NOVATO, Calif., May 1, 2012 /PRNewswire/ Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced results from a first-in-human, multi-center, Phase 1 study of UX001 in patients with hereditary inclusion body myopathy (HIBM) showing that UX001 was well-tolerated with an expected extended release profile on absorption after oral administration. UX001 is an extended release formulation of sialic acid intended as a substrate replacement therapy for HIBM, a severe, neuromuscular disease caused by sialic acid deficiency. Based on the Phase 1 results, Ultragenyx plans to initiate an international, multi-center, randomized, double-blind, placebo-controlled, parallel group Phase 2 study of UX001 in HIBM patients in the second quarter of this year.

The Phase 1 clinical trial was a multi-center, sequential dose-escalation study designed to characterize the safety, tolerability and pharmacokinetics of UX001 Sialic Acid-Extended Release (SA-ER) tablets in patients with HIBM disease. Twenty-six subjects received SA-ER tablets orally at one of five (5) dose levels in the single-dose phase and one of four (4) dose levels in the repeat-dose phase. Preliminary data showed that SA-ER was well-tolerated at the doses evaluated, with no serious adverse events reported. The adverse event profile was unremarkable and showed no pattern or dose dependent relationship. Pharmacokinetic analysis from the study showed that single doses of SA-ER are absorbed and provide significant drug levels over a 12-16 hour period. On repeated 3 times per day dosing, serum free sialic acid concentrations reached relatively steady levels over a 24 hour cycle.

"We are encouraged by the results of this early stage clinical trial which suggest SA-ER in single and repeated oral dosing is well-tolerated and has the potential to be a treatment for patients suffering from HIBM," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "Based on these favorable Phase 1 results, we look forward to moving quickly to initiate a Phase 2 study of UX001."

Ultragenyx plans to present the Phase 1 data at the 17th Annual International World Muscle Society Congress in Perth, Australia later this year.

About HIBM

HIBM is also known as GNE myopathy, distal myopathy with rimmed vacuoles (DMRV) and Nonaka disease. HIBM is a severe, adult-onset, progressive, genetic neuromuscular disease caused by a deficiency of an enzyme in the first step of sialic acid biosynthesis needed for the modification of proteins and fats. Patients with HIBM typically begin to have weakness and abnormal walking at 18 to 30 years of age. Over the ensuing 10 to 20 years, many patients progressively lose significant functional ability and become wheelchair-bound. There are no current treatments for this disease.

About Ultragenyx

Ultragenyx is a privately held, developmental stage biotechnology company committed to bringing life-enhancing therapeutics for patients with rare and ultra-rare genetic diseases, also known as orphan and ultra-orphan diseases, to market. The company focuses on rare metabolic diseases that affect small numbers of patients, but for which the unmet medical need is high and there are no effective treatments. Ultragenyx intends to build a sustainable pipeline of safe and effective therapies to address these underserved diseases. Ultragenyx' lead program, UX001, is being evaluated as a potential treatment for hereditary inclusion body myopathy (HIBM), also known as GNE myopathy.

The company is led by an experienced management team in rare disease therapeutics. Ultragenyx is striving toward an improved model for successful rare disease drug development which has the potential to increase efficiency while maintaining appropriate safety and efficacy standards. The company believes that it can deliver significant value to patients by building a high quality pipeline of rare disease therapeutics and efficiently transforming good science into great medicine.

For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.

NOVATO, Calif., April 23, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that it has moved its corporate headquarters to a larger facility in the Bel Marin Keys area of Novato, CA.  The relocation will accommodate current and future growth of Ultragenyx' staff and expand operations in the areas of clinical development, regulatory affairs, technical operations, and administration.  The company will continue to lease laboratory facilities at the Buck Institute in Novato which currently houses the company's research staff.

"Our move to our new corporate headquarters will enable us to support the advancement of our pipeline of treatments for rare and ultra-rare diseases and grow our team as needed," said Emil Kakkis, MD, PhD, Chief Executive Officer, who founded Ultragenyx in 2010.  "We want to express our appreciation to the elected officials and city of Novato for their support of Ultragenyx, and we look forward to continuing to be an integral part of the Novato community."

