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Updated: Jan 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Acceleration of rare disease therapeutic development: a case study of AGIL-AADC
Sonya Das1, Samuel Huang2, Andrew W Lo3
1MIT Laboratory for Financial Engineering, Sloan School of Management, Cambridge, MA, USA; MIT Department of Mathematics, Cambridge, MA, USA; MIT Department of Electrical Engineering and Computer Science, Cambridge, MA, USA.
Abstract:
Rare-disease drug development is both scientifically and commercially challenging. This case study highlights Agilis Biotherapeutics (Agilis), a small private biotechnology company that has developed the most clinically advanced adeno-associated virus (AAV) gene therapy for the brain. In an international collaboration led by Agilis with National Taiwan University (NTU) Hospital and the Therapeutics for Rare and Neglected Diseases (TRND) program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health, Agilis' gene therapy for aromatic l-amino acid decarboxylase deficiency (AADC), AGIL-AADC, was granted biologics license application (BLA)-ready status by the FDA in 2018, only 18 months after being licensed from NTU by Agilis. Here, we highlight the factors that enabled this remarkable pace of successful drug development for an ultra-rare disease.
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