BioMarin Pharmaceutical Inc. has dosed the first patient in the phase I/II trial for BMN 190, a recombinant human tripeptidyl peptidase 1 (rhTPP1) for the treatment of patients with neuronal ceroid lipofuscinosis type 2 (NCL-2), a form of Batten disease. This is the first time that a patient with Batten disease has been treated with an enzyme replacement therapy in a clinical trial setting.

"This programme is representative of the company's core competency of developing life-altering enzyme replacement therapies for serious unmet medical needs," said Hank Fuchs, MD, executive vice president and chief medical officer of BioMarin. "We are inspired and motivated by the patient and physician community and encouraged by the pharmacological activity demonstrated in preclinical models. We hope to leverage our expertise in enzyme replacement therapy development to deliver a viable treatment option to patients with this form of Batten Disease."

"The completion of dosing of the first patient in the trial of BMN190 marks the beginning of an important journey. This neurodegenerative disease of childhood is devastating for patients and families. While we hope to make a large difference in their outcome, we are moved and grateful for the support of affected families worldwide," said Angela Schulz, MD Ph.D., Children's Hospital, University Medical Centre Hamburg-Eppendorf. "Clinical trials are the only means to ascertain whether the promise of this new therapeutic approach will be fulfilled. Without the families' selfless dedication to the important principles of science, this would not be possible."

"We are encouraged by this important milestone, and support the clinical trial process as the best way to bring much needed therapies to underserved patient populations," said Tracy VanHoutan, founder of the Noah's Hope Batten Disease research fund, and second vice president of the Batten Disease Support and Research Association, the largest organization in the world dedicated to family support and medical research in Batten Disease.

The phase I/II study is an open-label, dose-escalation study in patients with NCL-2. The primary objectives are to evaluate the safety and tolerability of BMN 190 and to evaluate effectiveness using an NCL-2-specific rating scale score in comparison with natural history data after 48 weeks of treatment. Secondary objectives are to evaluate the impact of treatment on brain atrophy in comparison with NCL-2 natural history after 48 weeks of treatment and to characterize pharmacokinetics and immunogenicity. The study will enroll approximately 22 subjects at up to ten clinical sites for a treatment duration of 48 weeks.

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions.