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Rare Diseases: Business Developments (08.04.13)

August 4, 2013

I – Sanfilippo Syndrome

Taconic, a Hudson, New York provider of genetically engineered mouse and rat models and other services, announces on July 29, 2013, that the company has begun a custom model generation project for the Jonah’s Just Begun Foundation. Jonah’s Just Begun is a Foundation mission is to find a cure for the rare disease, Sanfilippo Syndrome. The Foundation’s project won the Taconic-sponsored Platinum Award of a Custom Mouse Model from among 77 applicants in its category. According to Todd Little, Taconic’s President and CEO:

“Most rare diseases have a genetic component, and studying the effects of genomic alterations in vivo is a critical first …. By generating a custom knockout model for Jonah’s Just Begun, Taconic is supporting Sanfilippo Syndrome research with an essential tool to improve understanding of the disease’s mechanism, an indispensable precursor to therapy development.”

Sanfilippo Syndrome is a genetic metabolism disorder that prohibits the proper breakdown of the body’s sugar molecules, one of a group of diseases called Mucopolysaccharidoses (MPS). The disease first affects the central nervous system, causing severe brain damage, and typically results in hearing loss, vision loss, organ damage, and bone deformities.

II – X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Edimer Pharmaceuticals, a biotechnology company in Cambridge, Massachusetts, announces July 30, 2013, that it has secured $18 million in Series B financing from new and existing investors. The company, founded in 2009,  focuses on therapeutics for rare genetic disorders. The investment follows a $22 million Series A round. The new funding will be used to further the clinical development of ED1200 for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED). ED1200 has FDA Orphan Drug Designation (ODD) and Fast Track status in the US, and ODD in Europe.

XLHED , also known as Christ-Siemens-Touraine Syndrome, is an ultra-rare genetic disease that causes symptoms including poor temperature control, respiratory issues, lack of sweat glands, and other problems. Patients affected by XLHED are at risk for life-threatening hyperthermia based on their inability to regulate body temperature, and for clinically significant pneumonias resulting from their abnormality in respiratory secretions.

III – Niemann-Pick Type B

Gallus Biopharmaceuticals, a St. Louis-based company that provides contract services for biopharmaceutical companies for process development and clinical and commercial manufacturing, announces on July 31, 2013, that it has an agreement with Genzyme. Gallus Biopharmaceuticals will provide process and method development, scale-up, clinical supply and preparation for the commercial manufacturing for Genzyme’s infused protein-based therapy targeting the rare disease, Niemann-Pick type B.

Niemann-Pick type B is caused by a deficiency of an enzyme called acid sphingomyelinase. The enzyme deficiency leads to enlargement of the liver and spleen, lung disease, low blood cell counts, and in some cases a shortened lifespan.

Please Note “Team_room” By HJ van Ree (Own work) [CC-BY-SA-3.0] |Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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