SPRING 2013

Q&A on Fabrazyme® supply statusBy Jack JohnsonFSIG Executive Director

It’s been nearly a year since the end of the Fabrazyme shortage, and I wanted to learn more about the current state of the drug supply.

On March 15, 2013, I conducted a phone interview with Rogerio Vivaldi, M.D., senior vice president, head of rare diseases. As a member of Genzyme senior management, Dr. Vivaldi is able to provide up-to-date information about this important issue.

See FABRAZYME Q&A, page 2

Protalix treats Page 1first Fabry patient

Amicus trial data Page 1

Fabrazyme supply status Q&A Page 1

Welcome Page 2

Walking for Fabry Page 4

Canadian trek Page 5

Kidney donation Page 5

Gift matching Page 5

Lysosomal Disease Network feature Page 6

New LSD clinic Page 7

Rare disease patient registries progress Page 7

Stem-cell trial Page 8

Dragon Slayerz Club Page 9

New hydrocodone limits from FDA Page 10

Genzyme awards, new scholarships Page 10

Acknowledgements Page 11

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News from the Fabry Support & Information GroupFSIG Connection

I N S I D E

Press Release

CARMIEL, Israel, Dec. 10, 2012 (GLOBE NEWSWIRE) – Protalix BioTherapeutics, Inc. (NYSE-MKT:PLX) (TASE:PLX), announced today that the first patient has been treated in the company’s phase I/II clinical trial of Fabry patients with PRX-102. PRX-102 is the

Protalix treats first Fabry patient Company’s PRX-102 uses genetically engineered plant cells

company’s proprietary plant cell-expressed, chemically modified recombinant alpha-galactosidase-A enzyme in development as a long-term enzyme replacement therapy (ERT) for the treatment of Fabry disease.

See PROTALIX, page 6

Press Release

CRANBURY, NJ, and ORLANDO, FL, February 15, 2013 – Amicus Therapeutics (Nasdaq: FOLD), today announced additional 6-month (Stage 1) results from the first ongoing Phase 3 global

Oral treatment data ‘encouraging’ in Amicus trialregistration study (Study 011) of investigational oral migalastat HCl monotherapy (150 mg, every-other-day) in males and females with Fabry disease who had genetic mutations identified as amenable to migalastat HCl in a cell-based assay.

Stage 1 results were highlighted in an oral platform presentation at the Lysosomal Disease Network WORLD Symposium (LDN WORLD) by Dr. Fatih Ezgu, Gazi University. Study 011 consists of a 6-month,

See AMICUS, page 3

D R U G UPDATES

and female awareness programs. A man in Canada is walking 250 miles for a Fabry friend and a young man with Fabry is undertaking the 2,700-plus mile coast to coast walk across the United States.

So keep up the great work and share your stories as well.

Thank you!

JackJack JohnsonFSIG Executive Director

Dear Friends,We have a full newsletter of promise for the

future and amazing efforts happening now. Many times we have pointed out continuing research in Fabry and again it holds true. The future may bring small molecule treatments that go where ERT can’t reach, across the blood-brain barrier. It could hold combination treatments improving ERT and it might even provide gene therapy.

Globally, Fabry awareness is ramping up with various awareness proclamations/campaigns

Q. What is your role at Genzyme and how did you join the company?A. I am responsible for the global rare disease business at Genzyme, which includes Fabry disease and our other LSD therapies, in addition to therapies for endocrinology and cardiovascular disease. I oversee a team globally of 1,000 people.

I am from Brazil and was trained as an endocrinologist. In 1995, Genzyme approached me about joining the company to run their operations in Brazil. By doing so, I thought I would be able to make a bigger difference to help patients and to help educate other physicians in my country. In 2010, Henri Termeer, the former head of Genzyme, asked me to come to the United States to head up the Renal Division for Genzyme. Later I was appointed the head of Rare Diseases, which covers all Genzyme products for rare genetic conditions.

Q. What is the status of the Fabrazyme recovery in the United States and globally?A. In the US, Genzyme has a healthy level of inventory and things continue to proceed quite well in our new,

state-of-the art facility in Framingham, Massachusetts—a plant totally dedicated to the production of Fabrazyme.

Over the year, we have been able to accommodate new patients and we are still able to build a healthy level of inventory. Since the end of the US Fabrazyme shortage last spring, there has been a steady growth in demand, which we have been able to meet while

also increasing inventory. The demand overseas has not been as great, but is increasing as patients start treatment.

Over 2013 Genzyme is anticipating the number of Fabrazyme patients to increase significantly, and we fully expect to be able to meeting this increased demand for treatment while maintaining sufficient inventory to avoid any supply problems.Q. What is the status of Fabrazyme deliveries in the US?A. There are no problems with being able to ship Fabrazyme, but this is a biologics drug so there is always the possibility that some kind of surprise could occur. There is the benefit of having drug available in two sizes, with the 5mg and 35mg vials. If for some unknown reason a problem would develop with one, the other is still available. There are no delays and we have a level of inventory that’s greater than it has been in a long time.Q. Does Genzyme have any new treatment approaches in development for Fabry and what are they? Chaperone, substrate deprivation, some combination, gene therapy or something completely new?A. Genzyme is committed to continually helping people with Fabry disease achieve their best possible health. Part of this means that we strive to help physicians understand how to use enzyme replacement optimally, including starting therapy before irreversible damage has taken place and using the optimal dose of ERT.

For example, recent results from studies that we have funded have shown that certain cells in the kidney (renal podocytes) may have a larger role in development of kidney failure than we previously thought, and that early treatment with 1.0 mg/kg of Fabrazyme every other week can rid these

WELCOME

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FABRAZYME Q&A, continued from page 1

In our Fall 2012 newsletter, a photo caption a c c o m p a n y i n g an article about Fabry patient Daniel Delacruz m e n t i o n e d that he has a daughter, which he does not.

We regret the error.

RETRACTION

cells of the molecule that accumulates in Fabry disease. These kinds of insights help physicians make the best possible treatment decisions for their patients with Fabry.

Genzyme’s concern for improving patient care is also shown by continuing research to develop therapies beyond ERT. We are excited about a new oral medication that could inhibit the production of the molecule that accumulates in Fabry disease. It is currently in the preclinical phase of development and should be ready to move to clinical development this year. It is not clear if this would replace ERT or be combined with it, but all possibilities will be explored.Q. What new services or reminder of existing services does Genzyme have to help the patient community?A. Internally, Genzyme has recognized that the case management team is the crucial front line in contact with the patient community providing all important support and services to them. Genzyme is striving to provide the most comprehensive patient help and support they can, because a diagnosis of Fabry disease is a life-altering event for a patient and their family.

To accomplish this, Genzyme has a large staff dedicated to patient support as well as providing support to their Copay Assistance Program and support for Patient Services Inc. (PSI). The Copay Assistance Program has no income-based requirements and may be able to provide help with drug- and infusion-associated expenses. To check into this or PSI, please speak with your case manager at (800) 745-4447.

This will be a long journey, but Genzyme is committed to this effort and helping rare disease patients have the same opportunities as others. Thank you for this opportunity for the Fabry community to get to know me, and Genzyme, better.

today, and we continue to evaluate patients in this ongoing study. There is still an unmet medical need for Fabry disease treatments. Migalastat HCl may potentially offer an oral treatment for Fabry patients with amenable mutations based on these results from Study 011 and earlier clinical studies, and potentially forthcoming data from ongoing studies.”

John F. Crowley, Chairman and Chief Executive Officer of Amicus, stated, “The 6-month results presented today at the WORLD Symposium support our commitment to the ongoing development of migalastat HCl monotherapy. We look forward to reporting the 12-month results from this study to add to the entirety of the data that the FDA has indicated would support a potential U.S. conditional approval.”

Study 011 results from Stage 2 are anticipated in the second quarter of 2013. The U.S. Food and Drug Administration (FDA) has indicated that it will consider the entirety of the Stage 1 and Stage 2 efficacy and safety data from Study 011. A meeting with the agency is anticipated in mid-2013 to discuss the U.S. conditional approval pathway for migalastat HCl under subpart H. A second Phase 3 global registration study (Study 012) is also underway to compare open-label migalastat HCl to ERT to primarily support global registration. Study 012 (The ATTRACT, or FAB-AT1001-012 Study) is a randomized, open-label 18-month Phase 3 study investigating the safety and efficacy of oral migalastat HCl 150 mg QOD compared to standard-of-care infused therapy using ERTs (Fabrazyme® and Replagal®). This study achieved final enrollment of 60 total patients in December 2012.

About Migalastat HClAmicus in collaboration with

GlaxoSmithKline (GSK) is developing the investigational pharmacological chaperone migalastat HCl for the treatment of Fabry disease. As a monotherapy, migalastat HCl is designed to bind to and stabilize, or “chaperone” a patient’s own alpha-galactosidase A (alpha-Gal A) enzyme in those patients with genetic mutations that are amenable to this chaperone in a cell-based assay. Oral migalastat HCl monotherapy is in Phase 3 development (Study 011 and Study 012) for Fabry patients with amenable mutations.

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STUDY HIGHLIGHTS: Oral Migalastat HCl

DRUG UPDATESdouble-blind period (Stage 1) when subjects received migalastat HCl 150 mg or placebo, a 6-month open label-follow up period (Stage 2) when all patients received migalastat HCl, and an ongoing 12-month open-label extension.

In the primary responder analysis, 13/32 (41%) in the migalastat HCl group versus 9/32 (28%) in the placebo group demonstrated a 50% or greater reduction in kidney interstitial capillary GL-3 from baseline to month 6 (p=0.3). Taken alone the secondary analysis of the absolute percent change in kidney interstitial capillary GL-3 from baseline to month 6 showed a median reduction of 41% in the migalastat HCl group versus a median reduction of 6% in the placebo group (p=0.093).

