Enobia Pharma Inc. announced that it has successfully completed enrollment in its phase II study of ENB-0040, a bone targeted enzyme replacement therapy being investigated in adolescents and adults with hypophosphatasia (HPP), a serious, rare metabolic bone disorder. Upon anticipated completion of the study later this year, Enobia will have collected safety and efficacy data for ENB-0040 in HPP patients of all ages. If approved, ENB-0040 would represent the first available therapy for patients with HPP.

In advance of next week’s Rare Disease Day, Michael Whyte, MD, Professor of Medicine, Paediatrics and Genetics, and Medical-Scientific Director, Centre for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, and principal investigator for the ENB-0040 studies, will provide an update on this potential advance for patients with HPP at the Sanford-Burnham Medical Research Institute’s second annual Rare Disease Symposium being held in San Diego, CA this Friday, February 25. The event will highlight ENB-0040 and several other new approaches to treating rare diseases, and will bring together scientists, patients, parents and disease advocates to discuss how they can work together to find cures for rare diseases.

Deborah Sittig, who founded Soft Bones: The US Hypophosphatasia Foundation after her son was diagnosed with HPP, will participate in the event.

“We are delighted with the steady progress of our development programme for ENB-0040, and remain committed to our ultimate goal of delivering a safe and effective therapy to address the significant unmet clinical needs of patients suffering with HPP,” said Robert Heft, PhD, president and CEO of Enobia. “All of Enobia is privileged to contribute to the development of treatments for rare metabolic bone disorders. We take this opportunity on Rare Disease Day to highlight the need for sustained research to ensure that rare diseases, and the patients and their families impacted by them, receive the attention and therapies they deserve.”

The fourth International Rare Disease Day coordinated by European Organization for Rare Diseases (EURORDIS) and organized with rare disease national alliances in 25 countries around the world, including the National Organization for Rare Diseases (NORD) in the US Rare Disease Day aims to raise awareness of the approximately 6,000 – 8,000 known rare diseases, or those diseases which affect fewer than 200,000 people. It is estimated that 30 million Americans are affected by a rare disease, with millions more impacted around the world. For most rare diseases, there are limited to no treatment options available.

There are currently no therapies approved for HPP, a rare genetic disease characterized primarily by defective bone mineralization caused by a deficiency in the enzyme Tissue Non-Specific Alkaline Phosphatase (TNSALP). ENB-0040 (asfotase alfa), an investigational treatment for HPP, is a subcutaneous enzyme replacement therapy of TNSALP fused to a bone targeting peptide.

ENB-0040 is designed to directly target TNSALP to the bone in order to correct the enzyme deficiency, which could lead to restoration of normal bone mineralization. ENB-0040, awarded orphan designation in the US and EU in 2008 and Fast Track status in 2009, is currently in Phase 2b clinical development.

In January, Enobia announced that its phase II study of ENB-0040 in juveniles with HPP met its primary endpoint, demonstrating a statistically significant improvement in rickets when compared with historical matched cohort controls (p=0.002). Those results build on the successful completion of an earlier trial in infants, in which participants continue to demonstrate functional and respiratory improvements in longer-term follow-up.

The phase II randomized, open-label, multi-centre, multinational, dose-ranging, concurrent control study will evaluate the safety and efficacy of ENB-0040 in adolescents and adults with HPP. The study is expected to be completed in the second half of this year.

Enobia Pharma Inc. is a private Montreal-based company focused on the development of therapeutics to treat serious bone disorders for which there are no drug therapies currently approved.