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Spinal Muscular Atrophy: Patient Advocacy Group And Pharma

August 9, 2013

The influence of patient advocacy groups on developing new treatments for rare diseases is powerful. The trend is for patient advocacy groups to provide capital investment in preclinical and clinical research programs of pharmaceutical companies that are working on new treatment options for rare diseases. One such patient advocacy group is the Spinal Muscular Atrophy (SMA) Foundation.

On August 8, 2013, PTC Therapeutics, a biopharmaceutical company focusing on the development of treatments for orphan and ultra-orphan disorders, announces the selection of a development candidate in its SMA collaboration with Roche and the SMA Foundation. The achievement of this milestone triggers a $10 million payment to PTC Therapeutics from Roche.

The SMA program at PTC Therapeutics is developed initially in partnership with the SMA Foundation. In November 2011, PTC Therapeutics and the SMA Foundations sign a licensing agreement with Roche for PTC Therapeutics’ SMA program. Under the agreement, Roche gains exclusive worldwide license to PTC Therapeutics’ SMA program and PTC Therapeutics receives milestone payments for certain development and commercialization milestones.

The SMA Foundation is created in 2003 by Loren Eng and Dinakar Singh, parents of a child with SMA. The mission of the SMA Foundation is:

 “ … to accelerate the development of a treatment for SMA … SMA Foundation is the leading funder of SMA research worldwide – over $100 million has been spent on basic, translational, and clinical research … SMA Foundation operates as a unique blend of non-profit, venture capital, and biotech entities …”.

The following are facts about SMA :

•   Is a genetic neuromuscular disease
•   Characterized by muscle atrophy and weakness
•   Leading genetic cause of death in infants and toddlers
•   Caused by a missing or defective Survival Motor Neuron 1 (SMN1) gene
•   Affects 10,000 – 25,000 children and adults in US
•   1/6,000 – 10,000 children are born with the disorder
•   1/40-50 people (approximately 6 million in the US) are carriers of the SMA gene.

The compounds in PTC Therapeutics’ SMA program target the underlying cause of SMA by increasing the SMN protein levels in the muscles, nervous system, and other tissues.

Please Note: “Working Together Teamwork Puzzle Concept” by lumaxart (Working Together Teamwork Puzzle Concept) [CC-BY-SA-2.0] | Wikimedia Commons.

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

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