BioMarin Pharmaceutical Inc. has submitted a Clinical Trial Application (CTA) with the Medicines and Healthcare Products Regulatory Agency (MHRA) in the UK 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. The company expects to start enrolling patients in a phase 1/2 trial in mid-2013.

"The Batten disease program embodies our core mission at BioMarin -- to develop life-altering therapies for ultra-orphan diseases with a significant and serious unmet medical need," said Hank Fuchs, executive vice president and chief medical officer of BioMarin. "We hope to leverage our expertise in enzyme replacement therapy development to advance this program and bring a therapeutic option to patients suffering from NCL-2. We have demonstrated encouraging pharmacological activity in preclinical models and hope to see this benefit translated into human subjects."

The phase 1/2 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. Secondary objectives are to evaluate the impact of treatment on brain atrophy in comparison with NCL-2 natural history, and to characterize the pharmacokinetics and immunogenicity. The study will enroll approximately 22 subjects worldwide for a treatment duration of 48 weeks.

BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. The company's product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates.