Phase 1/2 study to evaluate safety and efficacy of BMN 190 in patients with CLN2

Phase 1

• Conditions: euronal Ceroid Lipofuscinosis Type 2 (CLN2).; MedDRA version: 16.1Level: LLTClassification code 10052074Term: Neuronal ceroid lipofuscinosis NOSSystem Organ Class: 100000004850; Therapeutic area: Diseases [C] - Nervous System Diseases [C10]

• Registration Number: EUCTR2012-005430-11-IT
• Lead Sponsor: BioMarin Pharmaceutical Inc.

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2014-01-20
• Last Update Posted: 19 February 2018

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 22

Inclusion Criteria

• Has a diagnosis of CLN2 determined by TPP1 enzyme activity (dried blood spot) available at study entry. If no genotype information is available, blood will be collected for CLN2 gene analysis at baseline. In addition, blood for TPP1 enzyme activity (dried blood spot) will be collected at baseline to be analyzed centrally
• Has mild to moderate disease documented by a two-domain score of 3-6 on motor/gait and language domains of the Hamburg Scale, with a score of at least 1 in each of these two domains
• Written informed consent from parent or legal guardian and assent from subject, if appropriate
• Has the ability to comply with protocol requirements, in the opinion of the investigator
• Seizures are stable in the judgment of the investigator
Are the trial subjects under 18? yes
Number of subjects for this age range: 22
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

• Is less than 3 years old at enrollment
• Has another inherited neurologic disease, e.g. other forms of CLN or seizures unrelated to CLN2 (patients with febrile seizures may be eligible)
• Has another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, hemorrhage) before study entry
• Requires ventilation support, except for noninvasive support at night
• Has received stem cell, gene therapy, or ERT for CLN2
• Has contraindications for neurosurgery (e.g., congenital heart disease, severe respiratory impairment, or clotting abnormalities)
• Has contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain)
• Has generalized motor status epilepticus within 4 weeks before the First Dose visit, taking care that status epilepticus is on clinical examination and not only electroencephalogram (EEG) (enrollment may be postponed)
• Has severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks before the First Dose visit (enrollment may be postponed)
• Is prone to complications from intraventricular drug administration, including patients with hydrocephalus or ventricular shunts
• Has known hypersensitivity to any of the components of BMN 190
• Has received any investigational medication within 30 days before the first infusion of study drug or is scheduled to receive any investigational drug other than BMN 190 during the course of the study
• Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject’s ability to comply with the protocol requirements or compromise the subject’s well being, safety, or clinical interpretability

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified