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The power of three
January 2012
by Amy Swinderman  |  Email the author


SOUTH PLAINFIELD, N.J.—In late November, Roche and PTC Therapeutics joined forces to tackle spinal muscular atrophy (SMA), a genetic neuromuscular disorder that causes muscle weakness. SMA affects one out of every 10,000 children, but currently has no effective treatment.  
In the hopes of filling this high-unmet medical need, Roche has licensed PTC's SMA program. The agreement gives PTC $30 million upfront, up to $460 million in development and commercial milestone payments and double-digit royalties on commercial sales. Development will be overseen by a joint steering committee.
At its core, the partnership is "really about developing first-in-class treatments for a disease with a high, unmet medical need," says Dr. Stuart Peltz, president and CEO of PTC. SMA is caused by a missing or defective SMN1 gene, which results in reduced levels of the survival motor neuron (SMN) protein.  
Because the disease affects the muscles that control breathing, SMA can cause premature death. Life expectancy tends to vary by SMA type, which is generally associated with age of onset of symptoms. The severity of symptoms varies widely depending on SMA type involved and the stage of the disease, but even its moderate form, SMA can limit function and mobility. People with SMA either never acquire, or progressively lose, the ability to walk, stand, sit and eventually move. People with SMA often develop bone and/or spinal deformities that may require surgical treatment. Respiratory illnesses may be more common for people living with SMA and can be severe.
There is no known cure for the disease, which could be eligible for orphan status by regulatory authorities. Should that status be granted, this could reduce the time needed for a drug to reach patients.  
The compounds in PTC's SMA program treat the underlying cause of the disorder. Early testing in research models of the disease has shown that the compounds increase SMN levels in the central nervous system, muscles and other tissues. The program includes three compounds currently in preclinical development, as well as several potential back-up compounds.  
"Not only do we have one compound to move forward, but we also have backups, so if for any reason the compounds fail, we have others we can move forward," notes Peltz.  
The basic science of PTC's approach to drug discovery "is very attractive," says Santarelli, adding that it "unlocks the possibility of impacting therapeutic targets that would not be possible with standard approaches."  
The partnership is Roche's first experience working in the area of SMA, says Luca Santarelli, global head of Roche Neuroscience, and he adds that the agreement will boost Roche's work in the area of central nervous system diseases.  
"It is our goal to get very close to the science and develop mechanistic agents, allowing us to individualize medicine for every patient. This makes us different from a lot of others that have played in this field in the past, and we believe this goal is part of the reason we are still in this game," Santarelli says.  
Roche was compelled by "the serious nature of this condition, its very high unmet need and the fact that it affects children," adds Santarelli. "For me, this was a very strong motivator to identify a potential treatment. In this case, the ability to achieve normal-level expression of a protein lacking because of a genetic deficit is the key to solving this disease."  
Notably, PTC and Roche consider their work a "three-way partnership," as the SMA Foundation is also closely involved. Founded in 2003, the nonprofit organization has to date invested more than $100 million on developing a portfolio of drug discovery assets to treat SMA. PTC's program has been developed in partnership with the SMA Foundation, which will remain active in the collaboration.
"It's quite unique that an advocacy group places patients as equal members of this kind of collaboration," says Peltz.  
The foundation's involvement in the partnership "adds a lot of value" in that it is scientifically sophisticated, not just dedicated to providing funding or other resources for patients.  
"Unlike other charitable foundations, this one decided to go after the science," Santarelli says. "Their mission is solving the disease and getting to its root problem. In addition to that, what they bring to the table is a connection with the families, caregivers and doctors. This gives us instant access to a network of patients with whom we conduct trials and get a targeted, sophisticated understanding of the disease."  
"At the end of the day, these organizations are not only your customers, but people who will help or hurt you in moving forward," Peltz adds. "If they are not yelling for it, there is probably not someone working on it. They are not only doing something scientifically exciting, but their mission is so important. If this works, we will have changed the lives of these people."  

Roche and Labcyte integrate systems to boost qPCR-based RNA/DNA analyses  
SUNNYVALE, Calif.—Roche and Labcyte Inc. will cooperate around high-speed, miniaturized quantitative PCR (qPCR) to monitor the expression of tens to thousands of genes for therapeutic research, Roche announced last month.  
Roche's RealTime ready Cell Lysis kit enables gene expression directly from cell lysates. Coupled with Echo liquid handlers and newly released tissue culture microplates from Labcyte, researchers can greatly simplify high-throughput qPCR analyses, Roche said in a press release announcing the integration.
According to Roche, this process can be fully automated using the Access Workstation from Labcyte, which integrates the Echo liquid handler with either the LightCycler 480 or LightCycler 1536 Instrument. Gene expression profiles derived in a one-step process directly from cells can now be streamlined into a simple automated workflow, significantly increasing productivity, said Roche.
"This integrated platform reduces data costs associated with gene expression profiling, allowing efficient incorporation of qPCR into the early stages of drug discovery," said Dr. Matthias Hinzpeter, Roche's qPCR/NAP systems project leader. 

Code: E011223



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