Study 011 entry criteria, particularly

elevated urine GL-3, were intended to enrich for patients with higher interstitial capillary GL-3, and more measurable disease burden. Although all patients had detectable interstitial capillary GL-3 at baseline, a number of patients had low levels of GL-3 at baseline, making it difficult to detect a significant difference in responders between the 2 treatment groups.

Clearance of kidney interstitial capillary GL-3, a marker of treatment effect, is being measured by histology in evaluable kidney biopsies from baseline to month 6 (Stage 1) as well as baseline to month 12 (Stage 2). Stage 2 results remain blinded at this time.

Dr. Ezgu said, “The 6-month data from Study 011 are encouraging, including a post-hoc subgroup analysis presented

AMICUS, continued from page 1

No drug-related serious adverse eventshave been observed during the first 6 months. No subjects dis-continued migalastat HCl therapy due to a treatment-emergent ad-verse event, and the majority of adverse events in both treatment groups were mild in nature.

Initial top-line Stage 1 results did not meet statistical significance (reported in December 2012 for the primary endpoint in Stage 1). Migalastat HCl numerically favored over placebo in pre-specified primary and second-ary analyses of the primary endpoint.

Renal function remained stable (from Baseline to Month 6) and changes from baseline were similar in both treatment groups during stage 1.

64% with severe Fabry responded to treatment, vs. 14% on placeboIn a post-hoc subgroupanalysis, patients with a higher baseline disease burden (0.3 inclusions or more per interstitial capillary, n=25) were compared to those with a lower baseline disease burden (0.3 or fewer inclusions per interstitial capil-lary, n=35). In the 25 patients (14 males and 11 females) with higher baseline disease burden, 7/11 (64%) on migalastat HCl and 2/14 (14%) on placebo were classified as responders.

32% with less-severe Fabry respond-ed to treatment, vs. 44% on placeboAmong the 35 patients (8 males and 27 females) with lower base-line disease burden, 6/19 (32%) on migalastat HCl and 7/16 (44%) on placebo were classified as responders.

PHOTOS COURTESY OF COURTNAY MIDKIFF

TUMBLER Post: Tuesday 3/19 1:15pm Boone, NC - Supposed to get hit with more snow this weekend. So I decided I would get strapped up with some skis!

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By Courtnay Midkiff Posted on FirstGiving.com

My name is Courtnay Midkiff. I am 23 years old and I suffer from an illness called Fabry disease. What is Fabry disease? Fabry is a very rare genetic disorder … symptoms range from the inability to sweat, stomach problems, fatigue and chronic pain in the fingers and toes, to severe symptoms, including potentially life-threatening impacts such as kidney failure, heart attacks and strokes (which my brother, who also suffers from Fabry, experienced in November 2011 at the age of 26) … there is a treatment for Fabry, but currently no cure.

On March 1, 2013, I will embark on a backpacking trip from coast to coast. I am taking this on with the sole purpose of raising

awareness of this little known and chronic disease, and hope to raise $1,000,000 to support a great organization that helps people like me, The National Fabry Disease Foundation (NFDF).

This backpacking trip will, I believe, provide dual benefits, both of which would be positive for the Fabry community. On one hand, I intend to raise money to help further research and development of treatment; and on the other hand, I expect to give those diagnosed hope, by showing that just because we have Fabry, doesn’t mean we can’t be as active as anyone else.

Living with Fabry has made me a stronger person and taught me to never give up or quit anything. Even with the chronic pains in my hands and feet, I’ve had a very active life thus far: I am an Eagle Scout, I love camping and

Coast to coast for the cause

hiking and all sorts of adventures. I also like biking, swimming, surfing, rock climbing and cliff jumping. No matter what condition I am in I will always explore, travel and be adventurous.

My trip will start on March 1 from Virginia Beach and I will be walking through 10 states and nearly 3,000 miles of the United States to the Pacific Ocean in California. I will document the entire trip with pictures and videos, and update a website/blog with a weekly video. I will carry cameras and a laptop to view and edit the website and videos from the road. I will be showing my progress on the walk, and the sites I stop in. I’m going to be sleeping in tent and sleeping bag and making my own meals for most of the trip, so I am anticipating an interesting and exciting journey.

SEE IT ONLINE!

Check out the full timeline, photos and posts from Courtnay’s

journey at:facebook.com/pages/The-Fabrys-Walkabout/139339526238705

and fabryswalkabout.tumblr.com

Courtnay can be contacted with questions and comments at:

courtnayxmidkiff@gmail.com

WALKING FOR FABRY

Making camp at another stop on the road.

be considered as organ donors,” said Dorry Segev, an associate professor of surgery at the Johns Hopkins University School of Medicine, whose colleagues operated on the Browns.

Many of the nation’s transplant centers agree, at least in part. More than half of them do not have upper age limits for kidney transplant recipients.

But physicians are conservative about living kidney donors: Nearly three-quarters of transplant centers have not accepted organs from people older than 70, according to Johns Hopkins research.

Caution makes sense because the long-term effects of kidney donation on older adults are unknown, Sameh Abul-Ezz, a professor of nephrology at the University of Arkansas for Medical Sciences, noted in a 2010 commentary in the journal Kidney International.