Ultragenyx will celebrate the relocation of its corporate headquarters by holding a ribbon-cutting ceremony on Friday, April 27, 2012, at 3:30pm at its new location. 

The address of the new corporate headquarters is 60 Leveroni Court, Novato, CA 94949, and the new corporate phone number is 415-483-8800.

WASHINGTON(BUSINESS WIRE) Thought leaders from dozens of biotech and pharmaceutical corporations from across the globe will gather June 19 20 to discuss innovations and regulations pertaining to Orphan Diseases, at the 2012 Orphan Disease Forum, as part of the 2012 BIO International Convention in Boston, MA.

The forum is co-organized by Centric Health Resources and the National Organization for Rare Disorders (NORD), and is hosted by the Biotechnology Industry Organization.

We are pleased to partner with NORD and Centric on this two-day forum to raise awareness for rare diseases and to improve the health of patients with debilitating and life-threatening diseases,? said Jim Greenwood, President and CEO of BIO. Thought leaders at the forefront of the international drug marketplace use this forum to advance therapies and cures for impacted patients.?

Industry consultants, biotech, pharmaceutical and venture capital companies and health benefits managers attend this two-day forum, as part of the BIO International Convention, the largest global gathering for the biotechnology industry. The forum and the Convention offer networking and partnering opportunities with policymakers, scientists, CEOs and newsmakers, and hundreds of sessions covering biotech trends, policy issues and technological innovations.

Forum agenda highlights include:

Are We Heading into a Pharmaceutical and Biotechnology Market of Orphan and Narrow Indications?
Industry experts will discuss the changing orphan drug environment. Perhaps the conditions are right for a new strategy: getting early market FDA approval with efficient initial funding, then later broadening the indications.
Tuesday, June 19, 8:30 a.m. 9:45 a.m.
Speakers: Emil D. Kakkis, PhD, President and Chief Executive Officer, Ultragenyx, Inc., Edward Mathers, Partner, New Enterprise Associates, Inc., David Savello, PhD, Senior Vice President, Development Operations, XenoPort, Inc. and Ron Smith, Vice President, Strategic Development, Blue Cross Blue Shield of North Carolina.

The Convention also features the BIO Business Forum, a unique platform for biotechnology and pharmaceutical companies, academic research institutions, and investors from around the world to gather and discuss strategic opportunities. For registration, conference agenda and exhibitor information, visit 2012 BIO International Convention.

For more information: Visit http://www.bio.org

BIO is pleased to recognize the leadership provided by the 2012 Orphan Disease Forum sponsors. The sponsors include: Alnylam Pharmaceuticals, Genzyme, a Sanofi Company and Millennium: The Takeda Oncology Company.

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7. MPS 7 is an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme Beta-glucuronidase, required for the degradation of the glycosaminoglycans dermatan sulfate (DS) and heparan sulfate (HS). UX003 is a recombinant human Beta-glucuronidase intended as an enzyme replacement therapy for the treatment of MPS 7. MPS 7 was originally described in 1973 by William Sly, MD, St. Louis University School of Medicine, and is also known as Sly Syndrome. Ultragenyx in-licensed the MPS 7 program from St. Louis University. su

"Obtaining orphan drug designation for UX003 is a significant achievement for Ultragenyx that adds value to our development pipeline and attests to the importance of this product candidate in filling an unmet medical need," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "We look forward to continuing to collaborate with Dr. Sly and colleagues at St. Louis University to advance this urgently needed therapy into clinical testing."

The Orphan Drug Designation program provides orphan status to drugs and biologics intended for the safe and effective treatment, diagnosis or prevention of rare diseases/disorders that affect fewer than 200,000 people in the U.S. Among the benefits of orphan designation in the US are seven years of market exclusivity following FDA approval, waiver or partial payment of application fees, and tax credits for clinical testing expenses conducted after orphan designation is received (see also Rare Diseases).

