Peter Lobel, Ph.D., Professor, Center for Advanced Biotechnology and Medicine, and Department of Biochemistry and Molecular Biology, Robert Wood Johnson Medical School.

RESEARCH SPOTLIGHT

Potential Therapy for Batten Disease

Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) or Batten Disease is a devastating and rare autosomal recessive disorder caused by mutations in the CLN2 gene and protein (Tripeptidyl peptidase I, TPP1). Patients become symptomatic between the ages of 2 and 4 and experience cognitive impairment, visual failure, seizures, deteriorating motor development, and death by 8 to 12 years of age.  Symptoms can be managed to a degree using anti-epileptic drugs combined with physical, speech, and occupational therapies but there is currently no effective approved treatment for LINCL.

Drs. Peter Lobel and David Sleat, both faculty members in the Department of Biochemistry and Molecular Biology, have developed a method for treating LINCL by administering TPP1 protein in an amount effective to reduce symptoms (Issued US Patent 8,029,781). This technology was exclusively licensed to BioMarin, a biopharmaceutical company that develops and commercializes treatments for serious diseases. Animal studies show that direct administration of TPP1 to the brain can delay disease progression and neurodegeneration and result in an overall increase in survival.  Based on these results a clinical trial was conducted by BioMarin and preliminary data indicate that treatment stabilizes diseases in affected children.  Enzyme replacement therapy for LINCL is currently under evaluation for approval by the FDA.

For more information on Batten Disease, please visit the NIH National Institute of Neurological Disorders and Stroke site.

Article: Courtesy of UMDNJ Technology Transfer