The National Information
Centre for Metabolic Diseases

ENews Vol 1 No 15 July 2008

Welcome to the National Information and Advice Centre for Metabolic Diseases Research News Sheet - Vol 1 No 14.

The contents of this news sheet has been gathered from around the globe during our research to update our information on metabolic diseases.  The contents are general and not specific to our cause.

• Pompe Trials
  
• Gaucher Disease
  
• Galactosaemia Register
  
• Sickle Cell Anaemia Mutation
  
• Rett Syndrome Gene
  
• Morbus Morquio ERT
  
• Spinal Muscular Atrophy
  
• Phase III Clinical Trial of prGCD
  
• Disclaimer
  
• Subscribe
  

Amicus Therapeutics Begins Phase 2 Clinical Trial of AT2220 in Pompe Disease

Amicus Therapeutics, a biopharmaceutical company developing small molecule, orally-administered pharmacological chaperones for the treatment of human genetic diseases, today announced that it has initiated a Phase 2 clinical trial of AT2220 (1-deoxynojirimycin HCl), for the treatment of Pompe disease. Amicus will conduct the study in adult Pompe patients in clinical centers throughout North America and Europe. AT2220 is the third compound based on Amicus' pharmacological chaperone technology platform to enter Phase 2 clinical development.

"We look forward to evaluating AT2220 as a potential new oral therapeutic option for patients living with Pompe disease," said Barry J. Byrne, M.D., Ph.D., professor of pediatrics, molecular genetics and microbiology at the University of Florida in Gainesville and an investigator in the Phase 2 trial.

AT2220 is designed to selectively bind to, stabilize and elevate the cellular activity of acid alpha-glucosidase (GAA), the enzyme deficient in Pompe disease. This deficiency leads to lysosomal accumulation of glycogen inside cells, which is believed to cause the various symptoms of Pompe disease.

Amicus is initiating the multi-national, open-label Phase 2 clinical trial designed to enroll 18 adult patients diagnosed with Pompe disease. The primary objective of the study is to evaluate the safety and tolerability of different dosing regimens of AT2220 over a 12-week period. The study will also explore certain pharmacodynamic and pharmacokinetic measures including the effect of treatment with AT2220 on GAA activity and on glycogen levels in various cells and tissues. Additional objectives include preliminary assessments of pulmonary and skeletal muscle function. Participants who complete the study may be eligible to participate in a voluntary extension study that will further evaluate the effect of AT2220 on these functional parameters.

Additional information about the Phase 2 study will be posted at ClinicalTrials.gov.

Initiation of the Phase 2 study of AT2220 follows completion of an ex vivo response study as well as multiple Phase 1 studies of AT2220 in healthy volunteers. The ex vivo response study was designed to test the effect of AT2220 on various Pompe mutations. Blood and skin samples were collected from 30 Pompe patients (26 adults, three juveniles and one infant) who had a variety of GAA mutations. Cells derived from each patient were then treated with AT2220. Of the 26 patients with available data, 24 had cells that showed a dose responsive increase in GAA activity including 22 patients who had at least one copy of the common splice site mutation IVS1-13T>G. Data from the Phase 1 studies in 72 healthy volunteers demonstrated that AT2220 was generally safe and well tolerated at all doses evaluated with no drug-related serious adverse events.

Amicus is developing AT2220 as part of a strategic collaboration with Shire Human Genetic Therapies (HGT), a business unit of Shire plc, to develop and commercialize Amicus' three lead pharmacological chaperone compounds for lysosomal storage disorders. Under the agreement, Shire received commercial rights outside of the United States. Amicus retains all U.S. rights.

About Pompe Disease

Pompe disease affects an estimated 5,000-10,000 individuals world-wide and is clinically heterogeneous in the age of onset, the extent of organ involvement, and the rate of progression. The early onset form of the disease is the most severe, progresses most rapidly, and is characterized by musculoskeletal, pulmonary, gastrointestinal, and cardiac symptoms that usually lead to death from cardio-respiratory failure between 1 and 2 years of age. The late onset form of the disease begins between childhood and adulthood and has a slower rate of progression that is characterized by musculoskeletal and pulmonary symptoms that usually lead to progressive weakness and respiratory insufficiency. A high majority of patients have the late onset form of the disease. The U.S. Food and Drug Administration's Office of Orphan Products Development has granted orphan drug designation for the active ingredient in AT2220 in the United States.

