Firstly, we learned what lysosomal storage diseases are. Then we listened to short presentations about the general situation on LSD in individual countries. There are big differences between countries: some patients are treated very well, some are on humanitarian aid and many are still untreated. Some patients are not connected to each other and they feel isolated, whereas others are active members of patient associations. There are still patients who do not receive treatment due to logistical reasons (too far to go to hospital, cannot take a day-off).

We shared the examples of good practice and good experience (e.g. Fabry center in Slovenia, home therapy) and we promised to each other our further support and help. Following the lecture by Dr. Nadia Belmatoug (France) many questions about Gaucher disease were asked. The attendees were very satisfied with the workshops where we shared our personal experience about living with the disease. Seven workshops á 10-15 people were formed and different topics were discussed in different workshops (e.g. how to live as a patient or as a family member, socio-economic aspects, sharing group for physicians). The patients, family members and physicians spoke about everyday challenges they are confronted with. Our fears and problems are similar, no matter where we live. Fortunately, among us, there are many brave and generous persons who have already done a lot for the well-being of LSD patients. This brings hope and courage for our future activities and cooperation. We are happy that many physicians and nurses from all countries from our region attended the meeting. We are grateful to our physicians for their sustained efforts to improve the situation in the rare disease area.

We are grateful to Genzyme and Association XY who supported the meeting.

The organisers:
Borislav Đurić, Rare Disease Association of Bosnia and Herzegovina
Darinka Šulić, Serbian Gaucher Association
Davor Duboka, Serbian Gaucher Association
Vesna Stojmirova, Rare Disease Association “Life with Challenges”, Macedonia
Irena Žnidar, Slovenian Gaucher Association

Please contact Roman Pichler for more details:  pichler@liwest.at

Gaucher patients and physicians from Slovenia, Croatia, Bosnia and Herzegovina, Serbia, Montenegro, Kosovo and Macedonia are invited. Welcome are also participants from other countries.

More info: irena@eurogaucher.org.

On 3 July 2012, the Committee for Medicinal Products for Human Use (CHMP) recommended the refusal of a marketing authorisation for the medicinal product Elelyso (manufactured by Protalix Biotherapeutics, Israel and marketed outside of Israel by Pfizer Ltd), intended for the treatment of type 1 Gaucher disease.
The CHMP noted that the main study showed that Elelyso led to clinically relevant reductions in the size of the spleen as well as the liver. There were also improvements in haemoglobin levels and blood platelet counts. The side effects seen with Elelyso appear to be similar to those of other enzyme replacement therapies. The CHMP therefore concluded that the benefits of the medicine outweighed its risk in the treatment of type 1 Gaucher disease.
However, the CHMP also concluded that the medicine cannot be granted marketing authorisation in the EU because of the ten-year market exclusivity that had been granted for Vpriv, which was authorised in August 2010 for the same condition. Market exclusivity for orphan medicines is given as an incentive for companies to develop medicines for rare diseases, which may otherwise not be developed due to the high costs and small patient populations. The exclusivity means that another medicine cannot be authorised for the same condition if it is similar to the medicine already authorised. In this case, the CHMP concluded that Elelyso is similar to Vpriv (made by Shire Human Genetics), as they are both enzyme replacement therapies that work in the same way.
The CHMP also considered the legal exemptions that could have allowed Elelyso to be authorised in spite of Vpriv’s market exclusivity. The possible exemptions related to whether Elelyso was clinically superior to Vpriv and whether there were supply problems with Vpriv. However, the CHMP concluded that there is no good evidence that Elelyso would offer patients any important advantages over Vpriv or that Vpriv is in short supply. The Committee therefore recommended the refusal of the marketing authorisation.

The European Gaucher Alliance (EGA) wrote to the Chair of the CHMP and the European Commission to highlight the disappointment and dismay of the Gaucher patients in Europe by this recommendation.  Stressing that if this recommendation is accepted by the Commissioners that Gaucher patients within the European Union will be disadvantaged when compared to patients in the United States where the FDA has given authorisation to Elelyso as their doctors will not be able to offer the same range of alternative Enzyme replacement therapies. 
Despite all the lobbying of the EGA and the individual patient organisations in European, Pfizer were informed by the European Commission on Friday 2nd November 2012 that they were to follow the CHMP’s recommendation and not authorise Elelyso for marketing.

Gaucher patients in Europe currently participating in an Elelyso clinical trial will continue as planned in the protocol while other Elelyso patients should discuss their future treatment opportunities with their treating physicians.

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), today announced that ENGAGE, the first Phase 3 trial of its investigational oral therapy, eliglustat tartrate, in previously untreated patients with Gaucher disease type 1, met its primary endpoint. Patients treated with eliglustat tartrate had a statistically significant improvement in spleen size at nine months, compared with placebo.

“The efficacy and safety data from our ENGAGE trial are consistent with what were observed in our Phase 2 study, continuing to suggest that eliglustat tartrate is a potent, well tolerated oral compound that may become a meaningful option for patients and physicians” Spleen volumes in eliglustat tartrate treated patients decreased from baseline by a mean of 28 percent versus a mean increase of two percent in placebo patients, for an absolute difference of 30 percent (p<0.0001). In addition, all secondary endpoints were met, including improvements in hemoglobin levels and platelet levels, as well as liver volumes compared with placebo-treated individuals.

