Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Phase II Study of an Oral Therapy for Gaucher Disease Yields Positive Results

04.05.2010
Gaucher disease, a rare enzyme deficiency disorder, is one of many conditions with few approved treatment options for patients. In a study published online today in Blood, the journal of the American Society of Hematology, researchers present positive results of a Phase II clinical trial of eliglustat tartrate, an oral therapy in development to treat Gaucher disease.

Gaucher disease is a genetic disorder affecting an estimated 1 in 50,000 to 1 in 100,000 people in the U.S. population. Gaucher disease occurs when a mutation of the glucocerebrosidase gene causes low activity of that enzyme in the body.

As a result, harmful fatty substances accumulate in the liver, spleen, bones, and bone marrow, preventing cells and organs from working properly. The primary treatment option is enzyme replacement therapy, which is given intravenously, to break down the accumulated fatty substances.

Eliglustat tartrate is an oral drug currently in development for Gaucher disease type 1 (GD1). As a substrate reduction therapy, the drug decreases the body’s production of the fatty substances so they do not accumulate in cells. Based on Phase I trials in healthy volunteers that demonstrated positive initial safety results, the research team initiated a multinational, open-label, single-arm Phase II study of 26 GD1 patients to evaluate the efficacy, safety, and pharmacokinetics (how the body absorbs and processes the drug) of eliglustat tartrate administered orally at 50mg or 100mg doses twice daily. Eligible patients had confirmed Gaucher disease, characterized as enzyme deficiency and a spleen volume at least 10 times greater than normal, plus abnormal values of either platelet count or hemoglobin levels.

“As with many other rare conditions, we strive to develop new options with improved efficacy and safety for our patients, but we also look for options that may be easier on the provider and the patient.In this case, we were hoping an oral alternative would be viable,” said lead study author Elena Lukina, MD, of the Hematology Research Center at the Russian Academy of Medical Sciences in Moscow, Russia.

The study endpoint (improvement in at least two of the three main efficacy parameters: spleen volume, hemoglobin level, and platelet count) was met by three-fourths (77%) of all patients and nearly all (91%) of the 22 patients who completed the full 52 weeks, with the greatest overall improvements seen in hemoglobin level and spleen volume. The research team found statistically significant improvements across many disease symptoms, including mean hemoglobin level, platelet count, spleen volume, liver volume, and lumbar spine bone mineral density. Furthermore, the patients’ glucosylceramide plasma levels normalized. Disease symptoms seemed to respond rapidly, and improvement was seen especially in bone mineral density. This may have resulted from the drug's small molecular size, which allows it to diffuse quickly within affected cells.

“Eliglustat tartrate provides promise for a safe, effective, and convenient oral therapy for patients with Gaucher disease type 1,” said Dr. Lukina.

Further clinical development of eliglustat tartrate is already proceeding with larger, controlled Phase III studies in untreated patients and in patients previously stabilized with imiglucerase – an intravenously administered medication currently used to treat Gaucher disease.

Reporters who wish to receive a copy of the study or arrange an interview with Dr. Lukina may contact Patrick Irelan at 202-776-0544 or pirelan@hematology.org.

The American Society of Hematology (www.hematology.org) is the world’s largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems, by promoting research, clinical care, education, training, and advocacy in hematology. ASH provides Blood: The Vital Connection (www.bloodthevitalconnection.org), a credible online resource addressing bleeding and clotting disorders, anemia, and cancer. The official journal of ASH is Blood (www.bloodjournal.org), the most cited peer-reviewed publication in the field, which is available weekly in print and online.

Wendy Stokes | EurekAlert!
Further information:
http://www.hematology.org

Further reports about: Disease GD1 Gaucher blood flow bone marrow bone mineral bone mineral density oral

More articles from Health and Medicine:

nachricht Laser activated gold pyramids could deliver drugs, DNA into cells without harm
24.03.2017 | Harvard John A. Paulson School of Engineering and Applied Sciences

nachricht What does congenital Zika syndrome look like?
24.03.2017 | University of California - San Diego

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Argon is not the 'dope' for metallic hydrogen

24.03.2017 | Materials Sciences

Astronomers find unexpected, dust-obscured star formation in distant galaxy

24.03.2017 | Physics and Astronomy

Gravitational wave kicks monster black hole out of galactic core

24.03.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>