In 2011, 96 people age 65 and older served as living kidney donors in the United States; altogether, 1,382 older adults have done so since 1988, according to data from the United Network for Organ Sharing, which manages the nation’s transplant system.

Between 1990 and 2010, 219 men and women between the ages of 70 and 84 donated kidneys, according to an article published in 2011 by Segev and colleagues. Most commonly, these seniors gave the organs to middle-aged and older adults that they know well, unlike the system that distributes kidneys from deceased donors anonymously.

SOURCE: kaiserhealthnews.org/Stories/2013/January/29/kidney-donation-older-age-70.aspx

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Want another way you, your family and friends can raise funds to fight Fabry?

In the United States, many employers have what’s known as an “Employer Matching Donation Program,” which is designed to boost their employee’s donations to worthy causes. It can be an additional source of revenue for nonprofit organizations, but it often goes underutilized.

According to the Foundation Center in the United States, there are approximately 1,700 corporate giving programs as well as 3,300 company foundations. A worker may be unaware that his or her employer will match —dollar for dollar—their donation to a favorite charity.

Often these same individuals are unaware that their favorite charity is eligible to receive these philanthropic gifts. Through constant communication with its supporters, a rare disease organization can reap the benefits of this little-known and underused employee benefit.

So let it be know, FSIG is happy to accept your gifts as well as those of your employer!

By Jonathan JenkinsQMI Agency

(December 11, 2012) - Unable to donate an organ himself, Khaled Khatib will walk from Parliament Hill to Queen’s Park to promote the idea of living donors.

“I’m doing this to save people’s lives,” Khatib, 21, said Tuesday of his planned 18-day trek, set for February.

The issue is close to Khatib’s heart—his brother Ahmed was accidentally shot dead by an Israeli soldier in 2005 and the family’s decision to donate his organs to Israeli children has been held as a symbol of reconciliation in the Middle East.

Now Khatib lives here but his status doesn’t allow him to donate an organ himself. So instead he’s raising awareness of the issue.

He has already finished a 72-town tour of Ontario as a Torch of Life bearer for Helene

Campbell, the young Ottawa woman now recovering from a double-lung transplant. Khatib’s hope is that his 498-km walk will turn up a living kidney donor for Anthony Socci, 28.

“Obviously, I can’t thank Khaled enough for his efforts—and the other people here today,” Socci said. “As everybody has stated, it’s not an easy journey, not only for me, but there’s a lot of people out there who need help.”

Socci requires four hours of dialysis every day because Fabry disease has ruined his kidneys.

George Marcello, the CEO of Step By Step, the organization behind Khatib’s walk, said Canada desperately needs to increase the number of organ donors, especially live donors.

“Deceased donors will never meet the demand,” Marcello said. “We need to take a 90-degree turn here and focus on live donors.”

SOURCE: sunnewsnetwork.ca/sunnews/canada/archives/2012/12/20121211-173234.html

Seeking kidney... using feetMan hopes Canadian trek will attract live donor for Fabry friend

GOT A MATCH?Your employer may support your cause

Source: Genzyme Rare Community blog

Making camp at another stop on the road.

Kidney donation over age 70? Sure! By Judith GrahamKaiser Health News, with The Washington Post

(January 28) - Robert Brown was healthy, willing and a good match: So why not give a kidney to his wife, who otherwise would need dialysis?

There was just one potential obstacle: Brown was 74, an age once unthinkable for a kidney donor.

For this retired psychologist from Columbia, that wasn’t an issue. “I didn’t think about the age thing, not at all,” Brown said, describing his decision two years ago to offer a kidney to his wife, Sue, then 71 and ill with Fabry disease, a rare genetic disorder that can lead to a harmful buildup of fat in the kidneys.

For the Browns’ physicians, what counted was the couple’s physiological age—how healthy and strong both of them were—rather than their chronological age.

“We feel very strongly that healthy older adults should receive organ transplants and

Although older kidney donors haven’t been studied extensively,

a handful of reports suggest that this surgery is safe and complications are relatively

uncommon when donors are carefully selected.

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“We are pleased to have PRX-102 enter the clinic this year as planned. We believe PRX-102 may eventually serve as an alternative treatment for Fabry patients with the potential to be an improved enzyme replacement therapy,” said Dr. Einat Brill Almon, the company’s senior vice president, product development. “PRX-102 is manufactured using ProCellEx®, our proprietary recombinant protein

expression system which uses genetically engineered plant cells to produce specific protein products. ELELYSOTM, our first commercial product which was approved by the U.S. Food and Drug Administration in May 2012, is also manufactured through ProCellEx.”

The phase I/II clinical trial is a worldwide, multi-center, open label, dose ranging study to evaluate the safety, tolerability,

PROTALIX, continued from page 1

From Spotlight on Rare Diseases NewsletterReprinted with permission

The Lysosomal Disease Network (LDN) is the largest con-sortium in the Rare Diseases Clinical Research Network (RDCRN). The mission of the LDN is to conduct seminal longitudinal clinical research on several of the 50+ lyso-somal diseases by creating a network of expert medical research investigators and centers, and to seek solutions applicable to the broader lysosomal community.