About Amicus Therapeutics

Amicus Therapeutics is a biopharmaceutical company developing novel, oral therapeutics known as pharmacological chaperones for the treatment of a range of human genetic diseases. Pharmacological chaperone technology involves the use of small molecules that selectively bind to and stabilize proteins in cells, leading to improved protein folding and trafficking, and increased activity. Amicus is initially targeting lysosomal storage disorders, which are severe, chronic genetic diseases with unmet medical needs. Amicus has completed Phase 2 clinical trials of Amigal(TM) for the treatment of Fabry disease and is conducting Phase 2 clinical trials of Plicera(TM) for the treatment of Gaucher disease.

Forward-Looking Statements

Amicus cautions you that statements included in this press release that are not a description of historical facts are "forward-looking statements" within the meaning of Section 21E of the Private Securities Litigation Reform Act of 1995. Words such as, but not limited to, "look forward to," "believe," "expect," "anticipate," "estimate," "intend," "plan," "targets," "likely," "will," "would," "should" and "could," and similar expressions or words identify forward-looking statements. Such forward-looking statements are based upon current expectations that involve risks, changes in circumstances, assumptions and uncertainties. The inclusion of forward-looking statements should not be regarded as a representation by Amicus that any of its plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong. They can be affected by inaccurate assumptions Amicus might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the potential progress and results of clinical trials, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in the business of Amicus, including, without limitation: the potential that results of clinical or pre-clinical studies indicate that the product candidates are unsafe or ineffective; our dependence on third parties in the conduct of our clinical studies; further, the results of earlier clinical trials may not be predictive of future results; and other risks detailed in our annual Report on Form 10-K for the year ended December 31, 2007, and our other public filings with the Securities and Exchange Commission. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and Amicus undertakes no obligation to revise or update this news release to reflect events or circumstances after the date hereof. This caution is made under the safe harbor provisions of Section 21E of the Private Securities Litigation Reform Act of 1995.

http://www.amicustherapeutics.com

Highlight Potential of Novel Oral Compound for Gaucher Disease

CAMBRIDGE, Mass. – Genzyme Corp. (NASDAQ: GENZ) reported today that a preliminary analysis of data from an ongoing open-label Phase 2 clinical trial of its investigational oral therapy Genz-112638 showed that the compound produced a meaningful impact on key clinical manifestations of Gaucher disease. The results highlight the potential of this compound to become an innovative treatment option for Gaucher disease.

Genzyme's Cerezyme® (imiglucerase for injection), the standard of care for patients with Type 1 Gaucher disease, is administered through intravenous infusions. The company is developing Genz-112638, a capsule taken orally, to provide a convenient treatment alternative for patients and to provide a broader range of treatment options for physicians.

The primary analysis period of the Phase 2 study of Genz-112638 is scheduled to conclude later this year, and the results for all trial participants will be available in the first quarter of 2009. The study included 26 adults with Type 1 Gaucher disease at medical centers in North America, South America, Europe and Israel. It was designed to evaluate the efficacy, safety and pharmacokinetics of the compound over one year. Nearly all study participants had completed six months of treatment when the preliminary analysis was conducted, and approximately half of the participants had completed one year of treatment.

The preliminary analysis showed that Genz-112638 produced promising efficacy results at six months and that these results continued to improve through one year of treatment:

• At six months, spleen volumes had decreased from baseline by a mean of 27 percent among the 21 patients for whom data were available. Spleen volumes had decreased by 40 percent among 11 patients with available data at one year.
  
  
• At six months, hemoglobin levels had increased from baseline by a mean of 0.9 grams per deciliter of blood among 17 patients for whom data were available. Hemoglobin levels had increased by 1.3 grams per deciliter among 13 patients with available data at one year.
  
  
• Platelet counts increased from baseline by a mean of 18 percent among 17 patients treated for six months and by 34 percent among 13 patients with available data at one year.
  