The initial safety analysis from ENGAGE suggests that eliglustat tartrate was well tolerated. There were no serious adverse events reported in the primary analysis period and no clinically meaningful differences in the related adverse events reported between the two treatment groups.

“The efficacy and safety data from our ENGAGE trial are consistent with what were observed in our Phase 2 study, continuing to suggest that eliglustat tartrate is a potent, well tolerated oral compound that may become a meaningful option for patients and physicians,” said Genzyme President and Chief Executive Officer, David Meeker, M.D. “The development of eliglustat tartrate has been underway for more than a decade and is the largest clinical program ever focused on Gaucher disease, demonstrating our ongoing commitment to innovation on behalf of this community.” Full results from the ENGAGE study are planned for presentation at the Lysosomal Disease Network WORLD meeting, February 12-15, 2013, in Orlando, Fla. Top-line data from Genzyme’s second Phase 3 trial, ENCORE, are expected in early 2013.

The company is developing eliglustat tartrate, a capsule taken orally, to provide a convenient treatment alternative for patients with Gaucher disease type 1, and to provide a broader range of treatment options for patients and physicians to achieve individual therapeutic goals. Currently, Genzyme’s Cerezyme® (imiglucerase for injection), the standard of care for patients with Gaucher disease type 1, is administered through intravenous infusions.

ENGAGE is a randomized, double-blind, placebo controlled study in treatment-naïve patients with Gaucher disease type 1 and evaluated the efficacy, safety and pharmacokinetics of twice-daily dosing of eliglustat tartrate in 40 patients untreated for at least six months. The study had a primary efficacy endpoint of improvement in spleen size in individual patients treated with eliglustat tartrate compared with treatment with placebo, after the nine month study period. Patients were stratified at baseline by their spleen volume. Thirty-nine out of 40 study participants completed at least nine months of treatment. One patient in the eliglustat treated group discontinued at six months for personal reasons. At the end of nine months, patients who were on placebo were transitioned to eliglustat tartrate. After the primary analysis period concluded, all 39 patients chose to remain on treatment. Eighteen medical centers in 12 countries in North America, South America, Europe, Asia and the Middle East are participating in this study. Genzyme previously reported that the 12-month Phase 2 trial had met its primary composite endpoint: a clinically meaningful response in at least two of three endpoints (improvements in spleen size, hemoglobin and platelet levels) in individual patients. All patients in the ongoing Phase 2 trial have been on treatment for at least five years.

Genzyme is currently completing the second Phase 3 study, ENCORE. ENCORE is a randomized, open-label study for adult patients with Gaucher disease type 1, designed to compare eliglustat tartrate to Cerezyme. One-hundred sixty adult patients were enrolled in this trial. A third trial, known as EDGE is also fully enrolled, and compares once-daily with twice-daily dosing of eliglustat tartrate. Combined, these trials represent the largest clinical program ever focused on Gaucher disease, with participating sites in over 30 countries. In total, more than 370 patients are enrolled in these studies.

About Gaucher disease

Gaucher disease is an inherited condition affecting fewer than 10,000 people worldwide. People with Gaucher disease do not have enough of an enzyme, ?-glucosidase (glucocerebrosidase) that breaks down a certain type of fat molecule. As a result, lipid engorged cells (called Gaucher cells) amass in different parts of the body, primarily the spleen, liver and bone marrow. Accumulation of Gaucher cells may cause spleen and liver enlargement, anemia, excessive bleeding and bruising, bone disease and a number of other signs and symptoms. The most common form of Gaucher disease, type 1, generally does not affect the brain.

About eliglustat tartrate

Eliglustat tartrate, a novel glucosylceramide analog given orally, is designed to partially inhibit the enzyme glucosylceramide synthase, which results in reduced production of glucosylceramide. Glucosylceramide is the substance that builds up in the cells and tissues of people with Gaucher disease. In preclinical studies, the molecule, developed with James A. Shayman, MD, from the University of Michigan, has shown high potency and specificity. Based on its mechanism of action, which is independent of genotype, eliglustat tartrate may be a potential therapy for all patients with Gaucher disease type 1. Initiation of the Phase 2 and 3 studies of eliglustat tartrate in Gaucher disease followed an extensive pre-clinical research effort and a Phase 1 program.

Cerezyme important safety information

Approximately 15 percent of patients have developed IgG antibodies to the infused enzyme. These patients have a higher risk of hypersensitivity reaction. Therefore periodic monitoring is suggested; caution should be exercised in patients with antibodies or prior symptoms of hypersensitivity. Symptoms suggestive of hypersensitivity occurred in 6.6 percent of patients, and include anaphylactoid reaction, pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis and hypotension. Reactions related to Cerezyme administration have been reported in less than 15 percent of patients. Each of the following events occurred in less than two percent of the total patient population. Reported adverse events include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache and tachycardia. Adverse events associated with the route of administration include discomfort, pruritus, burning, swelling or sterile abscess at the site of venipuncture. For full prescribing information, please visit www.genzyme.com.

CARMIEL, Israel, Sept. 27, 2012 (GLOBE NEWSWIRE) -- Protalix BioTherapeutics, Inc. (NYSE-MKT:PLX) (TASE:PLX), announced today that is has received marketing authorization from the Israeli Ministry of Health for ElelysoTM (taliglucerase alfa) for injection, an enzyme replacement therapy (ERT) for the long-term treatment of adults with Type 1 Gaucher disease. Elelyso will be marketed in Israel by Protalix Ltd., the holder of all marketing rights to Elelyso in the Israeli market.