Currently, the LDN is completing 11 longitudinal studies and 4 pilot projects. During the first 3 years of funding,

the LDN initiated, conducted, and completed 6 addition-al pilot projects for a total of 21 active studies. Twelve academic sites directly participate in this work. Several PIs have engaged sub-investigators at other institutions creating an engaged, creative group representing some of the best in the field of lysosomal research. This is enhanced by collaborative work with patient advocacy groups representing individual lysosomal conditions.

As with all rare diseases research, the ability to iden-tify potential subjects who meet study parameters is the largest challenge the LDN faces. Thus, the LDN is par-ticularly proud to have enrolled approximately 250 study participants in LDN projects to date.

Eight LDN projects are being conducted at the Univer-sity of Minnesota. They are focused on the mucopoly-saccharidoses (MPS) conditions, hexosaminidase defi-ciency (Tay-Sachs and Sandhoff disease), Fabry disease, and Gaucher disease. Other sites are Duke University (Pompe disease), the Mayo Clinic and NIH (Niemann-Pick type C), Greenwood Genetic Center (glycoproteino-ses), University of Cincinnati (Wolman disease), Cornell University (late-infantile neuronal ceroid lipofuscinosis ), Baylor Research Institute (mucolipidosis type IV), and University of Rochester (Batten disease). Other affiliat-ed sites include, University of Utah, Oakland Children's Hospital, Hospital for Sick Children in Toronto, Oregon Health & Science University, New York University, Emory, Harbor UCLA, and the University of Chicago.

The LDN holds webinars that are open to the public on the second Thursday of every month. They convened for the 9th annual research meeting WORLD Symposium 2013 February 12-15 at the Orlando Hilton. The meeting also served as a venue for collaborative meetings with patient advocacy groups and industry. The NIH-funded investigators met on the following Saturday for a review of progress and plans.

Originally published in the Rare Diseases Clinical Research Net-work’s Spotlight on Rare Diseases newsletter:

rarediseasesnetwork.epi.usf.edu/spotlight/fall2012/LDN/.

SPOTLIGHT: Lysosomal Disease Network

Doctors are using unbiased morphometric analysis of kidney biopsies from patients with Fabry disease to better understand relationships between pathological changes and kidney dysfunction, and to evaluate response to treatment.

pharmacokinetics and exploratory efficacy parameters of PRX-102 in adult Fabry patients. The trial is designed to enroll 18 adult Fabry patients, each in one of three dosing groups. Each patient will receive intravenous infusions of PRX-102 every two weeks for 12 weeks. After the completion of the protocol, the company intends to offer enrolled trial patients the option to continue to receive PRX-102 in an open-label extension study.

laboratory and radiologic services, both for pediatric and adult patients.

This allows them to provide true family-centered care and to easily follow children, adolescents as they transition to adulthood, and adults.

The center includes both pediatric and adult medical specialists from a variety of areas of medicine, including Genetics, Cardiology, Pulmonology, Nephrology, Gastroenterology, Hematology, Ophthal-mology, Orthopedics, and others.

supporting fundamental clinical and epidemiological research, and post-marketing surveillance of orphan drugs and treatments used off-label,” explained Anna Kole, associate director at NORD.

“Furthermore, and of great importance for patients and their families, they can be instrumental in supporting health and social services planning. Rare Disease Patient Registries are powerful, cost-effective instruments to improve the overall quality of care, quality of life, and survival of patients.”

NORD, EURORDIS, and CORD recognize that patient involvement is a key element in the successful establishment and long-term maintenance of rare disease patient registries and that many patient groups are already very active and capable in this role.

The document is significant in that it represents a common reflection and standpoint, on a significant global topic, from three of the most influential rare disease patient organizations on both sides of the Atlantic.

“It is expected that these common reflections and principles will serve as a reference for global stakeholders when shaping policies and taking actions in the field of rare disease patient registries. NORD is particularly motivated to reflect these principles in its Rare Diseae Patient Registry Program,” said Peter L. Saltonstall, NORD president and CEO.

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Joint Declaration of 10 Key Principles for Rare Disease Patient Registries

Improving patient registriesNORD, EURORDIS, CORD declare 10 key principles

1. Patient registries should be recognized as a global priority in the field of rare diseases.2. Rare disease patient registries should encompass the widest geographic scope possible.3. Rare disease patient registries should be centered on a disease or group of diseases rather than a therapeutic intervention.4. Interoperability and harmonization between rare disease patient registries should be consistently pursued.5. A minimum set of common data elements should be consistently used in all rare disease patient registries.6. Rare disease patient registries data should be linked with

RARE DISEASE COMMUNITY

Press Release

For the first time, on behalf of an estimated 60 million people living with rare diseases in Europe and North America, the National Organization for Rare Disorders (NORD), the European Organisation for Rare Diseases (EURORDIS) and the

Canadian Organization for Rare Disorders (CORD) have released a joint declaration on common principles regarding rare disease patient registries.

