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Pfizer Licenses Families of Spinal Muscular Atrophy Quinazoline Drug Program from Repligen.
January 3, 2013.

Families of SMA funded and directed the preclinical development of RG3039 with an investment of more than $13 million. This was the first drug discovery program ever conducted specifically for SMA.  Repligen licensed RG3039 in 2009 from Families of SMA.

We believe this collaboration with Pfizer, a leading pharmaceutical company with specialized efforts in orphan and genetic diseases, has the potential to accelerate the development of therapies for SMA,” said Walter C. Herlihy, Ph.D., President and Chief Executive Officer of Repligen. Click here for the Repligen announcement.

There is a critical need to expedite potential treatment solutions for rare diseases such as spinal muscular atrophy, where patients have such limited options,” said Jose Carlos Gutierrez-Ramos, Senior Vice President, Pfizer BioTherapeutics R&D. “This partnership will combine our expert capabilities in advancing molecules for genetic diseases with Repligen’s leading SMA program.”

This licensing deal demonstrates the innovative collaborations that Families of SMA has successfully implemented between non-profit, biotech and big pharma,” stated Jill Jarecki, Ph.D., Research Director for Families of SMA. “These partnerships are critical for the development of new treatments for an orphan disease such as SMA. We are extremely pleased to see Pfizer taking the lead on the development and commercialization of the SMA program, following Repligen’s development work and FSMA’s original investment.”

FSMA began the Quinazoline/RG3039 program in 2000 at the very initial stages of drug development, when risk is the highest.  It was the very first industrial drug program for SMA ever conducted.  The direction from FSMA provided the positive results necessary to license the program to Repligen and now Pfizer to leverage resources and expertise for clinical development.

Through FSMA’s leadership and research funding of over $13 million, a drug candidate has been created that treats the underlying cause of SMA.  In preclinical studies, the drug has been shown to efficiently cross the blood brain barrier, a critical feature for a neurological drug, and prolong survival significantly in two different mouse models of SMA.

The FSMA research model is to fund early stage drug discovery programs for SMA and then partner with companies for later stages and accelerated clinical development.  At the earliest stages of drug development, programs have less than a 1% chance of success. This inherent risk along with small patient populations has traditionally hindered industry from working on orphan diseases.


The SMA program includes RG3039, a small molecule drug candidate in clinical development for SMA, as well as backup compounds and enabling technologies.  Under the terms of the agreement, Repligen is responsible for completing the first two cohorts of an active Phase 1 trial evaluating RG3039 in healthy volunteers, which it anticipates will occur during the first quarter of 2013. Repligen will also provide certain technology transfer services to Pfizer who will then assume full responsibility for the SMA program moving forward, including the conduct of any registration trials necessary for product approval. Repligen has previously received U.S. Orphan Drug and Fast Track designations for RG3039 for the treatment of SMA, as well as Orphan Medicinal Product designation in the EU.
Click here for key program results.

Timeline of Events:
1990’s: The back-up gene in SMA, called SMN2, was discovered as a therapeutic target for SMA with funding from FSMA. 
2000: Families of SMA began the Quinazoline project with Aurora Bioscience/Vertex Pharmaceuticals by performing drug screens for SMA.
2003: Families of SMA starts works with deCODE to optimize drug candidates and conduct pre-clinical development of a new drug for the treatment of SMA starting from the lead compounds discovered at Aurora/Vertex.
August 2009: Families of SMA received FDA Orphan Drug Designation for the clinical drug candidate in this program, for the treatment of SMA. The first time a new therapy specifically designed for SMA has ever reached the important stage of being awarded orphan drug status by the FDA.
October 2009: Families of SMA licensed this series of compounds to Repligen Corporation for industrial scale investment and expertise for clinical development.
May 2011: Repligen Corporation received approval from the FDA to being human safety trials on the Quinazoline drug, now called RG3039.  The first ever clinical trial approved for SMA with a novel drug specifically designed to treat the disease.
September 2012: Repligen Corporation initiated a Phase 1b clinical study of RG3039 to further evaluate the safety and plasma pharmacokinetics of multiple doses of RG3039 in healthy volunteers.
January 2013: Pfizer licenses the Families of SMA RG3039/Quinazoline program from Repligen.

Families of SMA
Families of SMA is the world’s leader focused on funding SMA research to develop a treatment and cure for the disease. The successful results and progress that the organization has delivered, from basic research to drug discovery to clinical trials, provide real hope for families and patients impacted by the disease. The charity has invested over $55 million in research and has been involved in funding half of all the ongoing novel drug programs for SMA. Families of SMA is a nonprofit 501(c)3 organization, with 31 Chapters and 90,000 members and supporters throughout the United States. The organization’s work has produced major discoveries, including identification of the underlying cause and a back-up gene for the disease, which provides a clearly defined target for disease altering therapies. The organization is also dedicated to supporting SMA families through networking, information and services and to improving care for all SMA patients.

Pfizer Inc.
Pfizer's Orphan and Genetic Disease Research Unit is adopting an innovative and collaborative approach to the development of new medicines whereby it looks to develop strategic partnerships with academic and commercial enterprises to create novel therapeutics across the spectrum of rare diseases.

Repligen Corporation
Repligen Corporation is a life sciences company focused on the development, production and commercialization of high-value consumable products used in the process of manufacturing biological drugs.


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