  
• Chitotriosidase levels decreased from baseline by a mean of 30 percent at six months among 20 patients and by 50 percent among 12 patients treated for one year. Chitotriosidase commonly serves as a biomarker of Gaucher disease burden, allowing physicians to monitor patient response to treatment 
  
  

These preliminary results are consistent with results observed for patients beginning enzyme replacement therapy.

The analysis showed that drug-related adverse events seen in the trial occurred in a small number of patients, were mild and transient in nature, and did not require any medical intervention. The drug-related adverse events were diarrhea, abdominal pain, tachycardia, and headache.

Genzyme is currently developing protocols for two Phase 3 trials that it expects to initiate early next year. One trial is expected to include untreated Gaucher patients, and the other is expected to include patients previously treated with Cerezyme.

"We have set a very high bar in trying to develop an oral therapy for Gaucher disease given the remarkable impact that Cerezyme has had," said David P. Meeker, M.D., Genzyme's president of Lysosomal Storage Disorder Therapeutics. "We are excited by the potential of Genz-112638. The data we collect from this study and from the Phase 3 program will provide guidance on the roles that this compound may play in treating and maintaining patients with Gaucher disease."

Genzyme reported the results from the preliminary analysis of the Phase 2 study of Genz-112638 at its Analyst Day meeting held today in Boston.

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 that breaks down a certain type of fat molecule called glucocerebrosidase. As a result, cells fill up with the undigested fat in different parts of the body, primarily the liver, spleen 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, does not affect the brain or nervous system.

About Genz-112638

Genz-112638, a novel glucosylceramide analog given orally, is designed to inhibit the enzyme glucosylceramide synthase, which results in reduced production of glucocerebroside. Glucocerebrosidase is the substance that builds up in the cells and tissues of people with Gaucher disease. In preclinical studies, the molecule has shown high potency and specificity. Based on its mechanism of action, which is independent of genotype, Genz-112638 is a potential therapy for all patients with Type 1 Gaucher disease. Initiation of the Phase 2 study of Genz-112638 in Gaucher disease followed completion of an extensive pre-clinical research effort and a Phase 1 program that involved more than 120 subjects in three separate studies. In addition to Gaucher disease, there are a variety of other conditions including Fabry disease that can be caused by malfunctions in the pathway targeted by this molecule. The compound is exclusively licensed from the University of Michigan and was developed with James A. Shayman, M.D.

About Genzyme

One of the world's leading biotechnology companies, Genzyme is dedicated to making a major positive impact on the lives of people with serious diseases. Since 1981, the company has grown from a small start-up to a diversified enterprise with more than 10,000 employees in locations spanning the globe and 2007 revenues of $3.8 billion. In 2007, Genzyme was chosen to receive the National Medal of Technology, the highest honor awarded by the President of the United States for technological innovation.

With many established products and services helping patients in nearly 90 countries, Genzyme is a leader in the effort to develop and apply the most advanced technologies in the life sciences. The company's products and services are focused on rare inherited disorders, kidney disease, orthopaedics, cancer, transplant, and diagnostic testing. Genzyme's commitment to innovation continues today with a substantial development program focused on these fields, as well as immune disease, cardiovascular disease, and other areas of unmet medical need.

Genzyme Safe Harbor Statement

This press release contains forward-looking statements regarding Genzyme's future business plans including, without limitation, statements about the potential uses and benefits of Genz–112638; when final results from the Phase 2 study will be available; and future clinical trial plans and potential uses of the data from such clinical trials. These statements are subject to risks and uncertainties that could cause actual results to differ materially from those forecasted. These risks and uncertainties include, among others: the actual timing of the completion of the analysis of clinical study results; Genzyme's ability to accurately understand and predict the outcome and impact of its clinical studies related to Genz–112638; Genzyme's ability to continue to support its clinical and other development efforts related to Genz-112638; the actual efficacy and safety of Genz-112638; the outcome of discussions with regulatory authorities regarding clinical studies of Genz-112638; and the risks and uncertainties described in Genzyme's SEC reports filed under the Securities Exchange Act of 1934, including the factors discussed under the caption "Risk Factors" in Genzyme's Annual Report on Form 10-K for the year ended December 31, 2007. Genzyme cautions investors not to place substantial reliance on the forward-looking statements contained in this press release. These statements speak only as of today's date and Genzyme undertakes no obligation to update or revise the statements.