This is the second marketing approval of Elelyso, which was approved by the U.S. Food and Drug Administration (FDA) on May 1, 2012.  Marketing applications have been filed in additional territories. Elelyso is marketed in the United States by the Company's commercialization partner, Pfizer Inc. ("Pfizer").

Under its development and commercialization arrangement with Pfizer, the Company maintained the commercialization rights to Elelyso in Israel. Accordingly, the Company has built an internal marketing team designed to serve the Israeli market. The Company intends to sell Elelyso in Israel at a competitive price compared to other products already available to Gaucher patients.  Over the past five years, the Company has treated over 60 Gaucher patients in Israel with Elelyso through clinical trials and compassionate use programs and expects that a substantial proportion of these patients will soon be treated through commercial programs.

Elelyso is the first plant cell-based biopharmaceutical approved for marketing by the Israeli Ministry of Health. It is also the first plant cell-expressed drug derived from ProCellEx® to achieve regulatory approval for marketing. ProCellEx is the Company's proprietary plant cell-based protein expression system. Elelyso is a form of the human lysosomal enzyme, glucocerebrosidase, used to treat Gaucher disease.

"We are very excited to have our first drug product approved in our home country," said Dr. David Aviezer, President and Chief Executive Officer of Protalix BioTherapeutics.  "In our development efforts, we enjoyed the cooperation of the leading Israeli medical and academic institutions, and we rely in part on support from research grants from the Israeli government. We are proud that our Gaucher disease treatment will be available for commercial sale in Israel."

The Israeli Ministry of Health's marketing authorization of Elelyso was based on its review of data compiled by the Company from its pivotal phase III clinical trial, as well as data from its extension trial in which treatment-naïve patients that were treated with taliglucerase alfa for a 24-month period, and from the Company's switchover trial which collected data from Gaucher patients that had previously been treated with imiglucerase (Cerezyme®) and were switched to treatment with taliglucerase alfa (Elelyso). 

"The Israeli approval of Elelyso is important for local Gaucher patients," said Mr. Yossi Cohen, Chairman of the Israeli Association for Gaucher. "Given the inconsistent supply of ERT for the treatment of Gaucher disease worldwide in recent years, we believe the addition of a new treatment for Gaucher patients will provide them with greater confidence regarding treatment. The fact that the product is manufactured locally by an Israeli company increases our excitement about this approval."

"The clinical studies of Elelyso to date, both the pivotal and the extension studies, demonstrate that Elelyso is an effective treatment for Gaucher disease," said Professor Ari Zimran, M.D., Director of the Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel. "The results of the Company's 24-month naive extension trial and switch over study support Elelyso as an important treatment alternative for Gaucher patients in Israel."

A seminar for young adult Gaucher patients

16th - 18th of November 2012 in Frankfurt, Germany

The EGA is organising an event for young adult Gaucher patients from all member associations, giving them a unique opportunity to exchange information and ideas. The EGA is convinced that this project will help to improve the quality of life of the participants, broaden their horizons and also support the work of finding and strengthening the future leaders of the EGA and its member associations.

more information about the event....

The U.S. Food and Drug Administration today approved Elelyso (taliglucerase alfa) for long-term enzyme replacement therapy to treat a form of Gaucher disease, a rare genetic disorder.

Gaucher disease occurs in people who do not produce enough of an enzyme called glucocerebrosidase. The enzyme deficiency causes fatty materials (lipids) to collect in the spleen, liver, kidneys, and other organs. The major signs of Gaucher disease include liver or spleen damage, low red blood cell counts (anemia), low blood platelet counts, and bone problems.

Elelyso is an injection that replaces the missing enzyme in patients with a confirmed diagnosis of Type 1 (non-neuropathic) Gaucher disease and should be administered by a health care professional every other week. Type 1 Gaucher disease is estimated to affect about 6,000 people in the United States.

“Today’s approval provides for a new enzyme replacement therapy for the select number of patients with Type 1 Gaucher disease,” said Julie Beitz, M.D., director of the Office of Drug Evaluation III in FDA’s Center for Drug Evaluation and Research. “It also demonstrates FDA’s commitment to developing treatments for rare diseases.”

Due to the small number of affected patients, the efficacy of Elelyso was evaluated in a total of 56 patients with Type 1 Gaucher disease enrolled in two clinical trials. Many of these patients continued treatment on a longer-term extension study.

In one multi-center, double-blind, parallel-dose trial, the efficacy of Elelyso for use as an initial therapy was evaluated in 31 adult patients who had not previously received enzyme replacement therapy. Patients were randomly selected to receive Elelyso at a dose of either 30 units per kilogram or 60 units/kg.

At both doses, Elelyso was effective in reducing spleen volume, the study’s primary endpoint, from baseline by an average of 29 percent in patients receiving the 30 units/kg dose and by an average of 40 percent in patients receiving the 60 units/kg dose after nine months of treatment. Improvements in liver volume, blood platelet counts, and red blood cell (hemoglobin) levels also were observed.

