FDA Names ABO-202, Potential Gene Therapy for Infantile Batten Disease, an Orphan Drug

A potential gene therapy to treat infantile Batten disease, ABO-202 by Abeona Therapeutics, has been designated an orphan drug by the U.S. Food and Drug Administration (FDA) to help advance its development in clinical testing.

Also known as infantile neuronal ceroid lipofuscinosis (INCL), infantile Batten disease is a rare lysosomal storage disease of the nervous system that is caused by autosomal-recessive mutations in the CLN1 gene. It primarily affects the nervous system in newborns, and progresses rapidly. (Autosomal-recessive disease results from two mutated genes, one inherited from the father and one from the mother.)

ABO-202 is an adeno-associated, virus (AAV)-based gene therapy that has reportedly shown promising preclinical efficacy in animal models of infantile Batten disease by extending survival and improving muscle function when administered early in the disease course.

“This designation builds on our clinical portfolio of AAV gene therapies that have received FDA and EMA (European Medicines Agency) orphan drug designations, which is an important validation of the scientific and clinical translation of these products for the severely underserved CLN1 patient population,” Timothy J. Miller, PhD, president and chief executive officer of Abeona, said in a press release.

The company presented key preclinical data during the WORLDSymposium that took place Feb. 5-9 in San Diego, California,  including evidence that CLN1 mice models can mimic the major features of the human disease manifestations. A single intrathecal injection (given through the spinal canal so as to reach the central nervous system) of self-complementary AAV9 encoding a healthy human CLN1 gene in presymptomatic CLN1 mice significantly increased their survival, improved behavior, and reduced motor deficits.

Response to treatment improved with higher doses, the company also reported, suggesting that increased central nervous system exposure might be beneficial. A combination approach using both intravenous and intrathecal routes for ABO-202 delivery, further increased survival by 50 percent, suggesting the treatment might be of benefit in symptomatic animal models.

Clinical testing of ABO-202 may start later this year, the company said. The gene therapy was developed in conjunction with Steven Gray at the University of North Carolina at Chapel Hill, and had the support of The Saoirse Foundation, Taylor’s Tale, Garrett the Grand — Batten Fighter, Hayden’s Batten Disease Foundation, and the Batten Disease Support and Research Association.

“The ABO-202 preclinical data from Dr. Steven Gray’s lab support the clinical translation for patients with infantile Batten disease, and provide valuable insight for potentially improving efficacy using a combination of delivery routes for CNS and whole-body benefit to remove the underlying pathology associated with the disease,” Miller said.

The company is also developing ABO-201, a gene therapy for children with juvenile Batten disease, caused by mutations in the CLN3 gene. Symptoms of juvenile Batten include intellectual and developmental deficits, seizures, and progressive vision loss, and typically become evident between ages 4 and 8. The FDA designated ABO-201 an orphan drug in June 2017 as a potential juvenile Batten disease treatment.

Orphan drug status grants therapies or biological products targeting rare diseases (or conditions affecting fewer than 200,000 people in the U.S.) market exclusivity upon approval for up to seven years, tax credits to cover the costs of qualified clinical testing, and other benefits.