Genzyme® is a registered trademark of Genzyme Corporation. All rights reserved.

Genzyme's press releases and other company information are available at www.genzyme.com and by calling Genzyme's investor information line at 1-800-905-4369 within the United States or 1-678-999-4572 outside the United State 

The UK Galactosaemia Register

A new register has been set up of patients who have Galactosaemia. Galactosaemia is very rare disorder. Between 10 and 20 children are born every year with the disorder. The register has been set up with funding from the Galactosaemia Support Group. A register will make it is possible to make an estimation of the prevalence of Galactosaemia and to enable the patients to be contacted with regards to relevant research projects. Signing up to the register does not commit patients to take part in research and information is only sent out after it has been approved by the Medical Advisory Panel of the Galactosaemia Support Group.

Research workers will not be allowed to contact the families, as the data is held in the strictest confidentialty. Their research will have to be approved and the Register Coordinator will contact the family to ask if they would like to receive the information before they are contacted by the research worker.

The information that is collected will include the patients name, address, NHS number, sex, date of birth, name and address of the paediatrician and the date of diagnosis.

If you are interested in the register please discuss joining with your child's paediatrician or dietitian and then to contact Pat Portnoi, Galactosaemia Support Group, 5 Granville Park, Aughton, Lancs, L39 5DS.

Johns Hopkins Researchers Develop Human Stem Cell Line Containing Sickle Cell Anaemia Mutation

--Improved Adult Cell Reprogramming Methods Open Doors for Disease Research

 

Researchers at Johns Hopkins have established a human cell-based system for studying sickle cell anemia by reprogramming somatic cells to an embryonic stem cell like state. Publishing online in Stem Cells on May 29, the team describes a faster and more efficient method of reprogramming cells that might speed the development of stem cell therapies.

"We hope our new cell lines can open the doors for researchers who study diseases like sickle cell anemia that are limited by the lack of good experimental models," says Linzhao Cheng, Ph.D., an associate professor of gynecology and obstetrics, medicine and oncology and a member of the Johns Hopkins Institute for Cell Engineering.

The research team first sought to improve previously established methods for reprogramming of adult cells into so-called induced pluripotent stem (iPS) cells, which look and behave similarly to embryonic stem cells and can differentiate into many different cell types. After testing several different genes, they were able to improve reprogramming efficiency by adding a viral protein known as SV40 large T antigen.

Using both fetal and adult human skin cells, the researchers introduced the four genes previously reported sufficient for cell reprogramming and compared the efficiency of reprogramming in the presence or absence of large T antigen. Without large T, cells form embryonic stem cell-like clusters in three to four weeks. With large T, the cells started looking like embryonic stem cells in just 12 to 14 days.

"Not only did T speed up reprogramming, we also found that it increases the total number of reprogrammed cells, which is great because often in reprogramming, not all cells go all the way," says Cheng, who explains that rigorous follow-up tests are required to determine if the reprogrammed cells really behave like pluripotent embryonic stem cells. "Many of them look right but they're probably just half cooked-like a boiled egg, you just can't tell the difference by looking at the outside," he says.

Having established a faster, more efficient method, the team then reprogrammed human cells that contain the mutation associated with sickle cell anemia. Embryonic stem cell-like clusters were visible 14 days after they initiated reprogramming and from these clusters the researchers established three different cell lines that both look and behave like human embryonic stem cells.

"One challenge to studying blood diseases like sickle cell anemia is that blood stem cells can't be kept alive for very long in the lab, so researchers need to keep returning to patients for more cells to study," says Cheng. "Having these new cell lines available might enable some bigger projects, like screening for potential drugs."

The research was funded by the National Institutes of Health and the Johns Hopkins Institute for Cell Engineering. 

Authors on the paper are Prashant Mali, Zhaohui Ye, Holly Hammond, Xiaobing Yu, Jeffrey Lin, Guibin Chen, Jizhong Zou and Cheng, all of Hopkins.