In the other study, the efficacy of Elelyso was assessed in 25 patients with Type 1 Gaucher disease who were switched from imiglucerase, another enzyme replacement therapy product. In this multi-center, open-label, single-arm trial, patients who had been receiving treatment with imiglucerase for at least two years were switched to Elelyso infusions every other week at the same dose of imiglucerase. Results showed Elelyso was effective in maintaining spleen and liver volumes, blood platelet counts, and hemoglobin levels over a nine month evaluation period.

The most common side effects reported during clinical studies were infusion reactions and allergic reactions. Symptoms of infusion reactions include headache, chest pain or discomfort, weakness, fatigue, hives, skin redness, increased blood pressure, back pain, joint pain, and flushing. As with other intravenous protein products, anaphylaxis has been observed in some patients during Elelyso infusions.

Other commonly observed side effects observed in greater than 10 percent of patients treated with Elelyso included upper respiratory tract infection, common cold-like symptoms (nasopharyngitis), joint pain (arthralgia), influenza, headache, extremity pain, back pain, and urinary tract infections.

Elelyso is manufactured and distributed by New York City-based Pfizer Inc., under license from Protalix BioTherapeutics Inc.

...and will continue to be a priority in the future, we have pledged to help any Gaucher patient who ask us for help where ever they live. However the “Gaucher-world” has changed over the last couple of years with the introduction of new therapies and new companies coming into the market and it is necessary to look at how best to approach the provision of humanitarian aid to ensure sustainability and security for patients and their families.

For this reason a very important meeting took place in Amsterdam at the Amsterdam Medical Centre on the 5th of October 2011, convened by the EWGGD and EGA. Read more...

European Medicines Agency Approval Adds Significant Capacity for the Manufacture of Shire’s Enzyme Replacement Therapies

Lexington, MA, US – February 22, 2012 – Shire plc (LSE: SHP, NASDAQ: SHPGY), the global specialty biopharmaceutical company, announced today that the European Medicines Agency’s (EMA) Committee for Medicinal Products for Human Use has approved the production of VPRIV® (velaglucerase alfa) in its new state-of-the-art manufacturing facility at 400 Shire Way in Lexington, MA. The European Commission’s decision is expected imminently.

“We welcome the news that Shire's new manufacturing facility in Lexington has received EMA approval for the production of VPRIV,” said Tanya Collin-Histed of the European Gaucher Alliance.  “This provides patients with greater comfort over the maintenance of supply of enzyme therapies for the treatment of Gaucher disease.” 

Shire now has two EMA approved facilities – Alewife, in Cambridge, MA, as well as the new Lexington facility – in which to manufacture VPRIV drug substance. This additional capacity will allow Shire to significantly increase global supply of VPRIV and provides additional manufacturing flexibility. The EMA approval is also a critical first step in releasing further capacity for the manufacturing of REPLAGAL® (agalsidase alfa) at Shire’s Alewife facility. The new facility increases bioreactor capacity from 1000 to 8000L, and is the first commercially licensed facility in the world to utilize single-use bioreactor and disposable technology throughout cell culture processing to reduce manufacturing risk.

“I am delighted to announce the EMA approval of our facility. Shire has invested strategically in new manufacturing facilities and state-of-the-art technology because we recognize the critical importance of ensuring the continuity of treatment for patients with rare and life-threatening diseases," said Bill Ciambrone, Senior Vice President, Technical Operations, Shire HGT. “The EMA approval of VPRIV in this manufacturing plant, only three years after breaking ground, is a testament to the hard work and dedication of Shire employees, and represents crucial additional capacity for manufacturing our enzyme replacement therapies for Gaucher and Fabry patients.”

About The 400 Shire Way Manufacturing Facility
Shire has invested over $200M in manufacturing infrastructure and technology to ensure that we maintain a reliable and consistent drug supply. In keeping with Shire’s corporate sustainability commitments, this new manufacturing plant has met the requirements for Leadership in Energy and Environmental Design (LEED) Certification and will receive formal recognition from the United States Green Building Council this quarter. In addition to increasing capacity and reducing manufacturing risk, utilization of single-use technology requires approximately 80% less water and 50% less energy than a conventional manufacturing plant.

About VPRIV (velaglucerase alfa)
VPRIV is made using Shire’s gene activation technology, in a human cell line. The enzyme produced has the exact human amino acid sequence as that found in the naturally occurring human enzyme.

VPRIV is used for the long-term treatment of patients with type 1 Gaucher disease.

VPRIV is approved in 38 countries globally, including the US, the European Union, and Israel and is for patients who are treatment-naïve as well as patients who have previously been treated with imiglucerase.

About REPLAGAL (agalsidase alfa)
REPLAGAL is a human form of enzyme alpha-galactosidase A (α-Gal A) manufactured in a human cell line by gene activation. 2011 marked the 15th year of clinical experience with REPLAGAL, which is now approved in 46 countries worldwide. REPLAGAL is not currently approved for commercial sale in the U.S.
REPLAGAL is the only human-cell-line-derived form of enzyme replacement therapy that is indicated for the long-term treatment of patients with a confirmed diagnosis of Fabry disease (α-Gal A deficiency).

