Pharma, Startups

Quartet of advocacy groups seed an Ohio startup’s gene therapy for rare Sanfilippo syndrome

A Cleveland biotech startup focused on a rare genetic disease provides an interesting example of […]

A Cleveland biotech startup focused on a rare genetic disease provides an interesting example of the growth of alternative funding for life science companies.

Abeona Therapeutics’ just-announced $750,000 seed round, which will allow the startup to complete preclinical development of gene therapies for Sanfilippo syndrome, came not from angel or venture capital investors but from research and advocacy groups.

Sanfilippo syndrome is a rare genetic disease characterized by the body’s inability to break down long chains of sugar molecules that then accumulate in a part of cells called lysosomes. That accumulation in cells of the central nervous system causes cognitive decline, impaired motor function and organ damage.

Most children with Sanfilippo are diagnosed between the ages of two and four, Abeona CEO Tim Miller told me during a conversation last month. Because no treatment currently exists for the disease, most die in their teenage years.

So it makes sense that the Children’s Medical Research Foundation Inc., Team Sanfilippo, Stop Sanfilippo (based in Madrid, Spain) and Fondation Sanfilippo (based in Geneva, Switzerland) would rally around the company in its quest for a cure.

Abeona is developing gene therapies that it hopes could reverse the genetic errors that cause the disease. There are four types of Sanfilippo syndrome; Abeona focuses on the two most common, type A and type B.

Miller said the company has seen a single injection of its therapies restore normal cell and organ function and double the life span of animals in preclinical studies. With the seed funding, the stage is set for those candidates to begin clinical trials next year at Nationwide Children’s Hospital in Columbus, where they were discovered.

If it seems like you’ve been hearing more startups, investors and pharmaceutical companies talk about rare-disease drug development lately, it’s not your imagination. A growing collection of knowledge about the human genome coupled with federal incentives and what Miller called an “appreciation that you can form a business model” around drugs for rare diseases has led to a rare-disease pipeline that today includes some 450 medicines and vaccines.

Shire, Lysogene and Synageva, for example, are also in early development of treatments to address Sanfilippo, which is estimated to occur in 1 in every 70,000 births. Unmet medical needs still abound, though, as there are thought to be thousands of genetic diseases.

As an interesting side note, Abeona draws its name from a Roman goddess who was believed to be a guardian of children.

[Image credit: Flickr user Lisa Williams]

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