The Challenge of Rare and Orphan Diseases

In the US an orphan disease affects less than 200,000 individuals.  The European Union defines orphan diseases as less than 1 patient for every 10,000 individuals. Despite the varied definitions, the fact remains that rare and orphan diseases have historically been overlooked in spite of the unmet need and toll these conditions often exert on human health and happiness. Aceragen seeks to alter that balance.

Aceragen’s Approach to Rare Diseases

Whether through acquisition or through in-house R&D, Aceragen aims to target specific rare diseases for novel therapeutic development. The choice of the diseases is uniquely dependent on the nexus of our team's expertise and insight, lack of adequate current therapy, and the impact of the disease on patients, families and communities. Acid ceramidase deficiency presenting as Farber disease represents the first example of our approach in action. The disease can result in a great deal of suffering for patients and families, and there is no disease-specific therapy available. The disease process underlying the symptoms of Farber disease is an excellent target for enzyme therapy, and the development of such a therapy is particularly suited to the strengths of our team. A unique aspect of the opportunity for ACG-801 is that, in addition to Farber disease, there are other rare diseases for which acid ceramidase deficiency has been clearly demonstrated to play a role, and the enzyme therapy modality is ideally suited for adaptability to different doses, routes or means of delivery. These two factors make the potential scope of the ACG-801 program wholly different than other similar therapies on the market or in development. Among the other potential rare disease targets are spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a neurological disorder, and cystic fibrosis, a rare genetic disease affecting the lung and other organs. In addition to ACG-801, Aceragen is actively reviewing opportunities to expand our product portfolio in rare and/or genetic disorders. Please contact us if you have a program that you would like us to review for partnering at All materials submitted will be treated as non-confidential.

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