BioMarin enrols first patient in phase 1/2 trial of gene therapy drug for the treatment of haemophilia A

BioMarin Pharmaceutical Inc. announced today that it has enrolled the first patient in a Phase 1/2 trial for BMN 270, an investigational gene therapy for the treatment of patients with haemophilia A. BMN 270 is an AAV-factor VIII vector, designed to restore factor VIII plasma concentrations, essential for blood clotting in patients with haemophilia A. The gene therapy program for Haemophilia A was originally licensed by UCL Business PLC using the research from Professor Amit Nathwani and his team at UCL and St. Jude Children’s Research Hospital in February 2013 and has since been developed at BioMarin’s facilities.

“Haemophilia A results from mutations at the genetic level, making gene therapy a potentially powerful technique to treat patients with a single dose,” stated Hank Fuchs, M.D., Executive Vice President, Chief Medical Officer of BioMarin. “For the first clinical trial of BMN 270, we are looking to demonstrate that treatment with BMN 270 increases the expression of the factor VIII protein, necessary for blood clotting.”

“The global bleeding disorders community greatly benefits from a wide range of support to help advance our vision of Treatment for All,” said Alain Weill, World Federation of Haemophilia (WFH) President. “We welcome BioMarin as a new WFH Corporate Partner and greatly appreciate their commitment to support people with haemophilia A through their innovative gene therapy research.”

Study Design
The Phase 1/2 study will evaluate the safety and efficacy of BMN 270 gene therapy in patients with severe Haemophilia A. The primary end points are to assess the safety of a single intravenous administration of a recombinant AAV, human-coagulation Factor VIII vector and to determine the change from baseline of Factor VIII expression level. The kinetics, duration and magnitude of AAV-mediated Factor VIII activity in individuals with haemophilia A will be determined and correlated to an appropriate BMN 270 dose. Secondary end points include assessing the impact of BMN 270 on the frequency of Factor VIII replacement therapy, the number of bleeding episodes requiring treatment and any potential immune responses.

About Haemophilia A
Haemophilia A, also called factor VIII (FVIII) deficiency or classic haemophilia, is a genetic disorder caused by missing or defective factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene.[1] Approximately 1 in 10,000 people is born with Haemophilia A.[2] People living with the disease are not able to form blood clots efficiently and are at risk for excessive bleeding from modest injuries, potentially endangering their life. People with severe haemophilia often bleed spontaneously into their muscles or joints. The standard of care for the 43 percent of haemophilia A patients in the developed world, who are severely affected, is a prophylactic regimen of Factor VIII infusions three times per week.[3] Even with prophylactic regimens, many patients still experience spontaneous bleeding events that result in progressive and debilitating joint damage..

About Gene Therapy
Gene therapy is a form of treatment designed to fix a genetic problem by adding a corrected copy of the defective gene. The functional gene is inserted into a vector, containing a small DNA sequence, that acts as a delivery mechanism, providing the ability to deliver the functional gene to cells. The cells can then use the information to build the functional proteins that the body needs, potentially reducing or eliminating the cause of the disease. Currently, in the United States, gene therapy is available only as part of a clinical trial.

About BioMarin
BioMarin is a global biotechnology company that develops and commercializes innovative therapies for patients with serious and life-threatening rare and ultra-rare genetic diseases. The company’s portfolio consists of five commercialized products and multiple clinical and pre-clinical product candidates.

For additional information, please visit: www.BMRN.com

About UCLB
UCLB is a leading technology transfer company that supports and commercialises research and innovations arising from UCL, one of the UK’s top research-led universities.

UCLB has a successful track record and a strong reputation for identifying and protecting promising new technologies and innovations from UCL academics. It invests directly in development projects to maximise the potential of the research and manages the commercialisation process of technologies from the laboratory to market.

UCLB supports UCL’s Grand Challenges of increasing UCL’s positive impact on and contribution to Global Health, Sustainable Cities, Intercultural Interaction and Human Wellbeing.

For further information, please visit: www.uclb.com

Forward-Looking Statement
This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc., including, without limitation, statements about the development of BioMarin’s BMN 270 program generally and the timing and results of the planned clinical trial of BMN 270. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others: results and timing of current and planned preclinical studies and clinical trials of BMN 270; the content and timing of decisions by the U.S. Food and Drug Administration, the European Commission and other regulatory authorities; our ability to successfully manufacture the product candidate for the preclinical and clinical trials; and those factors detailed in BioMarin’s filings with the Securities and Exchange Commission, including, without limitation, the factors contained under the caption “Risk Factors” in BioMarin’s 2013 Annual Report on Form 10-K, and the factors contained in BioMarin’s reports on Form 10-Q. Stockholders are urged not to place undue reliance on forward-looking statements, which speak only as of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or alter any forward-looking statement, whether as a result of new information, future events or otherwise.

Vimizim™ is our trademark, and BioMarin^®, Naglazyme^®, Kuvan^®, Firdapse^® are registered trademarks of BioMarin Pharmaceutical Inc.

Aldurazyme^® is a registered trademark of BioMarin/Genzyme LLC.

[1] Source: National Hemophilia Foundation

http://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-A

[2] Source: World Federation of Hemophilia

http://www.wfh.org/en/page.aspx?pid=637#How_common

[3] Source: World Federation of Hemophilia

http://www.wfh.org/en/resources/annual-global-survey

http://www.wfh.org/en/abd/prophylaxis/prophylaxis-administration-and-dosing-schedules