“In 10 key points, NORD, EURORDIS, and CORD recognize that Rare Disease Patient Registries constitute key instruments for increasing knowledge on rare diseases,

corresponding biobank data.7. Rare disease patient registries should include data directly reported by patients along with data reported by healthcare professionals.

8. Public-private partnerships should be encouraged to ensure sustainability of Rare Disease patient registries.

9. Patients should be equally involved with other stakeholders in the governance of rare disease patient registries.

10. Rare disease patient registries should serve as key instruments for building and empowering patient communities.

Press Release

Tufts Medical Center of Boston is pleased to introduce the Multidisciplinary Lysosomal Storage Disease clinic, focused on diagnosis and multi-system managements of lysosomal storage diseases, including Fabry disease.

Tufts Medical Center is an ideal center for such a clinic as the medical center maintains excellent integration of medical specialists and

New LSD clinic opens at Boston medical center

When the corrected cells circulate in the blood, they also secrete the enzyme, which is then taken up by unmodified cells. This ef-fectively extends the therapy afforded by the modified stem cells.”

Armstrong is currently receiving enzyme replacement therapy, which requires a home care nurse to visit his home every two weeks to administer the infusions. The disease has left Armstrong with a thickened wall in his heart.

“Even if the research meant that I had to come in once every six months for Enzyme Replacement Therapy, instead of every two weeks, then it would still be another step to-ward living a normal life,” Armstrong said

“We hope this will one day become a form of treatment that effectively cures Fabry dis-ease,” Dr. Aneal Khan, a medical geneticist who is leading the Calgary segment of the na-tional project, said in a press release.

Khan said if successful, the method could save Fabry sufferers from needing frequent enzyme replacement procedures and save the health system a lot of money.

“We hope it’s a one-time transplant,” he said. The team hopes to treat the first human Fab-

ry disease patient after several phases of the trial are complete and the pre-clinical experi-mental results have satisfied the regulatory requirements of Health Canada. They estimate that will happen within two years.

Learn more and watch Chris Armstrong in a video: http://calgary.ctvnews.ca/medical-trial-targets-cure-for-

fabry-disease-1.1128320#ixzz2J1U1EiBZ

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 64020-0510 Phone: (USA) 660-463-1355Toll-Free: (USA) 866-30-FABRYFax: (USA) 660-463-1356Web: www.fabry.orgEmail: info@fabry.org

LIKE US!

FSIG

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GENE THERAPY

By Melissa JamesFSIG ContributorCanadian researchers have begun the world’s first gene therapy clinical trial for Fabry. Prom-ising gene therapy results in mice performed in the laboratory of Dr. Jeffrey Medin at the University Health Network in Toronto prompt-ed this clinical trial.

The study, based in Toronto, will rely on ex-pertise from Calgary doctors and scientists, plus the cells of Canadian citizen Chris Arm-strong, 34, one of only 400 in the country known to suffer from Fabry.

Armstrong was diagnosed with Fabry in 2007 and recently donated his blood for impor-tant experiments for the first phase of the trial.

How the trial will work:1. Researchers first remove a quantity of stem cells from Armstrong’s blood2. A working copy of a new gene will be in-serted into the stem cells using a specially engineered virus3. Researchers transplant these stem cells back into Armstrong and the new, working copy of the gene will make the missing enzyme.

Nearly a billion of Armstrong’s CD34+ cells were isolated and will be sent to the lab in Toronto.

“We use a type of virus called a lentivirus, which has been modified in a couple of criti-cal ways,” Dr. Medin told the media. “First, it’s been stripped of any of its disease-causing capability and is safe. Second, it has the cor-rected functional GLA gene, which will cause the donor cells to make the correct enzyme.

Fabry stem-cell trial launched

Fabry stem cell donor Chris Armstrong gets a blood pressure check from geneticist Dr. Aneal Khan.

PHOTOGRAPH COURTESY OF TED RHODES, CALGARY HERALD

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

No ERT! I just want to live my life

Hello all! I’m hoping you are excited for the upcoming summer and all the good weather it will bring.

Something has been on my mind lately... teens may find this hard to believe, but every person with Fabry was a teenager at some point, including myself. I knew I needed help, but I acted like I didn’t need anyone and pretended to be OK. Once I finally talked about what was going on, it poured out of me and I immediately regretted that I didn’t talk sooner.

As my best friend always says, “Not asking for help is denying them the opportunity to be helpful.” Try communicating to someone, anyone, about what you are going through. If you think you can’t find anyone to talk to, email info@fabry.org with the header “Ask Amanda.” I will respond promptly and we can chat about anything. I want you to remember that though you are rare, you are not alone.

Amanda

DEAR DRAGON SLAYERZ,

By Anonymous“But why should I go on ERT? I don’t have that many issues with it. It’s like I barely have it at all!” I had stuck to this argument for so many years that I sounded like a broken record. “I don’t want to be stuck in the arm every other week!” He then replied, “You can always get a port.” I responded, “No! Then I’ll be super-different. Not only that but I don’t have time for infusions, I just want to live my life!”