NOVATO, Calif., March 8, 2012 /PRNewswire/ -- Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the Phase 1 study of UX001 for hereditary inclusion body myopathy (HIBM) has been completed.  UX001 is an extended release formulation of sialic acid intended as a substrate replacement therapy for HIBM, a severe, neuromuscular disease caused by sialic acid deficiency.  UX001 is the first program from the company's pipeline to enter the clinic since its founding in 2010. The FDA Office of Orphan Products Development has granted orphan drug designation for UX001 for the treatment of HIBM.

"Ultragenyx continues to make excellent progress in advancing and expanding our clinical development pipeline with the completion of our first clinical study," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "We deeply appreciate the participation and enthusiastic support of the HIBM patient community for our Phase 1 study. We anticipate releasing the results from this study within the next couple of months, and will look forward to presenting the data at a scientific meeting in the fall. We plan to initiate a Phase 2 trial of SA-ER in patients with HIBM in the second quarter of this year."

The Phase 1 clinical study evaluated the pharmacokinetics (PK) and safety of UX001 in 28 HIBM patients.  The study tested five different single-dose levels in each group of six subjects.   Subjects then underwent repeat dosing at four dose levels over 7 days to establish the steady-state pharmacokinetics and safety of repeat doses of UX001.  Ultragenyx anticipates data from the Phase 1 study in April 2012.   

About HIBM 

HIBM is also known as GNE myopathy, distal myopathy with rimmed vacuoles (DMRV) and Nonaka disease.  HIBM is a severe, adult-onset, progressive, genetic neuromuscular disease caused by a deficiency of an enzyme in the first step of sialic acid biosynthesis needed for the modification of proteins and fats. Patients with HIBM typically begin to have weakness and abnormal walking at 18 to 30 years of age. Over the ensuing 10 to 20 years, many patients progressively lose significant functional ability and become wheelchair-bound. There are no current treatments for this disease.

About Ultragenyx

Ultragenyx is a privately held, developmental stage biotechnology company committed to bringing life-enhancing therapeutics for patients with rare and ultra-rare genetic diseases, also known as orphan and ultra-orphan diseases, to market.  The company focuses on rare metabolic diseases that affect small numbers of patients, but for which the unmet medical need is high and there are no effective treatments. Ultragenyx intends to build a sustainable pipeline of safe and effective therapies to address these underserved diseases.  Ultragenyx' lead program, UX001, is being evaluated as a potential treatment for hereditary inclusion body myopathy (HIBM), also known as GNE myopathy.

The company is led by an experienced management team in rare disease therapeutics.  Ultragenyx is striving toward an improved model for successful rare disease drug development which has the potential to increase efficiency while maintaining appropriate safety and efficacy standards. The company believes that it can deliver significant value to patients by building a high quality pipeline of rare disease therapeutics and efficiently transforming good science into great medicine.

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7.  MPS 7 is an extremely rare autosomal recessive lysosomal storage disorder characterized by a deficiency of the lysosomal enzyme Beta-glucuronidase, required for the degradation of the glycosaminoglycans dermatan sulfate (DS) and heparan sulfate (HS). 

UX003 is a recombinant human Beta-glucuronidase intended as an enzyme replacement therapy for the treatment of MPS 7.  MPS 7 was originally described in 1973 by William Sly, MD, St. Louis University School of Medicine, and is also known as Sly Syndrome. Ultragenyx in-licensed the MPS 7 program from St. Louis University. 

"Obtaining orphan drug designation for UX003 is a significant achievement for Ultragenyx that adds value to our development pipeline and attests to the importance of this product candidate in filling an unmet medical need," said Emil D. Kakkis, MD, PhD, Chief Executive Officer of Ultragenyx. "We look forward to continuing to collaborate with Dr. Sly and colleagues at St. Louis University to advance this urgently needed therapy into clinical testing." 

Emil Kakkis harvesting academic sources for Orphan drug newco Ultragenyx

By Jennifer Rhodes
Staff Writer
Published on Monday, December 19, 2011

Ultragenyx Pharmaceutical Inc. is taking a traditional approach to Orphan Drugs by in-licensing development-ready substrate and enzyme replacement therapies that have a clear mechanistic rationale and proof of concept in animals for rare and ultra-rare genetic diseases.

Founder, President and CEO Emil Kakkis believes there are a few hundred such diseases with no current treatments.