VPRIV Important Safety Information
The most serious adverse reactions seen with VPRIV were hypersensitivity reactions. Infusion-related reactions were the most commonly observed adverse reactions in patients treated with VPRIV in clinical studies. The most commonly observed symptoms of infusion-related reactions were: headache, dizziness, low or high blood pressure, nausea, tiredness and weakness, and fever.  Generally the infusion-related reactions were mild and, in treatment-naïve patients, onset occurred mostly during the first 6 months of treatment and tended to occur less frequently with time.  
All adult side effects of VPRIV are considered relevant to children (ages 4 to 17 years). Side effects more commonly seen in children compared with adult patients included: upper respiratory tract infection, rash, aPTT prolonged, and fever. The safety of VPRIV has not been established in patients younger than 4 years of age.
VPRIV is not available in all countries and prescribing information may differ between countries.  Please consult your local prescribing information. Full prescribing information for VPRIV in the U.K. can be found at www.VPRIV.co.uk  

REPLAGAL Important Safety Information
The most serious adverse reactions seen with REPLAGAL were hypersensitivity reactions. Infusion-related reactions were the most commonly observed adverse reactions in patients treated with REPLAGAL in clinical studies. Most side effects are mild to moderate and include headache, tingling, numbness, tremors, fatigue, change in temperature sensation, increased blood pressure, upset stomach, diarrhea, coughing, sore throat, difficulty sleeping, change in the taste of food, change in smell, difficulty speaking, acne, dry skin and eye problems. About 1 out of 10 patients may have a reaction during or shortly after infusion of REPLAGAL. These effects include chills and facial flushing (warmth and redness).

REPLAGAL is not available in all countries and prescribing information may differ between countries.  Please consult your local prescribing information.

For further information please contact:

Investor Relations Eric Rojas (erojas@shire.com)
Sarah Elton Farr (seltonfarr@shire.com)
+1 781 482 0999
+44 1256 894 157

Media 
Jessica Mann (jmann@shire.com)

+44 1256 894 280
 Jessica Cotrone (jcotrone@shire.com)
+1 781 482 9538

Notes to editors

SHIRE PLC

Shire’s strategic goal is to become the leading specialty biopharmaceutical company that focuses on meeting the needs of the specialist physician. Shire focuses its business on attention deficit hyperactivity disorder (ADHD), human genetic therapies (HGT) and gastrointestinal (GI) diseases; regenerative medicine as well as opportunities in other therapeutic areas to the extent they arise through acquisitions. Shire’s in-licensing, merger and acquisition efforts are focused on products in specialist markets with strong intellectual property protection and global rights. Shire believes that a carefully selected and balanced portfolio of products with strategically aligned and relatively small-scale sales forces will deliver strong results.

For further information on Shire including the SmPC, please visit the Company’s website: www.shire.com.

"SAFE HARBOR" STATEMENT UNDER THE PRIVATE SECURITIES LITIGATION REFORM ACT OF 1995

Statements included herein that are not historical facts are forward-looking statements. Such forward-looking statements involve a number of risks and uncertainties and are subject to change at any time. In the event such risks or uncertainties materialize, Shire’s results could be materially adversely affected. The risks and uncertainties include, but are not limited to, risks associated with: the inherent uncertainty of research, development, approval, reimbursement, manufacturing and commercialization of Shire’s Specialty Pharmaceuticals, Human Genetic Therapies and Regenerative Medicine products, as well as the ability to secure new products for commercialization and/or development; government regulation of Shire’s products; Shire’s ability to manufacture its products in sufficient quantities to meet demand; the impact of competitive therapies on Shire’s products; Shire’s ability to register, maintain and enforce patents and other intellectual property rights relating to its products; Shire’s ability to obtain and maintain government and other third-party reimbursement for its products; and other risks and uncertainties detailed from time to time in Shire’s filings with the Securities and Exchange Commission

This year’s meeting will be held from June 28th to 30th, 2012 at the Novotel Paris Tour Eiffel in the heart of Paris, city of light, knowledge and culture.

The quality of the scientific content at the EWGGD meetings attracts an increasing number of participants with each edition. Our delegates are recognized experts in their fields, committed to both clinical and basic science in Gaucher disease.

Representatives from the European Gaucher Alliance, the patients’ association and a key partner of our conference, will share their experience and questions with the scientific community.

The medical community eagerly anticipates the results of basic science, clinical trials and registries highlights, to be announced during the meeting. Updated guidelines for the management of Gaucher disease will be released, taking into account the experience of different teams in various countries.

The Paris conference will offer a number of innovations in 2012. One of the new features is a practical session and workshop, dedicated to nurses and paramedics with the objective of better integrating their crucial role in patient management through medical education, based on new practices such as home therapy.

A special part of the programme will be oriented towards the emerging medical community, our younger colleagues. We aim to assist them in the acquisition of skills and experience through a dedicated workshop highlighting both typical and unusual clinical cases, presented and discussed in-depth.

Find more information about the program, abstracts, speakers and the organising committee of the 10th EWGGD Meeting in Paris at www.ewggd-paris.com.  Registration will be open from 20th February 2012.

Genzyme, a Sanofi company, announced today four-year follow-up data from patients enrolled in the phase 2 clinical trial for its investigational oral therapy for Gaucher disease type 1 known as eliglustat tartrate. Sustained or further improvements were observed across all endpoints, including markers of bone disease, at the four-year timepoint. The results will be presented for the first time this week at the Lysosomal Disease Network WORLD Symposium in San Diego, Calif.