It seemed like every week this conversation kept coming up. But honestly, I just wanted my life to stay as it was. My only symptoms of Fabry were some stomachaches and being tired all the time. I had a routine set up so it really didn’t affect my life that much. I would wake up tired, put cold water on my face, get on the bus and sleep until I got to school. The rest of the day was a series of bathroom visits and trips to the nurse’s office. I slept more after school, then at night went to bed for 10 or more hours.

This sedentary lifestyle and lack of interest in things led me to a bit of

depression. I remember going to the doctor and being told that it is probably just hormones and they would check my thyroid to be sure; there was nothing wrong with my thyroid. I started to be medicated at 18. I was diagnosed with literally everything under the sun. I was depressed, wait, no, I was bipolar. Well then I obviously have anxiety, or, wait, was it schizophrenia? The doctors would say, “We’ll just try this out and see how it works.” Gee, that’s reassuring. My mom has always taught me to

treat the symptom regardless what the overall problem is. We can find out the overall problem, once the symptom is taken care of. This advice would come in handy later. After I developed a strong committed relationship, and was able to communicate effectively and honestly, my boyfriend opened up pretty quick with his opinions about my constant illnesses. He had done his research on Fabry and knew more than I did since I never bothered to research it more. At f irst I was peeved that he was

telling me how to live my life. He told me that the way I was living my life can change if I just gave ERT a chance. He read that it had helped a lot of people with stomach issues and energy levels. This basically meant I could get off a lot of my sleep and pain meds. However, if it didn’t work, then I was missing classes for

See ERT, next page

I honest ly don’t know who came up with the

idea that having a rare dis

ease is bad for

people to know about. I don’

t think people pi ty me

when I tell them I have Fabr

y. I think people see

that I embrace i t and accept i ts un

iqueness. If you

feel helpless with this disea

se, chances are someone

else feels that way. Remember when you foun

d

out? How old were you? Don’t you wish you knew

about i t because i t was more publicized

? Wear the

Fabry wristband, donate to the ca

use, admit you are

a part of a rare set of pe

ople who are going through

problems similar to yours. You don’t have

to feel

helpless, because you were born into

a community;

you were born with Fabry.

DID YOU EVER FEEl...?

would do much to combat abuse.” Still, the Times points out that “the drug agen-cy is likely to follow” the recommendation.

The Hill (1/29, Wilson) reported in its “Regwatch” blog that Reps. Vern Buchanan (R-FL) and Edward Markey (D-MA) wrote to Food and Drug Admin-istration Commissioner Dr. Margaret Hamburg “urging her to move painkillers containing hydrocodone, such as Vico-din [acetaminophen and hydrocodone], from a Schedule III to a Schedule II drug. ... ‘Prescription drug abuse is wreaking havoc on countless families and commu-nities across our nation,’ Buchanan and Markey wrote, adding that the drugs ‘are now the most widely prescribed painkill-ers in the country, with more than 131 million prescriptions for hydrocodone written in 2010 alone.’”

In continuing coverage, CBS Evening News (2/8, Pelley) reported that the FDA “calls the abuse of prescription painkillers a major public health chal-lenge and today the FDA wrapped up a hearing on the drugs, including oxy-codone, Vicodin [acetaminophen and hydrocodone] and Percocet [acetamin-ophen and oxycodone].” CBS (LaPook) added that the agency is “focusing on education. Patients think ‘this is a safe drug, my doctor prescribed it, it’s FDA approved,’ but the FDA is trying to re-work that misconception.”

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nothing, my time had been wasted, and there would be no hope for me to “feel better” in the future; although I felt fine by my standards. When I st ill resisted, he surprised me with, “I don’t want you to

die.” I thought, how am I going to die? He saw the confused look on my face. “It doesn’t matter if you think Fabry isn’t affecting you now, it will later. You can have enlarged heart walls, kidney failure and strokes, which can all lead to you not being around anymore. I don’t want to lose you because I love you. You being alive is more precious than a few hours of time taken out of your day to get an infusion.”

I started ERT in October 2012. Unfortunately, I might have waited too long. I began developing pains in my hands and feet, nerve pains, even angiokeratomas. The disease was progressing and I was too blind to see it. I should have known that Fabry looks different in all people. But ERT has been working well for me, and I like the downtime to take a nap, watch TV and have a free lunch!

So I take my mom’s advice—treat the symptom and don’t always blame it on Fabry. Then I take my boyfriend’s advice—don’t be selfish, ask for help and know that it’s probably because of Fabry. And I make it into my own advice—admit you have Fabry and know there is something you can do about it. Don’t stop until both you and the symptoms are treated.

ERT, continued from previous page

AWARDS & UPDATESGENZYME HONORED; OFFERS AWARDS & SCHOLARSHIPSRare disease MD named Person of YearGenzyme announced on March 4 that its Head of Rare Diseases, Rogerio Vivaldi, MD, has been honored as the Genetic Disease Foundation’s Industry Person of the Year. The award is given to an individual in the life sciences industry who has made outstanding contributions to advancing medical research and bringing new therapies to people living with rare genetic diseases.

