FDA grants orphan drug designation to gene therapy for Batten disease

The FDA has granted orphan drug designation to an adeno-associated virus-based gene therapy for treating infantile Batten disease, according to a press release from Abeona Therapeutics.

Batten disease, an extremely rare and fatal autosomal recessive neurodegenerative disorder, can be caused by autosomal recessive mutations in ceroid lipofuscinosis type 1 (CLN1) gene. It primarily affects the nervous system, with initial symptoms including language delays, epilepsy and ataxia, as well as later symptoms of myoclonus and vision loss. In the late infantile form of the disease, signs and symptoms typically manifest between ages 2 and 4 years.

Children who inherit this condition often require the use of a wheelchair by late childhood and typically do not survive beyond their teenage years. Despite its severity, Batten disease is relatively rare, affecting fewer than one in 1 million U.S. residents, many of whom remain undiagnosed.

“This designation builds on our clinical portfolio of [adeno-associated virus (AAV)] gene therapies that have received FDA and [European Medicines Agency] orphan drug designation, which is an important validation of the scientific and clinical translation of these products for the severely underserved CLNI patient population,” Timothy J. Miller, PhD, president and CEO of Abeona Therapeutics, said in the release.

Abeona’s ABO-202 was developed with Stephen J. Gray, PhD, assistant professor, Pediatrics and Neurology, UT Southwestern, with clinical trials expected to begin in 2018, according to the release.

“ABO-202 is an AAV gene therapy that has shown promising preclinical efficacy in the [infantile neuronal ceroid lipofuscinosis] animal model of disease by expanding survival and improving muscle function when administered early in the disease course,” Gray said in the release.

Preclinical data presented at the WORLDSymposium in San Diego included key findings from a study in mice that demonstrated that a single intrathecal injection of self-complementary AAV 9 encoding the human CLN1 gene to presymptomatic CLN1 mice at 1 week and 1 month “significantly increased their survival, improved behavior and reduced motor deficits.”

The study also found that a combination delivery of ABO-202 by both intravenous and intrathecal routes of administration increased survival efficacy by 50% and improved potential treatment for older animals, which had advanced disease manifestations, according to the release.

The FDA’s Office of Orphan Products Development assigns orphan drug designation to novel drugs and biologics that are intended for safe and effective treatment, diagnosis or prevention of rare diseases or disorders that affect less than 200,000 people nationwide.