More than 7,000 rare diseases have been identified, many with high mortality rates and considerable quality of life-burdens. The low patient number in rare diseases make it difficult for pharmaceutical companies to recoup research and development costs, and consequently these medicines are generally expensive on a per patient basis. The high development costs and risks associated with developing orphan drugs sadly means that many companies choose not to pursue potential therapies.
The introduction of the Orphan Drug Act (ODA), with various development incentives, has had a huge impact on the development of new treatments for rare diseases. More than 3,200 investigational drugs have received orphan designation, and approximately 500 new orphan drugs have been approved. However, 95% of the identified rare diseases still have no approved therapy available, and developing new treatments for patients with unmet medical need is of high priority.
The Cambridge, MA-based startup Acer Therapeutics is developing repurposed and reformulated medicines for the treatment of ultra-orphan diseases with significant unmet medical needs. Their current pipeline consists of two late-stage clinical products. ACER-001, a repurposed and reformulated sodium phenylbutyrate (NaPBA), is for a devastating genetic disease called Maple Syrup Urine Disease (MSUD). The disease is caused by an inborn error of amino acid metabolism, and the approximately 3,000 patients worldwide currently have no treatment options. The startup has clinical proof-of-concept data, and is planning to initiate pivotal clinical studies, with possible launch in mid-2018.
Their lead candidate, ACER-002, is a treatment for vascular Ehlers-Danlos Syndrome, the most severe of a group of hereditary connective tissue disorders. The average mortality is 51 years of age, and recent literature suggest a prevalence of about 5,000 patients. ACER-002 is repurposed celiprolol, a unique beta-blocker. The startup has clinical proof-of-concept data demonstrating significant improvement in survival compared to placebo, and if successful, they hope to launch the new treatment in the US in mid-2017.
Acer Therapeutics has a unique opportunity to give new hope to patients around the world with significant unmet medical need. While these ultra-orphan diseases only affect a few thousand people worldwide, they have high mortality rates and a huge impact on quality of life. This not only highlight the huge potential and importance of the work performed by the startup, but also the importance of repurposing drugs to develop new therapies for rare diseases with no currently approved treatments.
The startup recently announced they had closed a Series B round with $8.15 million in new investment led by TVM Life Science Venture. The financing will primarily be used to prepare a new drug application (NDA) for the lead candidate, ACER-002, and support manufacturing and clinical development of ACER-001.