Four-Year Data from Phase 2 Trial of Genzyme Gaucher Disease Oral Compound Suggest Sustained or Continued Improvement Across All Endpoints

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), 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 tartrate 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 T-score 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 tartrate marks a potential paradigm shift in Gaucher treatment.”

“The four-year data from our phase 2 eliglustat tartrate study show very encouraging results, particularly the continued improvements observed in markers of bone disease," said Genzyme’s Head of Rare Diseases, Rogerio Vivaldi, MD. “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, 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.

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, β-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. Eliglustat tartrate was well-tolerated through 4 years in the phase 2 study and continues to have a safety profile that supports clinical investigation in phase 3 studies.

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

About Genzyme, a Sanofi Company

Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. We accomplish our goals through world-class research and with the compassion and commitment of our employees. With a focus on rare diseases and multiple sclerosis, we are dedicated to making a positive impact on the lives of the patients and families we serve. That goal guides and inspires us every day. Genzyme’s portfolio of transformative therapies, which are marketed in countries around the world, represents groundbreaking and life-saving advances in medicine. As a Sanofi company, Genzyme benefits from the reach and resources of one of the world’s largest pharmaceutical companies, with a shared commitment to improving the lives of patients. Learn more at

Genzyme® and Cerezyme® are registered trademarks of Genzyme Corporation. All rights reserved.

Although Dr. Balwani is a member of the Gaucher Registry advisory board, she receives no financial compensation for this service. Dr. Balwani received a one-time honorarium for her service at a scientific meeting sponsored by Genzyme.

Forward Looking Statements

This press release contains forward-looking statements as defined in the Private Securities Litigation Reform Act of 1995, as amended. Forward-looking statements are statements that are not historical facts. These statements include projections and estimates and their underlying assumptions, statements regarding plans, objectives, intentions and expectations with respect to future financial results, events, operations, services, product development and potential, and statements regarding future performance. Forward-looking statements are generally identified by the words “expects”, “anticipates”, “believes”, “intends”, “estimates”, “plans” and similar expressions. Although Sanofi’s management believes that the expectations reflected in such forward-looking statements are reasonable, investors are cautioned that forward-looking information and statements are subject to various risks and uncertainties, many of which are difficult to predict and generally beyond the control of Sanofi, that could cause actual results and developments to differ materially from those expressed in, or implied or projected by, the forward-looking information and statements. These risks and uncertainties include among other things, the uncertainties inherent in research and development, future clinical data and analysis, including post marketing, decisions by regulatory authorities, such as the FDA or the EMA, regarding whether and when to approve any drug, device or biological application that may be filed for any such product candidates as well as their decisions regarding labeling and other matters that could affect the availability or commercial potential of such products candidates, the absence of guarantee that the products candidates if approved will be commercially successful, the future approval and commercial success of therapeutic alternatives, the Group’s ability to benefit from external growth opportunities as well as those discussed or identified in the public filings with the SEC and the AMF made by Sanofi, including those listed under “Risk Factors” and “Cautionary Statement Regarding Forward-Looking Statements” in Sanofi’s annual report on Form 20-F for the year ended December 31, 2010. Other than as required by applicable law, Sanofi does not undertake any obligation to update or revise any forward-looking information or statements.

For Genzyme:
Lori Gorski, 617-768-9344

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