On the Web:http://www.hopkins-ice.org/index.html
http://stemcells.alphamedpress.org/
Johns Hopkins Medicine
Media Relations and Public Affairs
Media Contact: Audrey Huang; 410-614-5105; audrey@jhmi.edu
May 29, 2008

NIH Researchers Find That Rett Syndrome Gene is Full of Surprises

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science1, shows that it is an "on" switch for a startlingly large number of genes.

Rett syndrome is caused by a deficiency of the MECP2 gene. It occurs almost exclusively in girls, robbing them of language, cognitive and fine motor skills around the time they are learning to walk. Having extra copies of MECP2 can also cause Rett-like symptoms.

By manipulating the number of copies of the MECP2 gene in mice, the authors of the new study found that it controls thousands of other genes, suppressing some, but activating most. The research was funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), both part of NIH.

"This study simultaneously upends prevailing ideas about the disease process in MECP2-related disorders, and hints at new therapeutic strategies," says NIH Director Elias Zerhouni, M.D.

Rett syndrome occurs predominantly in girls because the MECP2 gene is located on the X chromosome. In boys, who have only one X compared to girls' two, a deficiency of MECP2 tends to cause death during infancy. Girls with Rett syndrome tend to develop normally until about one year of age, and then regress in their language, cognitive and motor skills. They lose the words they have learned, as well as their skilled hand movements, which become replaced by repetitive wringing and clapping. Other common features include seizures, stunted growth and small brain size, mood disturbances, and sleep problems.

Duplications of MECP2 have been linked to another syndrome, which can cause Rett-like symptoms, and sometimes severe mental retardation, in boys.

MECP2's dual roles in gene repression and activation were "a total surprise," says the lead author of the new study, Huda Zoghbi, M.D., a professor at Baylor College of Medicine in Houston and an investigator of the Howard Hughes Medical Institute. Dr. Zoghbi led the team that first linked MECP2 deficiencies to Rett syndrome in 1999, also an NIH-funded effort. Many lines of evidence pointed to the MeCP2 protein as a gene repressor, and that is how experts in the field, including Dr. Zoghbi, have defined its function for the past 10 years.

Dr. Zoghbi did not intend to question that definition. She was interested in comparing Rett syndrome and MECP2 duplication syndrome, and in adding to the list of the few genes known to be regulated by MECP2.

Toward that end, she and her team analyzed gene activity patterns in the brains of mice with a MECP2 deficiency and in mice with a MECP2 duplication (MECP2+). Previous studies had revealed only subtle differences between the brains of normal and MECP2-mutant mice, but those studies measured gene activity throughout the brain. Dr. Zoghbi's group focused on a brain region called the hypothalamus, which is known to produce hormones that influence growth, mood, and the sleep-wake cycle – all of which typically become derailed in Rett syndrome.

Their analysis revealed nearly 2600 genes that are misregulated in both mouse models, with opposite patterns. The activity of about 2200 genes dropped in MECP2-deficient mice and spiked in MECP2+ mice, indicating that MECP2 is an activator for those genes. About 400 genes showed the reverse pattern, indicating that MECP2 is a repressor for those genes.

In other experiments, the researchers confirmed that the MeCP2 protein binds directly to several of the target genes. They also found evidence that MeCP2 collaborates with another protein known to serve as a gene activator. Among the genes activated by MeCP2, the researchers found many that encode neuropeptides, proteins that are secreted by nerve cells.

All of these results raise a number of challenges and opportunities for future research, Dr. Zoghbi says. Researchers could design effective therapies for Rett syndrome and MECP2 duplication syndrome by aiming at MeCP2's target genes, but first they would have to know which target genes are most relevant to neurological function. Also, given that the two disorders have opposite gene activity profiles, they might not respond to the same therapies.

The ideal therapy would aim closer to MECP2 itself, Dr. Zoghbi says.

"We know that the MeCP2 protein is important for orchestrating gene expression in neurons," Dr Zoghbi says. "To treat the disease, we may need to find a way to re-orchestrate gene expression. The challenge is to identify the immediate lieutenants of MeCP2, and co-opt them to take over when MeCP2 is not working."

