Biotechnology firm Aro Biotherapeutics has secured the US Food and Drug Administration (FDA) Orphan Drug Designation for its ABX1100 to treat Pompe disease.

ABX1100 is an investigational Centyrin-small interfering ribonucleic acid (siRNA) conjugate and acts on the glycogen synthase 1 (Gys1) gene in the muscle.

​Gys1 is an enzyme that synthesises glycogen in muscle. The inhibition of the enzyme was found to lower glycogen levels and is a new approach to treating Pompe disease.

In a Pompe mouse disease model, ABX1100 was shown to reduce Gys1 mRNA and GYS1 protein, causing a meaningful decline in glycogen levels in the skeletal muscle.

The firm plans to advance ABX1100 into clinical trials in mid-2023.

Aro Biotherapeutics chief medical officer Mittie Doyle said: “We are pleased to have received this designation and are gratified by the FDA’s recognition of the potential of ABX1100 to improve the lives of patients living with Pompe disease.

“We believe our novel treatment approach has the opportunity to address the great unmet need that exists in Pompe disease, and we are excited to advance ABX1100 to clinical trials in the coming year.”

Pompe disease is a rare, genetic ailment that causes debilitating weakness of muscles which progresses over time.

It is caused by a mutation in the acid alpha-glucosidase (GAA) enzyme that disintegrates glycogen in the muscle.

As a result of the mutation, Pompe disease patients have increased glycogen levels that lead to the progression of the ailment.

Currently, patients receive enzyme replacement therapy (ERT) with recombinant GAA given intravenously.

Aro Biotherapeutics is engaged in developing tissue-targeted genetic treatments.