Rare Disease Report

Orphan Drug Designation Granted to Gene Therapy Program for Infantile Batten

FEBRUARY 12, 2018
Mathew Shanley
This morning, Abeona Therapeutics, Inc. announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation to its ABO-202 program (AAV-CLN1) for the treatment of infantile Batten disease.

Preclinical data of the adeno-associated virus (AAV)-based gene therapy were presented last week at the 14th Annual WORLDSymposium. This is the fifth of Abeona’s gene therapies to be granted the designation.

Infantile neuronal ceroid lipofuscinosis (INCL), or infantile Batten disease, is a lysosomal storage disorder that begins to present shortly after birth. It is the result of mutations in the CLN1 gene, which is responsible for encoding the soluble lysosomal enzyme Palmitoyl-Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules that build up in the lysosomes.

The accumulation leads to neuroinflammation, neurodegeneration and high mortality rates. In its classic form, patients between the ages of 6 and 24 months begin to present with severe symptoms, including: rapid speech and motor deterioration, refractory epilepsy, ataxia, myoclonus, and visual failure. By 5 years of age, CLN1 disease patients with the condition are almost entirely unresponsive and no longer communicative.

“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,” Said Timothy J. Miller, Ph.D., President & CEO of Abeona Therapeutics Inc. in a press release. “This designation helps advance the ABO-202 program and we look forward to initiating human clinical trials later this year.”

The preclinical data reported that CLN1 mice recapitulated the major features of the human disease manifestations, and demonstrated that a single intrathecal (IT) injection of self-complementary AAV 9 (scAAV9) encoding the human CLN1 gene to pre-symptomatic CLN1 mice at 1 week and 1 month significantly increased their survival, improved behavior and reduced motor deficits.

Additionally, it was noted that higher IT doses further improved these observations, suggesting that methods increasing central nervous system (CNS) exposure could prove to be beneficial. Some survival and behavioral benefit were provided to symptomatic INCL mice. Survival efficacy was improved by 50% when ABO-202 was administered with a combination approach that delivered it both intravenously and via an intrathecal route.

In addition to ABO-202, Abeona is also developing ABO-201, a gene therapy intended for the treatment of juvenile Batten disease, which was granted orphan drug designation last summer. In the juvenile variation of the condition, children develop normally until between the ages of 4 and 7 years where symptoms typically begin to present.

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