Treating Cornelia de Lange Syndrome

SLU ID 11-027 | Use of Indomethacin-based Drugs to Treat Cornelia de Lange Syndrome

Background

Cornelia de Lange Syndrome (CdLS) is a devastating genetic syndrome that occurs approximately once per 10,000 births. Those who suffer from the disease display slow growth, physical deformities in limbs, heart and kidney, mental retardation, speech deficits and autism. It is rarely inherited and usually caused by sporadic dominant mutations. CdLS is associated with poor growth and diverse physical deformities and mental deficits. CdLS displays many features commonly seen in isolation in sporadic birth defects, and thus treatments developed for CdLS may also be beneficial for developmental disorders of unknown etiology. CdLS birth defects include clinically diagnostic facial features, upper limb deformities, as well as gut, heart, and kidney abnormalities. Other deficits include mental disability (average IQ in the 50s), speech difficulties, and autism. Individuals suffering from CdLS often require fulltime care for their entire lives. As such, CdLS has a significant lifestyle and financial impact on families. Currently, there are no therapies for CdLS that address the genetic root cause of the syndrome. Moreover, there are no acceptable treatments for most symptoms of CdLS.

Overview

Researchers at Saint Louis University have developed methods for using Indomethacin or Acemetacin to treat individuals with Cornelia de Lange Syndrome (CdLS) as well as methods for screening potential therapeutic agents for treating CdLS.

Benefits

The potential benefits of this technology include:

• Increasing the number of CdLS therapies

• Increasing the number of CdLS therapies that address the genetic root cause of the syndrome

• Increasing the effectiveness of CdLS therapies

Applications

This technology has several potential applications including:

• Treating Cornelia de Lange Syndrome (CdLS)

• Treating developmental disorders of unknown etiology

Opportunity

Saint Louis University is seeking a partner to further develop and commercialize this technology.

Patents

• U.S. patent 9,138,424