NINDS (http://www.ninds.nih.gov) is the nation's primary supporter of biomedical research on the brain and nervous system. NICHD (http://www.nichd.nih.gov/) sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation.

For more information on Rett syndrome, visit http://www.ninds.nih.gov/disorders/rett/rett.htm or http://www.nichd.nih.gov/health/topics/Rett_Syndrome.cfm.

The National Institutes of Health (NIH) — The Nation's Medical Research Agency — includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. It is the primary federal agency for conducting and supporting basic, clinical and translational medical research, and it investigates the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

1 Chahrour M et al. "MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription." Science, May 30, 2008

Vivendy Therapeutics Ltd. Raises CHF 17mio in Series A Round of Financing

Basel and Munich, January 14, 2008 - BioMedInvest AG I, LSP Life Sciences

Partners and TVM Capital today announced the closing of a CHF 17.0 million Series A round of Vivendy Therapeutics Ltd., a bio-pharmaceutical company located in Basel, Switzerland.

Vivendy Therapeutics Ltd. is a pharmaceutical start up company that is developing an enzyme replacement therapy (ERT) for Morbus Morquio (Mucopolysaccharidosis (MPS) IVA), a rare lysosomal storage disease. Since it is a rare disease, it applies to orphandrug- status criteria in the United States, Europe and Japan. The new CEO, Dr. Roland Toder states: "With no drug therapy available, Morquio patients and their families experience prolonged and significant suffering. The ERT provides Morquio patients with the enzyme they are naturally lacking and therefore represents the first true therapy for this rare disease. We are pleased that we were able to attract such world class investors to our company at this important time in our development. We are confident that with their support, we will build on our promising preclinical results to advance the clinical development program of an enzyme replacement therapy for Morquio."

Today, there is no therapy for MPS IVA in place, therefore the development of Morbus Morquio ERT addresses unmet medical needs with a high chance of success due to the fact that Vivendy Therapeutics is applying the established strategy of ERT with the Morquio specific enzyme. Dr. Christoph Heinzen, Founder and Technical Director of Vivendy Therapeutics said: "We developed a specific recombinant human enzyme tailored to meet the particular requirements for Morbus Morquio - enhancing the efficacy of the therapy significantly."

Dr. Gerhard Ries, General Partner at BioMedInvest and member of Vivendy's Board of Directors is excited about Vivendy's ERT project: „We are delighted to be associated with this impressive team working on such an unbearable disease for which there is no cure. We strongly believe that Vivendy's ERT approach has a high chance of success."

Dr. Annegret de Baey-Diepolder, Partner at TVM Capital and member of Vivendy's

Board of Directors highlights: „The lean company structure addresses the need for increased capital efficiency in early stage development situations. "

Dr. Jörg Neerman, Partner at LSP and member of Vivendy's Board of Directors adds

„According to a new regulation within the EU an early access for MPS IVA patients to the new treatment can be provided. This would allow returns on investment earlier and before the total cost of product development has been expended."

About Vivendy Therapeutics Ltd.

Vivendy Therapeutics was founded in March 2006, as a spin-off of Inotech Biotechnologies AG. The company's mission is the development of an enzyme replacement therapy (ERT) for Morbus Morquio (Mucopolysaccharidosis - MPS IVA), a rare lysosomal storage disease, based on a gene deficiency with an incidence of 1 to 200 000 live births. MPS IVA represents 5% of the lysosomal storage disorders (LSDs).

Contact address:

Dr. Roland Toder, CEO
Vivendy Therapeutics Ltd.
Eulerstrasse 55
CH-4003 Basel
Switzerland
T: +49 160 9667 8480
E: toder@vivendy.ch
W: www.vivendy.ch

Genzyme Genetics Announces Launch of Carrier Testing and Prenatal Diagnosis for Spinal Muscular Atrophy

Genzyme Genetics, a business unit of Genzyme Corporation (NASDAQ: GENZ), announced today that it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. This test will enable couples who are planning a pregnancy, or who are already pregnant, to determine if they are carriers and at risk of having a baby with SMA.

