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 those affecting less than 1 patient for every 10,000 individuals. Regardless of the varied definitions, the fact remains that rare and orphan diseases have historically been overlooked despite the toll these conditions exert on human health and happiness. Aceragen seeks to alter that balance.

Aceragen’s Approach to Rare Diseases

Aceragen targets specific rare diseases for novel therapeutic development. Disease targets are dependent on multiple factors, including our team’s expertise and insight, the lack of adequate treatments, and the ongoing 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 is an excellent target for enzyme replacement therapy, and the development of such a therapy is well-suited to the strengths of our team. Consequently, Aceragen is developing recombinant human acid ceramidase (ACG-801) as an investigational therapy for Farber disease.

Whether through acquisition or in-house R&D, Aceragen development programs are built to bring value to all stakeholders. 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 businessdevelopment@aceragen.com. All materials submitted will be treated as non-confidential.

Resources

National Organization for Rare Diseases (NORD)

NIH Genetic and Rare Disease Information Center (GARD)

Medline Plus (Genetics Home Reference)

Centers for Disease Control and Prevention (CDC)

Cystic Fibrosis Foundation