“For more than 20 years, Dr. Vivaldi has worked to identify the unmet needs of those living with rare genetic diseases, such as Gaucher disease,” said Elisa Ross, President of the Genetic Disease Foundation (GDF).

Genzyme UK honored by EURORDISGenzyme UK has been given the EURORDIS Company Award, which recognizes the accomplishments of companies dedicated to rare diseases. Genzyme was honored for pioneering the development and delivery of therapies for rare diseases, the main thrust of its business.

EURORDIS is the largest European patient organization in the field of rare diseases.

Scholarships offered to LSD patientsIn late March, Genzyme launched a new scholarship program for Fabry and other LSD patients attending college or a vocational training school. The eight scholarships are for $2,500 each.

To qualify, the student must demonstrate “the drive and commitment to chart their own course in life, despite the obstacles they may sometimes face.” Winners will be announced in early June 2013.

PAL awards worth up to $15KGenzyme is offering a Patient Advocacy Leadership (PAL) Award, a global competitive grant program for patient organizations that encourages them to develop bold new ideas to improve disease awareness, patient education, care and support for the LSD community.

PAL awards carry a maximum value of $15,000. If you have an idea for something FSIG could do to help the community, please contact us at info@fabry.org before May 30.

By Jack JohnsonFSIG Executive DirectorAs many of you know, pain can be a significant issue for those with Fabry disease. Opioid-based pain relievers such as hydrocodone are prescribed for some suffering with Fabry pain.

As a result, additional restrictions on prescriptions of this and related medi-cations would most certainly have an impact on the Fabry community.

The CBS Evening News (1/25, Pelley) reported that “an FDA advisory panel” has “recommended new restrictions on prescriptions and refills” of products containing hydrocodone.

The Los Angeles Times (1/26, Girion) re-ported that the panel “recommended Fri-day that the agency reclassify hydrocodo-ne...as a Schedule II narcotic, placing it in the same category as other widely abused medications, including OxyContin [oxyco-done] and fentanyl.” Should the agency approve “the change, patients would be able to get fewer hydrocodone pills at one time, and there would be more restrictions on refills. In addition, pharmacies would have to follow stricter procedures for han-dling and storing the drug.”

The New York Times (1/26, Tavernise, Subscription Publication) reported, how-ever, that “at 19 to 10, the vote was far from unanimous, with some opponents expressing skepticism that the change

FDA: More hydrocodone limits

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Contributions in Memory of...Kenny Bellamy by Pat BellamyWilliam Wayne Butler by Christine Butler and Jennifer SmithDavid Cruickshank by Margaret P. AstonClarence Gash by Don GashRobert Hand by Patricia HandAlan Larese, Mary Larese, Frank Finn & Janity Blea by Lori WiseDon Larsen by Margaret Larsen, Marc McGowan and Thurman, Comes, Foley & CO. LLPHilda L. Lubker by J.L. & M.E. Bragg and Carolyn LubkerJoseph Minskoff by Nancy LevyRicky Harold Mott by Elvis MottHenry W. Schweitzer, Jr. by Kathleen SchweitzerDean Fiene Sinnett by Don GashBennett Stern by Nancy LevyGreg Wyatt by Gail Riley

Contributions in Honor of...All Fabry patients not as lucky as myself by Graham HarnishLinda & Travis Banta by U.G. NealTroy Ritter by Melinda RitterJack Johnson by Melinda RitterDick Thomas & the Jost Family by Linda WeibelPaul Witt by Patricia Witt

Corporate and Industry SponsorsAmicus Therapeutics, Inc.Genzyme, a Sanofi CompanyShire HGTSchlesinger Associates, Inc.

Special Bequest ContributionWilliam J. Tingley

Other Valued ContributionsAnonymous Givers Alice BordelonCharles & Claudia BranhamHelen CaseyStaci CohenRandall & Lissa EskeMichael & Barbara FitzpatrickGoodSearchJohn & Darrel Barbara HoglundJay JohnsonHelen & Joseph KellerherLinda KeyesKaren LodenDavid & Mary LubkerRichard & Sara MorrisPeter & Christine RadaschAnna RuchBeverly SagerSchlesinger Associates, Inc.Robert SacksDeborah SchultzLinda TodsenEdward & Barbara Wing

FSIG relies on charitable donations to provide information, services, and support to the Fabry community. Help us with a donation today. Visit www.fabry.org to make an online donation, or write to:

Fabry Support & Information Group108 NE 2nd Street, Suite CP.O. Box 510Concordia, MO 64020

Help Us Help Each Other

ACKNOWLEDGMENTS

FSIG would like to express our gratitude to the many physicians, health care professionals, researchers, scientists, and industry working on our behalf. Their efforts are not always evident but make a great difference for us all.

FIGHTING FABRY

News from the Fabry Support & Information GroupFSIG Connection

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Dragon Slayerz Club ”But ERT would make me different!”

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