWARDS

July 21, 2014

Colleagues,

We have all been very patient, and

now we have an official response. Dr.

Jill Morris, our Program Officer for

the “Lysosomal Disease Network” at

NINDS just called me. She indicated

that NIH has just made its final

decision, and that the LDN U54

grant application will be funded.

Congratulations!

... Thought you would want to

know right away. Thanks for all

of your tremendous work. We are

looking forward to another 5 years

of excellent clinical research on

lysosomal diseases.

Warm regards,

Chet

Chester B Whitley PhD MD

ProfessorPI, Lysosomal Disea

se Network

Director, Gene Therapy Center

Director, Advanced Therapies

Director, PKU Clinic

Departments of Pediatrics, and

Experimental and Clinical

PharmacologyUniversity of Minne

sota

By Jack JohnsonFSIG Executive Director

FSIG is delighted to be a 2014 winner of Genzyme’s Patient Advocacy Leadership (PAL) Award grants, announced on Oct. 1.

The PAL awards are given for exciting and innovative projects. According to a Genzyme press release, the successful applicants came from Australia, Brazil, Croatia, Japan, Peru, the Netherlands, the U.S. and the U.K. A joint proposal from the U.S. and Canada was also selected

FSIG earns PAL award for new videofor an award.

Forty-five patient organizations from 23 different countries around the world submitted applications for this year’s PAL program, including first-ever proposals from Japan, Argentina, New Zealand, and Austria. The winners from Japan and Brazil were also Fabry support organizations.

We are looking forward to accomplishing the vision of this award to provide a unique educational tool for the LSD community.

For more information, visit www.genzymeadvocacyawards.com

“LSDs Revealed: Understanding the Basis of

Lysosomal Storage Diseases” Designed to teach the

underlying mechanism of LSDs in an understandable, entertaining format, the video will be created in a way that allows it to be adapted by different patient organizations to educate across disease areas and diverse

Our Video Project

11

ACKNOWLEDGMENTS

FIGHTING FABRY

Contributions in Memory of...David Beech by Maureen & Robert LowryKenny Bellamy & David Paterson by Jeff & Sharon BellamyJanity Blea, Frank Finn, Mary & Alan Larese by Lori WiseDavid Cruickshank by Margaret A. ShirleyRev. Carolyn Perry Dukenski by Abigail, Cynthia Allen, Marilyn Allen, Anonymous, Lesa Bodnar, Joan Bouchard, Nancy Calabretta, Mary Connolly, Roger Coutant, Kate Cusimano, Vivian & Daniel Dorman, Gayle Faughnan, William & Sharon Fiedler, Travis Finlayson, Stanley Fullwood, Christine Gott, Sharon Hall, Patricia Hames, Keith Harwood, Vicki Hobart, Barbara Hunt, Douglas Jones, Trudy & Len Kapner, Jeff Kaschube, Colleen Kavanaugh, Matthew Lechtenber, Laura Lion, Eileen & Peter Litwin, Ben & Armida Lizardi, Sandra & Bruce Mason, Linda Perry, Robert Sacks, Beverly Sager, Cheri Seabers, Diane Sheppard, Deborah Spencer, Peter Stebinger, Eileen & Marv Stern, Sharon Swanhall, Nancy Tebbe, Robin & Payton Turpin, Anthony Urillo, John Woods III & Eydel Schulty, Charles & Rosellen Waiveris and Terry WysongEstelle Finkel by Nancy LevyLila Nichole Gash by Kathy JohnsonPhillip Ray Joplin by Bonnie McKellar-JoplinHenry Landsberg by Nancy LevyGeneva Rose Majors by Don GashJoey Rice by Nancy Dwyer RiceDouglas H. Upton by Dorothy CrowellConstance Willman by Nancy Levy

Contributions in Honor of...Melissa Perry Adams by Abigail, Cynthia Allen, Gayle Faughnan and Deborah SpencerBrecklyn Baldwin by Florenda BaldwinLinda & Travis Banta by U.G. NealJay Dunkenski by Cynthia Allen, Kate Cusimano, Colleen Kavanaugh and Matthew LechtenberRon Dunkenski & Family by Cynthia Allen, Marilyn Allen, Anonymous, Joan Bouchard, Nancy Calabretta, Mary Connolly, Roger Coutant, Sharon Hall, Patricia Hames, Trudy & Len Kapner, Jeff Kaschube, Linda Perry, Robert Sacks, Beverly Sager, Diane Sheppard, Peter Stebinger, Sharon Swanhall, Nancy Tebbe, Robin & Payton Turpin, Anthony Urillo and Terry WysongStephen Dunkenski by Cynthia Allen and Travis FinlaysonDon & Linda Perry by Cynthia Allen, Lesa Bodnar, Gayle Faughnan, Keith Harwood, Vicki Hobart, Douglas Jones, Laura Lion, Cheri Seabers and Eileen & Marv SternAmy Huber Fees by Alicia Garofalo

Other Valued ContributorsMyrtle Arbuckle FamilyMaurice Ashbury IIIRobert & Linda BantaAlice BordelonTeresa & Steve BryantH.C & M.F CaseyDorothy CrowellMichael & Barbara FitzpatrickLinda & Peter Todsen

Corporate and Industry SponsorsAccurate RX, Amicus Therapeutics, Fairview Health Services, Engage Health, Inc, Genzyme Corporation (a Sanofi company), Orsini Pharmaceutical Services, Shire and United Way

Matching Funds DonationsAmeriprise Financial – matching funds Benevity Community Impact Fund by Trinh KelleherProgressive Insurance Foundation – matching funds by Michael Gnidovec

FSIG Fun Walk/Runby Anonymous, Christina Chilton, Elizabeth Blankinship, Gerald & Marian Lee, Janice Chilton, Sarah Cox, H/O Jack Johnson by Tanya Downing, Louise & William Fields, Amy Fuller, Kathy Johnson, Margaret Judge, Ryan Jett, Stephani Kent, Brian & Sheila Leander, David & Lindsay McArthur, Christopher & Jennifer Martin, Joan & J. Allen Anzer, Mary & Kevin Burford, Kenneth & Beth Linder, David & Kathleen Ann Dolan, Eileen & Kevin Griesemer, Michael & Michelle Golinvaux, Jason & Molly Love, David & Andrea Niebruegge, Timothy & Nancy O’Keeffe, Mark & Christine Ross, Gina Wheeler and Patricia & Gilbert Martin

Golf Tournament Lon Devanney

FIGHTING FABRY

Charitable contributions may be mailed to:Fabry Support &

Information Group108 NE 2nd Street, Suite C

P.O. Box 510Concordia, MO 64020

or give online at: www.fabry.org

FSIG would like to express our gratitude to the many physicians,

health care professionals, researchers, scientists, and

industry working on our behalf. Their efforts

make a great difference for us all.

News from the Fabry Support & Information GroupFSIG Connection

HUMAN BODY ON A CHIP

Fabry families raise awarenessHomegrown efforts, from gift shops to events

FSIG receives grant to create videoHow PAL award will help us teach about LSDs

High-tech drugs on horizon New approaches, mergers hold promise

ALSO

Will new Organs-on-Chips replace animal testing?

Can they be linked together to mimic a whole-body response?

Source: Timony Rubens, Wikimedia Commons