"With no cure currently available, the best method for preventing SMA is carrier testing," said Deborah Heine, Executive Director of the Claire Altman Heine Foundation, a nonprofit organization devoted to promoting pan-ethnic SMA carrier screening.  "The availability of this test will now allow individuals and couples of childbearing age to make more informed reproductive decisions regarding the risk of SMA and, hopefully, prevent the suffering of losing a child to this devastating disease."

Deborah and Chris Heine lost their daughter, Claire, to SMA at the age of 9 months. The Heines were not offered SMA carrier screening during a pre-conception consultation and have worked since that time to implement pan-ethnic SMA carrier screening. 

The Genzyme Genetics SMA test offers results in approximately 7 to 11 days and is expected to have an approximately 94 percent detection rate of carriers overall and approximately the same detection rate for the most common and severe types of SMA in affected fetuses. SMA is characterized by progressive muscle degeneration of motor neurons, resulting in severe muscle weakness. In 60-70 percent of cases, children with SMA die from respiratory failure by age two.

Greater than 94% of SMA carriers have a deletion of one SMN1 gene. Genzyme's new test utilizes quantitative PCR (polymerase chain reaction), a technology that can determine the number of SMN1 genes. An individual with one SMN1 gene is a carrier of SMA; a fetus with no SMN1 genes will be affected with SMA. SMA is caused when both parents have only one SMN1 gene. Approximately one in 41 people is a carrier of the SMA-causing gene, resulting in an incidence rate of 1 in 6,000-10,000 births. If both parents are found to be carriers, prenatal diagnosis by chorionic villi sampling or amniocentesis is available.

"Carriers of SMA have no symptoms of the disease and rarely have a family history of SMA," says Stirling M. Puck, M.D., of Genzyme Genetics. "Therefore, carrier screening for this disease should be widely available to ensure people are aware of their chances of having a child with SMA. Advancements in technology have led to the ability to detect approximately 94 percent of carriers, and then to offer prenatal testing to at-risk parents; these advancements will help couples planning a pregnancy make informed decisions."

The rights to perform SMN1 testing are provided under license from Athena Diagnostics, part of Thermo Fisher Scientific Inc.

About SMA

SMA is an autosomal recessive disease which causes severe weakness in the muscles that control breathing, swallowing, head and neck control, walking and crawling. After cystic fibrosis, which is routinely screened for in the general population, SMA is the second most common lethal autosomal recessive disease in the United States. Other examples of autosomal recessive conditions include sickle cell anemia, and Tay-Sachs disease.

About Genzyme Genetics

Genzyme Genetics is a leading, nationwide provider of high quality genetic testing and genetic counseling services for physicians and their patients. With laboratories and counseling facilities located across the U.S., Genzyme Genetics offers extensive reproductive and cancer testing services, supported by innovative technology and a commitment to quality service and trusted information. Genzyme Genetics is a business unit of Genzyme Corporation.

In addition to SMA carrier testing and prenatal diagnosis, Genzyme offers a broad carrier test menu including cystic fibrosis testing with 97 mutations, fragile X testing and 11 carrier tests for the Ashkenazi Jewish population; an industry-leading cytogenetics program; an extensive maternal serum screening program (which includes first trimester, integrated and second trimester screening); and an innovative infertility testing program.

About Genzyme

One of the world's leading biotechnology companies, Genzyme is dedicated to making a major positive impact on the lives of people with serious diseases. Since 1981, the company has grown from a small start-up to a diversified enterprise with more than 10,000 employees in locations spanning the globe and 2007 revenues of $3.8 billion. In 2007, Genzyme was chosen to receive the National Medal of Technology, the highest honor awarded by the President of the United States for technological innovation.

With many established products and services helping patients in nearly 90 countries, Genzyme is a leader in the effort to develop and apply the most advanced technologies in the life sciences. The company's products and services are focused on rare inherited disorders, kidney disease, orthopaedics, cancer, transplant, and diagnostic testing. Genzyme's commitment to innovation continues today with a substantial development program focused on these fields, as well as immune disease, infectious disease, and other areas of unmet medical need.