Eliglustat tartrate, a capsule taken orally, is being developed to provide a convenient treatment alternative for adult patients with Gaucher disease type 1, and to offer a broader range of treatment options for patients and physicians to achieve individual therapeutic goals. Genzyme’s Cerezyme®
(imiglucerase for injection), the standard of care for patients with Gaucher disease type 1, is administered through intravenous infusions.

Genzyme previously reported that the 52-week phase 2 trial of eliglustat tartrate had met its primary composite endpoint: a clinically meaningful response in at least two of three endpoints (improvements in spleen size, hemoglobin and platelet levels) in individual patients. Patients have continued to receive eliglustat tartrate in the extension portion of the study for over four years. The data from patients on eliglustat after four years indicate continued or stabilized improvements across all endpoints:
 Spleen and liver volumes decreased from baseline by a mean of 63 percent and 28 percent respectively.
 Hemoglobin and platelet levels had increased from baseline by a mean of 2.3 g/dL and 95 percent respectively.
 All patients (100 percent) had met at least three of the four hematologic and visceral therapeutic goals established for enzyme replacement therapy
 These data also indicate continued improvement in bone mineral density by DXA, with a mean Tscore increase of 0.8 from baseline in the lumbar spine.

“Eliglustat tartrate represents a new hope for Gaucher disease type 1 patients,” said Manisha Balwani, MD, MS, Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine. “The option of an oral therapy offers convenience, expanded access to treatment and, most important, an improvement in the quality of life for patients. Eliglustat marks a potential paradigm shift in Gaucher treatment.”

“The four-year data from our phase 2 eliglustat study show very encouraging results, particularly the continued improvements observed in markers of bone disease," said Genzyme’s Head of Rare Diseases, Rogerio Vivaldi, M.D. “The efficacy of eliglustat tartrate, combined with its safety profile, demonstrate its potential to transform the treatment experience for the Gaucher community. We look forward to continuing our momentum in the phase 3 program.”

In the phase 2 study, the most common adverse events reported in greater than two patients through four years of treatment included viral infections (six patients), urinary tract and upper respiratory tract infections (four patients each), and nasopharyngitis, sinusitis, arthralgia, pain in extremity, headache, 2/3 increased blood pressure, abnormal nerve conduction study, abdominal pain, and diarrhea (three patients each). Ten drug-related adverse events, including one serious event, were reported in eight patients. All related events were mild in severity.

Genzyme has also fully enrolled all three phase 3 trials for the oral therapy. Combined, these trials represent the largest clinical program ever focused on Gaucher disease, with participating sites in over 30 countries. In total, more than 350 patients are enrolled in the phase 3 studies.

The first phase 3 trial, ENCORE, is a randomized, open-label study for adult patients with Gaucher disease type 1, designed to compare eliglustat tartrate to Cerezyme. Adult patients who previously received enzyme replacement therapy for at least three years and have reached their therapeutic goals are enrolled in this trial.

The second trial, ENGAGE, is a randomized, double-blind, placebo-controlled study for patients with Gaucher disease type 1 who were untreated or had not been on treatment for at least nine months prior to study entry.

Data from these pivotal registration studies are expected in the first half of 2013. A third trial, known as EDGE, compares once-daily dosing of eliglustat tartrate with twice-daily dosing.

Protalix BioTherapeutics, Inc. announced today that new clinical data on taliglucerase alfa will be presented at the 8th Annual Meeting of the Lysosomal Disease Network: WORLD Symposium 2012 being held February 8-10 in San Diego, California. Taliglucerase alfa is the Company's proprietary plant cell expressed recombinant form of human Glucocerebrosidase (GCD), which is being developed for the treatment of Gaucher disease.

Professor Ari Zimran, M.D., Director of the Gaucher Clinic, Shaare Zedek Medical Center, Jerusalem, Israel, is presenting long-term safety and efficacy data from the Company's double-blind, follow-on extension study of taliglucerase alfa for the treatment of Gaucher disease in naive patients. Eligible patients who completed nine months of treatment in the Company's pivotal phase III clinical trial were offered the opportunity to participate in the extension study and continue to receive taliglucerase alfa at the same dose they received in the phase III clinical trial for an additional 15 months in a blinded manner. Accordingly, the extension trial included two treatment groups; one treated with a 60 U/kg dose and the other with a 30 U/kg dose. The major endpoints of the study were spleen volume, liver volume, hemoglobin concentration, platelet count, and chitotriosidase activity. Twenty-six patients were enrolled in the extension trial which was performed in centers throughout Europe, Israel, North America, South America and South Africa.

Patients treated with taliglucerase alfa in the extension trial continued to demonstrate a statistically significant reduction in mean spleen volume after 24 months, compared with baseline, in both treatment groups. Both dosage groups demonstrated statistically significant mean reductions in spleen volume; reductions of 54.0% (p<0.0001) in the 60 U/kg group and of 41.0% (p<0.0001) in the 30 U/kg group. Statistically significant improvements were also observed in all secondary end points. Both groups demonstrated statistically significant mean reductions in liver volume; reductions of 17.5% (p<0.0003) in the 60 U/kg group and of 20.6% (p<0.0001) in the 30 U/kg group. Patients with Hepatomegaly demonstrated a reduction in liver volume of 25.2% (p<0.0001).
Statistically significant mean increases in hemoglobin concentration were also demonstrated by both groups; mean increases from baseline (from 11.6 g/DL to 13.9 g/DL (p<0.0020)) (25.8%) in the 60 U/kg group and mean increases from baseline (from 12.4 g/DL to 13.6 g/DL (p<0.0314)) (13.2%) in the 30 U/kg group. Anemic patients demonstrated a mean increase from baseline in hemoglobin concentration (from 9.5 g/DL to 12.9 g/DL (p<0.0013)) (40.8%).

