ABO-202 is an investigative, one-time gene therapy for a type of Batten disease called CLN1, or rare infantile neuronal ceroid lipofuscinosis.

ABO-202 is produced by Abeona Therapeutics and is currently in pre-clinical stages of development. In 2018, it was granted orphan drug status and rare pediatric disease designation by the U.S. Food and Drug Administration. The European Medicine Agency has also granted the therapy candidate orphan drug designation in 2018.

Clinical trials for ABO-202 are expected to begin in 2018.

About Batten disease

CLN1 is a type of Batten disease caused by a mutation in the PPT1 gene (also called the CLN1 gene). Genes provide instructions for making proteins in cells. When a gene is mutated, the proteins may be made incorrectly, or may be absent altogether.

The PPT1 gene contains instructions for making the enzyme palmitoyl-protein thioesterase 1, which is essential for the function of lysosomes. Lysosomes are the “trash compactors” of the cell, clearing waste and recycling the components. When the PPT1 enzyme is not present, waste products known as lipofuscins accumulate inside cells, causing damage and cell death.

Although this buildup occurs in many cell types, the neurons are the most affected in Batten disease. Symptoms of the disease are, therefore, those caused mainly by the death of nerve cells, such as loss of vision, seizures, loss of motor control, and dementia.

How ABO-202 works

ABO-202 is a gene therapy. In this type of treatment, patients are injected with a modified virus called an adeno-associated virus (AAV) carrying a healthy copy of the PPT1 gene. The virus carries the gene into the patient’s cells and inserts it into the patient’s genome.

Once the gene has been delivered, the virus is “dead” — unable to infect any further cells or create new viruses. Because the virus cannot reproduce, it cannot spread from person to person, so there is no risk of treated patients “infecting” others with the treatment.

The healthy gene produces proteins normally — a single copy of the healthy gene is enough to allow the cell to produce enough PPT1 enzyme to keep the cell healthy.

ABO-202 can be delivered either as an injection into the bloodstream, an injection into the fluid surrounding the spinal cord (intrathecal injection), or both.

ABO-202 research

Preclinical studies have produced promising results where a single dose of ABO-202 significantly increased survival in mouse models of Batten disease, as well as improving behavior and reducing motor control. Experiments in mice in the advanced stages of the disease also showed improvements in survival and symptoms.

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