January 3, 2013.

Repligen Corporation announced today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen’s spinal muscular atrophy (SMA) program, originally in-licensed from Families of SMA (FSMA).

Families of SMA funded and directed the preclinical . . . → Read More: Progress in SMA Drug Treatments – Exciting News!]]> Pfizer Licenses Families of Spinal Muscular Atrophy Quinazoline Drug Program from Repligen.

January 3, 2013.

Repligen Corporation announced today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen’s spinal muscular atrophy (SMA) program, originally in-licensed from Families of SMA (FSMA).

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.

This new license agreement with Pfizer marks a significant advance for the SMA community by securing the commitment of one of the worlds largest pharmaceutical companies to develop potential treatments for the disease.

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.
www.curesma.org.

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. www.pfizer.com

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. www.repligen.com.

Credit: Families of SMA

]]> August 11 2013
Mahoning Valley Country Club

]]> http://teamlyla.org/?feed=rss2&p=187 0 http://teamlyla.org/?p=153 http://teamlyla.org/?p=153#comments Tue, 04 Sep 2012 00:32:36 +0000 teamlylacom http://teamlyla.org/?p=153 . . . → Read More: 3rd Annual Dance Away SMA – Details & Ticket Orders]]> Please Join us on Saturday September 29th, 2012 to

Dance Away SMA

Donate Now!

Swing for a Cure was a great success!! With beautiful weather and a great turnout we were able to raise over $2,100 for Families of SMA!! We are looking forward to next years event! Join us for a great time and to raise funds to find a cure for SMA.  . . . → Read More: Swing for a Cure for SMA 2012 – Final Update!!]]> Swing for a Cure 2012

Swing for a Cure was a great success!! With beautiful weather and a great turnout we were able to raise over $2,100 for Families of SMA!! We are looking forward to next years event!
Join us for a great time and to raise funds to find a cure for SMA.  There will be contests including, hole in one, closest to pin, and longest drive!  Bring your friends and family and have a great day with a nice barbeque to finish up.  Don’t miss the fun!
Where – Mahoning Valley Country Club – Lehighton PA
When: Sunday August 26th 2012
Time: Registration at 8:00 AM,  Shotgun Start at 9:00 AM
Cost: $65 per person
Download Brochure Here
Register Here:

Isis Pharmaceuticals, Inc. announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA).  Isis is developing ISIS-SMNRx as a potential treatment for all types of SMA.

The Phase 1 study of ISIS-SMNRx is a single-dose, dose-escalation study . . . → Read More: Isis Pharmaceuticals Initiates Phase 1 Clinical Study in Patients with Spinal Muscular Atrophy]]> This article was published by FSMA on December 19th.

Isis Pharmaceuticals, Inc. announced today that it has initiated a Phase 1 study of ISIS-SMNRx in patients with spinal muscular atrophy (SMA).  Isis is developing ISIS-SMNRx as a potential treatment for all types of SMA.

The Phase 1 study of ISIS-SMNRx is a single-dose, dose-escalation study designed to assess the safety, tolerability and pharmacokinetic profile of the drug in children with SMA between the ages of 2-14 who are medically stable.  In this study, ISIS-SMNRx will be administered intrathecally as a single injection directly into the spinal fluid.  Intrathecal administration of an antisense drug, ISIS-SOD1Rx, has been shown to be safe and well tolerated in an ongoing Phase 1 study in patients with amyotrophic lateral sclerosis.

“SMA represents a serious unmet medical need with no currently available treatments.   ISIS-SMNRx is our first drug to intervene in the splicing of RNA to increase the production of a normal protein, SMN.  Together with Dr. Krainer’s lab, we have validated the antisense approach to treating this disease and are now advancing this program into clinical studies,” said C. Frank Bennett, Ph.D., Senior Vice President of Research at Isis.  “We are committed to quickly developing this drug and are finalizing what we believe will be a rapid development path for this drug in all types of SMA.  Once we evaluate ISIS-SMNRx as a single-dose in children with SMA, we will move to multiple-doses in our Phase 1 studies and eventually evaluate the drug in Phase 2 studies in children with SMA, including infants with Type I SMA.”

“Our strategy to treat SMA relies on a simple, powerful antisense method that boosts SMN protein levels by fixing a genetic RNA splicing glitch.  Working with Isis, we have successfully redirected splicing to increase functional SMN production.  We have thoroughly validated this approach in multiple animal models, observing marked improvement in modifying the disease course in both mild and severe models of SMA,” said Adrian Krainer, Ph.D., Professor of Molecular Genetics at Cold Spring Harbor Laboratory in Long Island, NY.  “We look forward to translating this important discovery into an effective treatment for this serious disease.” Dr. Krainer is a member of the FSMA Scientific Advisory Board.

“We are very pleased to see the great milestone of a disease-modifying drug treatment advancing into clinical trials in SMA patients,” said Kenneth Hobby, President of Families of SMA.  “Our community has worked for a long time to reach the goal of moving specific therapies for SMA from the bench and into the clinic.  This has been made possible by close interactions between basic researchers, families, clinicians, and industry.  Families of SMA applauds ISIS for investing in and leading drug developments efforts for this devastating, orphan disease.”

Click here to see the full press release.

Isis Pharmaceuticals exclusively licensed certain intellectual property from the University of Massachusetts to develop this new drug for Spinal Muscular Atrophy.  Families of SMA provided over $500,000 in funding support for the University of Massachusetts’ research program responsible for creating this intellectual property.
Please click here to read about this licensing agreement and FSMA’s involvement.

“SMA is a terrible disease and the leading genetic cause of infant mortality.  The ability of our drugs to specifically target RNA and drive the production of SMN may be able to compensate for the underlying genetic defect and offer some therapeutic benefit to patients with SMA.  We are grateful for the support provided by Families of SMA in funding early research on SMA, which has significantly expanded the basic science of SMA and provided a roadmap to developing the first targeted therapy to treat SMA,” said Frank C. Bennett, Ph.D., Senior Vice President of Research at Isis Pharmaceuticals.

Click here for a recent update from ISIS given at the FSMA Annual Conference.

The United States Food and Drug Administration granted Orphan Drug Designation with Fast Track Status to ISIS-SMNRx for the treatment of patients with SMA.

For more information on the Phase 1 study of ISIS-SMNRx please visit: www.clinicaltrials.gov .

Please click here for the ISIS web page.

Please click here for more information about ASO therapies for SMA.

Please click here for more about the clinical trial process and the goals of Phase I Studies. 

About Splicing
Splicing is a normal mechanism that the cell uses in order to produce many different, but closely related proteins from a single gene by varying the processing of the RNA.  It is estimated that of the approximately 25,000 genes in the human genome, approximately 90% have alternative splice forms.  In some cases, alternative splicing of RNA results in the production of proteins that are involved in disease.  These diseases are referred to as splicing diseases and include SMA, cystic fibrosis and Duchenne’s muscular dystrophy.
Click here to see the ISIS Fact Sheet on splicing.

Have stuff to sell? Rent a table the day of the event or just stop by to . . . → Read More: Flea Market to raise funds for SMA]]> One mans junk is another mans treasure!! Have some free time on Saturday, November 5th? Come visit the flea market at the Northampton County Senior Center in Centre Square Easton.  The event runs from 8 – 2 PM.

Have stuff to sell? Rent a table the day of the event or just stop by to find a treasure. Lunch will be served by the Team Lyla crew.  All proceeds from table rentals, food sales, and yummy baked goods will help Team Lyla fight SMA!!  Any questions just tweet us, @LM_Foundation.

Repligen Corporation provided a short update in their quarterly report released today on the Phase I Trial in adult volunteers on the Spinal Muscular Atrophy Drug RG3039.  This is . . . → Read More: Repligen Corporation Provides Update on the Phase I Trial for the SMA Drug 3039]]> Attached is an update regarding a drug trial being funded by Families of SMA.  These are the types of programs that our fundraising helps to support.

Repligen Corporation provided a short update in their quarterly report released today on the Phase I Trial in adult volunteers on the Spinal Muscular Atrophy Drug RG3039.  This is the first novel drug specifically designed for SMA to reach the clinic. The drug, Quinazoline495, was licensed to Repligen from Families of SMA for clinical development in 2009.  Families of SMA fully managed and funded the program until the stage of clinical development.

The Repligen report indicated: 

We are developing RG3039 for Spinal Muscular Atrophy (SMA) which is serious and debilitating neurodegenerative disease typically diagnosed in childhood.  SMA is characterized by a defect in a single gene which results in diminished production of a key protein.  During the quarter we enrolled 24 subjects in a Phase 1 clinical study of RG3039 in healthy volunteers. To date there have been no serious adverse events in any subject.

Click here to read the full report.

Families of SMA fully funded and directed the preclinical development work with an investment of more than $13 million prior to licensing RG3039 to Repligen. Families of SMA previously secured U.S. Orphan Drug Designation for RG3039, providing important regulatory and marketing incentives for the program. The work led by Families of SMA was the very first drug development program ever done for SMA.

Please click here for the history of the Quinazoline Program at FSMA, including the original approval announcement for this trial.

New Updates:

October 18, 2011.

In the Fall 2011 issue of “Compass” Families of Spinal Muscular Atrophy announces seven new basic research grant awards. These new awards encompass $745,000 for the basic research portion of the $3 Million in . . . → Read More: Families of SMA Awards 7 New Basic Research Grants]]> Families of SMA Awards 7 New Basic Research Grants for $745,000 to Develop New Approaches for SMA Therapies. 

October 18, 2011.

In the Fall 2011 issue of “Compass” Families of Spinal Muscular Atrophy announces seven new basic research grant awards. These new awards encompass $745,000 for the basic research portion of the $3 Million in new research funding that FSMA announced earlier this year.

Click the image below to download a copy and read a description of our newly funded projects:

What is Our Research Goal at FSMA?
Our main goal is to accelerate the discovery of an effective therapy and cure for SMA by funding and advancing a comprehensive research program, using a three-pronged approach:
1) Basic Research to reveal the best ways of making SMA drugs,
2) Drug Discovery to make new drugs, and
3) Developing Clinical Trial infrastructure to help test new drugs.

Why is Basic Research Important to Our Overall Strategy?
Basic research is a critical component in finding a treatment for SMA. It provides fundamental information about what is going wrong in SMA by telling us when and where SMN protein is needed, and what SMN protein does in different cell types. This knowledge provides seed ideas for new ways of making drugs.

The FSMA basic research program is governed by our Scientific Advisory Board (SAB). SAB bios can be found by clicking here. The SAB carefully reviews all grant applications to ensure that we fund only the best quality research relevant to our mission.

What’s Exciting About Our New Research Grant Awards?
Three of the seven new grants for 2011 will help us to understand why motor neurons are selectively vulnerable to lowered SMN levels compared to other tissue types. These grants include projects led by Dr. Henderson at Columbia University, Dr. Rossoll at Emory University, and Dr. Kothary at the University of Ottawa.

The grant to Dr. Ko at the University of Southern California will help us understand exactly where defects in SMA occur and the reasons for observed selectivity at different muscles. The grant to Dr. Monani at Columbia University will help identify new genes that are protective against lowered SMN levels and will lead to new drug targets. Finally the funded projects led by Dr. Kolb at The Ohio State University and Dr. Simard at the University of Manitoba will validate molecular biomarkers that could make future clinical trials more efficient.

Since 2004, the FSMA Scientific Advisory Board has awarded 66 basic research grants for a total of $8,195,096 in funding.  This is in addition to our drug discovery and clinical research funding.  The grants have been awarded to 47 different principal investigators at 33 different institutions.