The data also demonstrated statistically significant mean increases in platelet count for both groups; increases from 69,043 to 141,071 (p<0.0016) in the 60 U/kg group and from 64,900 to 93,333 (p<0.0105) in the 30 U/kg group.

Lastly, statistically significant mean reductions in chitotriosidase activity were demonstrated by both groups; a reduction of 76% (p<0.0001)) in the 60 U/kg group and of 61% (p<0.0001) in the 30 U/kg group.

"Pivotal and follow-up clinical studies of taliglucerase alfa to date demonstrate that taliglucerase alfa may be an effective treatment for Gaucher disease," said Dr. Ari Zimran. "The results of this 24 month extension trial suggest that taliglucerase alfa has the potential to become a treatment alternative for Gaucher disease patients should it be approved."

The safety analysis presented for both treatment groups demonstrates that taliglucerase alfa was well tolerated, and no drug related serious adverse events were reported. Two patients who participated in the extension trial developed neutralizing IgG antibodies that were determined to be positive in an in vitro assay, and were determined to be negative in a cell-based assay. In addition, one patient in the 60 U/kg dose group experienced a hypersensitivity reaction during month 10 of treatment. Treatment of this patient has been continued with premedication for an additional 32 months without any treatment related adverse event reported.

Gregory Pastores, M.D., Professor of Neurology and Pediatrics and Director of the Neurogenetics Laboratory at the New York University School of Medicine, is presenting at the WORLD 2012 Symposium the full results of all adult patients that participated in the Company's multi-center, open-label, nine month switchover trial of taliglucerase alfa for the treatment of Gaucher disease. In the switchover trial, patients with stable disease were switched from treatment via intravenous infusions of imiglucerase (Cerezyme (R)) to intravenous infusions of taliglucerase alfa every two weeks at an equivalent dose to the patient's previous imiglucerase dose. Twenty-six adult patients were enrolled in the switchover trial which was performed in centers throughout Europe, Israel, North America and Australia.

The results of the switchover trial demonstrate that over a nine-month treatment period of the study, patients remained stable with regard to the efficacy endpoints--spleen volume, liver volume, platelet count and hemoglobin concentration--after switching to taliglucerase alfa from imiglucerase. The safety analysis presented for the switchover trial demonstrates that taliglucerase alfa was well tolerated, and no drug related serious adverse events were reported. One patient developed neutralizing IgG antibodies that were determined to be positive in an in vitro assay, and were determined to be negative in a cell-based assay. Another patient experienced a hypersensitivity reaction, which was treated in a physician's office and resolved. The patient declined to continue infusions with premedication.

"The current findings are in accord with the interim observations made last year, which revealed maintenance of clinical benefit in patients switched from imiglucerase to taliglucerase across all doses. Additionally, all drug-related adverse effects were mild or moderate and transient in nature," said Dr. Gregory Pastores.

Laura van Dussen, M.D., of the Academic Medical Center, University of Amsterdam, is presenting long term bone marrow responses, as measured by Quantitative Chemical Shift Imaging (QCSI) MRI, following treatment of Gaucher disease patients with taliglucerase alfa. Eight patients from the Company's pivotal and extension trial had their fat fraction evaluated by QCSI. At 24 months, seven of the eight patients demonstrated significant improvement in fat fraction from baseline. One patient remained unchanged. In addition, four patients whose score for bone was determined to be "at risk" at baseline (fat fraction <0.23) were no longer classified as "at risk" according to the protocol after 24 months of treatment with taliglucerase alfa.

Marketing applications for taliglucerase alfa have been filed in the United States, Europe, Israel, Brazil and Australia. The U.S. Food and Drug Administration Prescription Drug User Fee Act (PDUFA) target action date for taliglucerase alfa is May 1, 2012.

I would like to thank you all who attended the first regional meeting of Gaucher patients, on 5th November 2011, in Čatež, Slovenia. I would also like to thank the colleagues from Genzyme for logistical and financial support.

More than 50 people from six countries (Slovenia, Croatia, Bosnia & Herzegovina, Macedonia, Bulgaria and Italy) attended the meeting:

- 10 Gaucher patients from Slovenia, i.e. more than 50 % of all Slovenian Gaucher patients,

- Ms Vlasta Zmazek, who as a chairman of Croatian Rare Disease Association represented Croatian Gaucher patients,

- 2 Gaucher patients from Bosnia and Herzegovina,
- 1 Gaucher patient from Macedonia,
- Ms Radoslava Tomova, board member of European Gaucher Alliance (EGA), Gaucher patient and a chairman of Bulgarian Gaucher Association, 
- Mr Borislav Đurić, a chairman of  Rare Disease Association of Bosnia and Herzegovina,
- 5 physicians who treat Gaucher patients,
- 3 nurses who, among other duties, teach Gaucher patients how to perform home therapy,

- family members and friends of Gaucher patients,
- 6 Genzyme representatives,
- 2 journalists.