Genzyme's press releases and other company information are available at www.genzyme.com and by calling Genzyme's investor information line at 1-800-905-4369 within the United States or 1-678-999-4572 outside the United States.

www.genzyme.com

Protalix BioTherapeutics to Initiate an Open-Label Extension Study for the Phase III Clinical Trial of prGCD

Protalix BioTherapeutics, Inc. (Amex: PLX), today announced that it intends to initiate a double-blind, follow-on extension study as part of the Company's on-going phase III clinical trial of its lead product candidate, prGCD, a proprietary plant cell expressed recombinant form of human Glucocerebrosidase (GCD) for the treatment of Gaucher disease, a lysosomal storage disorder in humans.

Eligible patients who have successfully completed treatment as part of the pivotal phase III clinical trial will be offered the opportunity to continue to be treated with prGCD at the same dose that they received in the trial. The objective of the proposed extension study is to compile additional information relating to the long term safety and efficacy of prGCD.

"We expect to enroll our first patient in the extension study in June," said Dr. David Aviezer, President and Chief Executive Officer of Protalix BioTherapeutics. "In addition, enrollment in our pivotal phase III clinical trial continues to progress and we are happy to announce that we have commenced recruitment at our European clinical sites, including the Royal Free Hospital of London, United Kingdom."

"We are encouraged by the clinical results to date, and look forward to reporting the results of the phase III clinical trial when they become available" said Professor Ari Zimran, M.D., Director of the Gaucher Clinic at Shaare Zedek Medical Center in Jerusalem and Principal Investigator for the trial. "The Gaucher disease community has a keen interest in developing new treatment options, particularly treatments that will be less expensive." Professor Zimran is a member of the Company's Scientific Advisory Board.

The pivotal phase III clinical trial of prGCD is a multi-center, randomized, double-blind, parallel group, dose-ranging trial to assess the safety and efficacy of prGCD in 30 naive patients suffering from Gaucher disease. In the trial, patients are selected randomly for one of two dosing arms and receive IV infusions every two weeks for nine months. The primary endpoint of the study is the change in spleen volume from baseline, as measured by MRI.

About Protalix BioTherapeutics

Protalix is a biopharmaceutical company. Its goal is to become a fully integrated biopharmaceutical company focused on the development and commercialization of proprietary recombinant therapeutic proteins to be expressed through its proprietary plant cell based expression system. Protalix's ProCellEx(TM) presents a proprietary method for the expression of recombinant proteins that Protalix believes will allow for the cost-effective, industrial-scale production of recombinant therapeutic proteins. Protalix is enrolling and treating patients in its pivotal phase III clinical trial in Israel, the United States and other locations for its lead product candidate, prGCD, for its enzyme replacement therapy for Gaucher disease, a lysosomal storage disorder in humans, and has reached an agreement with the United States Food and Drug Administration on the final design of the pivotal phase III clinical trial through the FDA's Special Protocol Assessment (SPA) process. Protalix is also advancing additional recombinant biopharmaceutical drug development programs.

Safe Harbor Statement:

To the extent that statements in this press release are not strictly historical, all such statements are forward-looking, and are made pursuant to the safe-harbor provisions of the Private Securities Litigation Reform Act of 1995. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual future experience and results to differ materially from the statements made. These statements are based on our current beliefs and expectations as to such future outcomes. Drug discovery and development involve a high degree of risk. Factors that might cause such a material difference include, among others, the risk that we may fail to satisfy certain conditions relating to grants we have received from the Office of the Chief Scientist of Israel's Ministry of Industry and Trade which may lead to our being required to refund grants previously received together with interest and penalties, the risk that the Office of the Chief Scientist may not deliver to us all of the funds awarded to us, uncertainties related to the ability to attract and retain partners for our technologies and products under development, the identification of lead compounds, the successful preclinical development of our products, the completion of clinical trials, the review process of the FDA, foreign regulatory bodies and other governmental regulation, and other factors described in our filings with the Securities and Exchange Commission. The statements are valid only as of the date hereof and we disclaim any obligation to update this information.

The Trout Group, LLC
Marcy Strickler, 646-378-2927
mstrickler@troutgroup.com

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