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Abeona Therapeutics’ ABO-201 program has been designated as an orphan drug by the United States Food and Drug Administration (FDA) as a potential gene therapy treatment for juvenile Batten disease. A clinical study of the therapy in patients is currently being planned.

ABO-201 therapy uses a virus to deliver a normal copy of the CLN3 gene encoding battenin, the defective protein responsible for the development of juvenile Batten disease.

“The published ABO-201 preclinical data… supports clinical translation for patients with juvenile Batten disease, and demonstrated the importance of selecting the right vector and route of administration for potential patients. [central nervous system] benefit and eliminate the underlying pathology associated with the disease,” said Timothy J. Miller, President and CEO of Abeona Therapeutics, in a press release. “This designation helps move the ABO-201 program forward and we look forward to initiating human clinical trials later this year.”

Miller referenced a recent study that showed ABO-201 improved nerve inflammation and movement in mice with juvenile Batten disease. These results, published in the Journal of Neuroscience under the title “Administration of the self-complementary AAV9 gene partially corrects the pathology associated with juvenile neuronal ceroid lipofuscinosis (CLN3)support the design of a clinical trial evaluating the effects of ABO-201 in human patients.

Mutations in CLN3 gene that leads to a lack of battenin results in the abnormal accumulation of a type of fat molecule, called liposfuscin. This, in turn, leads to neuronal loss, although the exact mechanisms of this process are still unknown.

Symptoms of juvenile Batten disease usually appear in children between the ages of 4 and 8 and include developmental regression, intellectual deficits, seizures, and loss of vision, which can progress rapidly and lead to blindness. These children also lose their ability to speak in complete sentences and have difficulty with basic movements, such as walking or sitting. As the disease progresses, they may also develop cardiac and behavioral abnormalities.

Diagnosis is usually made by looking for CLN3 mutations using blood samples. Sometimes a skin biopsy may be necessary.