This was the first regional meeting of Gaucher patients in this part of Europe and for some also the first opportunity to meet other Gaucher patients. It is of high value that we exchanged our experiences, met each other and learned a lot. I would like to thank Dr Samo Zver, Dr Polona Novak, Dr Lidija Kitanovski, Dr Majda Benedik Dolničar, Dr Bruno Bembi, Dr Toni Valković and Ms Branka Založnik for their excellent presentations on different aspects of Gaucher disease and its treatment. My thanks go also to Ms Radoslava Tomova and Ms Vlasta Zmazek for the presentations of organisations that represent the voice of Gaucher patients. Thanks too go to Dr Vukašin Andrić for the presentation of Genzyme company, as well as of Cerezyme production process. I am glad that many participants were asking questions and took an active part in discussion.

All who filled in the questionnaire have found the meeting interesting and would like to attend such a meeting also in the future. I am grateful for all your suggestions and responses written in the questionnaire leaflets.  Please feel free to send your further suggestions regarding future meetings or other activities of our Association to my e-mail or to info@gaucher-drustvo.si. This is also the address for all your inquiries regarding Gaucher disease. Additionally, I would like to invite you to visit the new European Gaucher Alliance (EGA) website: www.eurogaucher.org.

Irena Žnidar

Spoštovani,

Hvala vsem, ki ste se udeležili prvega regijskega srečanja gaucherjevih bolnikov, ki je potekalo 5. novembra 2011 v Čatežu. Hvala kolegom iz Genzyma za pomoč pri organizaciji in za financiranje srečanja.

Srečanja se je udeležilo več kot 50 ljudi iz šestih držav (Slovenija, Hrvaška, BiH, Makedonija, Bolgarija, Italija):
- 10 gaucherjevih bolnikov iz Slovenije, tj. več kot polovica vseh slovenskih gaucherjevih bolnikov,
- gospa Vlasta Zmazek, ki je kot predsednica Hrvaškega združenja za redke bolezni predstavljala gaucherjeve bolnike iz Hrvaške,
- 2 gaucherjevi bolnici iz Bosne in Hercegovine,
- 1 gaucherjeva bolnica iz Makedonije,
- gospa Radoslava Tomova, članica odbora Evropske zveze Gaucher (EGA), gaucherjeva bolnica in predsednica bolgarskega društva gaucherjevih bolnikov, 
- gospod Borislav Đurić, predsednik Združenja za redke bolezni BiH,
- 5 zdravnikov, ki zdravijo gaucherjeve bolnike,
- 3 medicinske sestre, ki med drugim usposabljajo gaucherjeve bolnike za infundiranje zdravila na domu,
- družinski člani in prijatelji gaucherjevih bolnikov,
- 6 predstavnikov Genzyma,
- 2 novinarki.

To je bilo prvo tovrstno srečanje v tem delu Evrope in za nekatere celo prva priložnost spoznati druge gaucherjeve bolnike. Dragoceno je, da smo si lahko izmenjali izkušnje, se spoznali med seboj ter se marsikaj novega naučili. Zahvaljujem se dr. Samu Zveru, dr. Poloni Novak, dr. Lidiji Kitanovski, dr. Majdi Benedik Dolničar, dr. Brunu Bembiju, dr. Toniju Valkoviću in s. Branki Založnik za izvrstne prezentacije različnih vidikov gaucherjeve bolezni in njene obravnave. Hvala gospema Radoslavi Tomovi in Vlasti Zmazek za predstavitev organizacij, kamor smo vključeni gaucherjevi bolniki. Hvala dr. Vukašinu Andriću za predstavitev podjetja Gezyme in predstavitev poteka proizvodnje zdravila cerezyme. Vesela sem, da je veliko prisotnih sodelovalo s svojimi vprašanji in diskusijo.

Vsem prisotnim, ki ste izpolnili vprašalnik, je bilo srečanje všeč in si še želite podobnih srečanj. Zahvaljujem se za vaše predloge in odzive, ki ste jih zapisali na vprašalnik. Vaše predloge in ideje glede prihodnjih srečanj, kot tudi glede drugih aktivnosti našega društva, lahko kadarkoli pošljete na moj naslov ali na info@gaucher-drustvo.si. To je tudi naslov za vse, kar vas zanima v zvezi z gaucherjevo boleznijo. Vabljeni tudi k ogledu nove spletne strani Evropske zveze Gaucher (EGA): www.eurogaucher.org.

V upanju da se kmalu ponovno vidimo, vas vse lepo pozdravljam,

Irena Žnidar

This launch takes place after several months of hard work by EGA Directors Tanya Collin-Histed and Pascal Niemeyer who have worked closely with Score Communications based in London, UK.
Special thanks to Teresa, from the Spanish Gaucher Association, as well as to Fern, from the Italian Gaucher Association, for the translation into their languages.

We hope you will like the new website and  would welcome your feedback by sending an email to:

info@eurogaucher.org 

Please do not hesitate to send us any suggestions for improvement or details about missing information.

We will publish more information, as well as the link to the official website of the event, as soon as we get them.

CETP will be reinstated now due to prolonged shortage of Cerezyme supplies and based on a recommendation of the European Medicine Agency (EMA).

Recommendations by EWGGD for monitoring during imiglucerase reduction or cessation of enzyme replacement therapy and during the recovery period:

Application process:

CETP board members:

Program coordinator and assistant:

CETP coordinating centre contact details: