Republicans have pro-growth ideas – tax reform, health care, reining in red tape. – Video

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Republicans have pro-growth ideas - tax reform, health care, reining in red tape.
Congressman Kevin Brady appeared on C-SPAN #39;s Newsmakers with host Susan Swain and reporters Tim Alberta with National Journal and Erik Wasson with The Hill. ...

By: Rep Kevin Brady

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Republicans have pro-growth ideas - tax reform, health care, reining in red tape. - Video

Health Care Basics

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ORLANDO, Fla.

For many, signing up for health care hasn't been as easy as signing the Affordable Care Act into law, as President Barack Obama did in March 2010.

The commercials made it look simple, but frustrations, complications and aggravation were some of the early reactions to the healthcare.gov website.

Those people are very right on, said Rachel Steinberg, Director of Business Development for Orlando Health. I mean, I work in the industry and I see I have 132 options to buy insurance. It's extremely overwhelming.

Its also time consuming.

And yes, it takes a little bit of homework, Steinberg explained. "A lot of homework, hours, sometimes, of analyzing the options.

Rachel Steinberg's an expert. She helps businesses understand the Affordable Care Act in Florida.

I've heard other technology folks say its easier to keep track of your fantasy football team online than your health care expenses, which is kind of funny because health care is very important, she added.

Jason Altmire also is a health care expert. He was a Congressman when the Affordable Care Act passed.

I voted against the law, said Altmire, who now works for Florida Blue as its Senior Vice President for Public Policy, Government and Community Affairs.

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Health Care Basics

Steady Health Care Sign-Ups May Miss Goal of 6M

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The Obama administration said Tuesday it's making steady progress on health care sign-ups, but the White House needs something close to a miracle to meet its goal of enrolling 6 million people by the end of this month.

It could happen with a sustained surge in consumer demand and a foolproof website. But they're not seeing it yet, and time is running out.

The Department of Health and Human Services said more than 940,000 people signed up during February for private coverage under President Barack Obama's health care law, bringing total sign-ups to 4.2 million.

But with open enrollment ending March 31, that means to meet the goal, another 1.8 million people would have to sign up by the end of the month, an average of about 60,000 a day.

That's way above the daily averages for January and February, which have ranged between 33,000 and 34,000. The math seems to be going against the administration.

Officials expect the pace to pick up. The big question is whether it will be enough to make up for the technical troubles that paralyzed HealthCare.gov much of last fall and the continuing challenges for several state-sponsored websites.

The goal of 6 million sign-ups is itself a lower bar than was originally set. The Congressional Budget Office scaled back its original target of 7 million because of the federal website's computer problems. HealthCare.gov serves 36 states, while 14 states and Washington, D.C., are running their own sites.

The 943,000 enrolled in February fell short of the target of 1.27 million that HHS had initially set for the month.

And the cumulative total of 4.2 million sign-ups is just three-fourths of the 5.65 million that HHS originally projected would sign up by the end of February. Those estimates were contained in a Sept. 5, 2013 departmental memo to HHS Secretary Kathleen Sebelius.

The numbers released Tuesday still don't say how many of those signing up were previously uninsured, which is the ultimate test of Obama's health care overhaul. And they don't say how many consumers have sealed the deal by paying their premiums.

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Steady Health Care Sign-Ups May Miss Goal of 6M

Ezekiel Emanuel on Reinventing American Health Care

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In the final month of open enrollment for the federal and state-run health care exchanges, one of the architects of the Affordable Care Act (ACA) has published a new book thatoffers an inside look at health care reform.

In Reinventing American Healthcare: How the Affordable Care Act Will Improve Our Terribly Complex, Blatantly Unjust, Outrageously Expensive, Grossly Inefficient, Error Prone System, Wharton health care management professor Ezekiel J. Emanuel, a special adviser on health care reform to the White House from 2009-2011, provides a history of the health care system, an examination of the ACA and an exploration of what the future holds for health care.

Recently, Hoag Levins, managing editor of digital publications at the Leonard Davis Institute of Health Economics (LDI) at the University of Pennsylvania, interviewed Emanuel for Knowledge@Wharton. In this discussion, Emanuel critiques the execution of the ACA, explains why many more changes will be needed and argues that ultimately, the ACA has been a big step in the right direction and is catalyzing positive change. (Read a review of Emanuels book on the LDI website.)

An edited transcript of the conversation follows.

Hoag Levins: The title of your book is Reinventing American Healthcare, and the subtitle is How the Affordable Care Act Will Improve Our Terribly Complex, Blatantly Unjust, Outrageously Expensive, Grossly Inefficient, Error Prone System. Were you at all concerned that the subtitle is too confrontational or absolute? Were you concerned that it might turn off some of the readers whom you would otherwise be able to influence?

Ezekiel Emanuel: I do think that the description there the complexity, the inefficiency, the expensive, error-prone system is well accepted. Before the Affordable Care Act, we did have the kind of system that was terribly expensive and inefficient. It had a lot of people uninsured. The Affordable Care Act is going to make a big dent in each one of those [issues,] and I make that argument in the book, although I should say the book is not just an argument about the Affordable Care Act. It tries to educate people about the health care system how various parties get paid, how insurance came about in the United States, all the efforts over a hundred years of trying to reform it, how the Affordable Care Act got passed and what is in the Affordable Care Act. Then I do make predictions about the future.

Levins: In the book, you take the Congressional Budget Office (CBO) to task. You talk about the tyranny of the CBO, and you say that although the CBO scores are objective and non-partisan, they are frequently wrong. You talk about the bias and how it can create real harm by [creating] roadblocks for important and worthy legislation, and you cite instances from three decades of wrong CBO estimates. How did the CBO scoring impede the ACA, and if there had not been CBO scoring, how would the ACA be different?

Emanuel: First of all, I also say that we need an umpire. I recognize that the role the CBO plays is absolutely essential. You have to have someone who is going to objectively assess a bill. But I also indicate, as you point out, that they have an institutional bias. They are always willing to, say, discount savings and assess higher costs than you might because if they are wrong if things do not cost as much or they save more than they anticipated they think there is no harm done to the system. Part of what I wanted to point out is that there is harm done to the system. [For] good ideas that might have saved, they say, No, it is really not going to save, or it is only going to save a little, or it might even cost. They may be wrong on that and inhibit a lot of good ideas from coming forward. I do cite three decades of cases from the 1980s, 1990s and the 2000s of major health care legislation where they simply have underestimated the savings that could be achieved.

The Part D Medicare drug benefit is an excellent example. Their cost estimate was 40% too high. That makes a very big difference in setting policy, especially when every politician is constantly asking, How does it score? which means, Does it save money? There are a lot of programs that we wanted to put in to the Affordable Care Act that didnt score or did not score as much as the CBO would say, and that means that when you are bargaining, you do not retain [those programs] for the bargain because you cannot get as much savings from them. I point out in the book that there are lots of [instances] where there is no precedence, so [the CBO] just guesses. Again, I did not want to fault them. I did want to just indicate how it creates a certain kind of mindset. Everyone thinks they have this model that really does predict the future. Well, they have a model. It does not predict the future terribly well, and to constantly be trying to guess what they are going to score [a program] inhibits a lot more creative policy thinking than we might otherwise get.

In a democracy, you cannot expect a perfect A+ bill. You are going to get compromises that policy makers would prefer not to be there.

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Ezekiel Emanuel on Reinventing American Health Care

Examining potential of clinical applications of whole-genome sequencing

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PUBLIC RELEASE DATE:

11-Mar-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5271 The JAMA Network Journals

In an exploratory study involving 12 adults, the use of whole-genome sequencing (WGS) was associated with incomplete coverage of inherited-disease genes, low reproducibility of detection of genetic variation with the highest potential clinical effects, and uncertainty about clinically reportable findings, although in certain cases WGS will identify genetic variants warranting early medical intervention, according to a study in the March 12 issue of JAMA.

As technical barriers to human DNA sequencing decrease and costs approach $1,000, whole-genome sequencing (WGS) is increasingly being used in clinical medicine. Sequencing can successfully aid clinical diagnosis and reveal the genetic basis of rare familial diseases. Regardless of context, even in apparently healthy individuals, WGS is expected to uncover genetic findings of potential clinical importance. However, comprehensive clinical interpretation and reporting of clinically significant findings are seldom performed, according to background information in the article. The technical sensitivity and reproducibility of clinical genetic findings using sequencing and the clinical opportunities and costs associated with discovery and reporting of these and other clinical findings remain undefined.

Frederick E. Dewey, M.D., of the Stanford Center for Inherited Cardiovascular Disease, Stanford, Calif., and colleagues recruited 12 volunteer adult participants who underwent WGS between November 2011 and March 2012. A multidisciplinary team reviewed all potentially reportable genetic findings. Five physicians proposed initial clinical follow-up based on the genetic findings.

The researchers found that the use of WGS was associated with incomplete coverage of inherited-disease genes (important parts of the genome for diseases that run in families are not as easy to read as other regions); there was low reproducibility of detection of genetic variation with the highest potential clinical effects (disagreement around the types of variation particularly important for disease); and there was uncertainty about clinically reportable WGS findings (experts disagree on which findings are most meaningful). Two to 6 personal disease-risk findings were discovered in each participant. Physician review of sequencing findings prompted consideration of a median (midpoint) of 1 to 3 initial diagnostic tests and referrals per participant.

The authors write that their clinical experience with this technology illustrates several challenges to clinical adoption of WGS, including that although analytical validity of WGS is improving, technical challenges to sensitive and accurate assessment of individual genetic variation remain. In addition, the human resource needs for full clinical interpretation of WGS data remains considerable, and much uncertainty remains in classification of potentially disease-causing genetic variants.

"These issues should be considered when determining the role of WGS in clinical medicine."

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Examining potential of clinical applications of whole-genome sequencing

Free online software helps speed up genetic discoveries

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Microarray analysis -- a complex technology commonly used in many applications such as discovering genes, disease diagnosis, drug development and toxicological research -- has just become easier and more user-friendly. A new advanced software program called Eureka-DMA provides a cost-free, graphical interface that allows bioinformaticians and bench-biologists alike to initiate analyses, and to investigate the data produced by microarrays. The program was developed by Ph.D. student Sagi Abelson of the Rappaport Faculty of Medicine at the Technion-Israel Institute of Technology in Haifa, Israel.

DNA microarray analysis, a high-speed method by which the expression of thousands of genes can be analyzed simultaneously, was invented in the late 1980s and developed in the 1990s. Genetic researchers used a glass slide with tiny dots of copies of DNA to test match genes they were trying to identify. Because the array of dots was so small, it was called a "microarray." There is a strong correlation between the field of molecular biology and medical research, and microarray technology is used routinely in the area of cancer research and other epidemiology studies. Many research groups apply it to detect genetic variations between biological samples and information about aberrant gene expression levels can be used in what is called "personalized medicine." This includes customized approaches to medical care, including finding new drugs for gene targets where diseases have genetic causes and potential cures are based on an individual's aberrant gene's signal.

An article written by Abelson published in the current issue of BMC Bioinformatics (2014,15:53) describes the new software tool and provides examples of its uses.

"Eureka-DMA combines simplicity of operation and ease of data management with the rapid execution of multiple task analyses," says Abelson. "This ability can help researchers who have less experience in bioinformatics to transform the high throughput data they generate into meaningful and understandable information."

Eureka-DMA has a distinct advantage over other software programs that only work "behind the scenes" and provide only a final output. It provides users with an understanding of how their actions influence the outcome throughout all the data elucidation steps, keeping them connected to the data, and enabling them to reach optimal conclusions.

"It is very gratifying to see the insightful initiative of Sagi Abelson, a leading 'out-of-the-box' thoughtful Technion doctorate student whom I have had the privilege of supervising," said Prof. Karl Skorecki, the Director of the Rappaport Family Institute for Research in the Medical Sciences at the Technion Faculty of Medicine and Director of Medical and Research Development at the Rambam Health Care Campus. "Over and above his outstanding PhD thesis research project on cancer stem cells, Sagi has developed -- on his own -- a user-friendly computer-based graphical interface for health and biological research studies. Eureka-DMA enables users to easily interpret massive DNA expression data outputs, empowering researchers (and in the future, clinicians) to generate new testable hypotheses with great intuitive ease, and to examine complex genetic expression signatures of genes that provide information relevant to health and disease conditions. This was enabled by combining outstanding insight and expertise in biological and computer sciences, demonstrating the unique multidisciplinary strengths and intellectual freedom that fosters creative innovation at the Technion."

According to Abelson, Eureka-DMA was programmed in MATLAB, a high-level language and interactive environment for numerical computation, visualization, and programming. Advanced users of MATLAB can analyze data, develop algorithms, and create models and applications to explore multiple hypotheses and reach solutions faster than with spreadsheets or traditional software. Eureka-DMA uses many of MATLAB's toolbox features to provide ways to search for enriched pathways and genetic terms and then combines them with other relevant features.

Raw data input is through Windows Excel or text files. This, says Abelson, spares the user from dealing with multiple and less common microarray files received by different manufacturers. Results can then be exported into a 'txt' file format,' or Windows Excel, making Eureka-DMA a unified and flexible platform for microarray data analysis, interpretation and visualization. It can also be used as a fast validation tool for results obtained by different methods.

Eureka-DMA loads and exports genetic data, "normalizes" raw data, filters non-relevant data, and enables pathway enrichment analysis for mapping genes on cellular pathways. The user can browse through the enriched pathways and create an illustration of the pathway with the differentially expressed genes highlighted.

After identifying the differentially expressed genes, biological meaning is ascribed via the software so that the identification of significant co-clustered genes with similar properties -- cellular components, a biological process, or a molecular function -- can be achieved.

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Free online software helps speed up genetic discoveries

Scheie Eye Institute at the University of Pennsylvania Awarded NIH Grant to Study the Genetics of Glaucoma in African …

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Newswise (PHILADELPHIA) Researchers at the Scheie Eye Institute, the department of Ophthalmology of the University of Pennsylvania have been awarded a five-year, $11.2 million grant from the National Institutes of Health (NIH) to study the genetic risk factors that make African Americans disproportionately more likely to develop primary open-angle glaucoma (POAG). POAG appears almost ten years earlier and progresses more rapidly in African Americans than among Caucasian individuals, making it the leading cause of irreversible blindness in this population. Approximately two million Americans suffer from this form of glaucoma.

The goal of our study is to identify the genetic and other risk factors that underlie POAG in order to understand this increased burden of disease in African Americans, says Joan OBrien, MD, chair of the department of Ophthalmology in Penns Perelman School of Medicine, director of the Scheie Eye Institute, and primary investigator on the study.

POAG is a group of diseases that cause progressive and irreversible retinal ganglion cell damage, optic nerve degeneration, and corresponding visual field loss. Once a sufficient number of nerve cells are damaged, blind spots begin to form in the patients peripheral field of vision. Even when medical and surgical management are employed, retinal ganglion cell loss can be progressive and irreversible.

We aim to understand more about the disease, its causes, and what makes African Americans more prone to developing POAG at a younger age and experiencing its most severe form, says OBrien. Surprisingly, researchers today still have a poor understanding of what causes POAG, which hinders early identification and focused treatment of the disease.

We know that there is a genetic component to the disease, as family history has a strong influence, says OBrien. The risk of developing POAG increases tenfold when a parent or sibling has the disease, with even larger increases when an identical twin is affected. By dissecting the disease into subtypes (called endophenotyping) and understanding the different genetic underpinnings of the disease, we can begin to develop better, more targeted treatment options.

OBrien will work with Scheie glaucoma specialists, Eydie Miller-Ellis, MD; Prithvi Sankar, MD; and Meredith Regina, MD, PhD, to conduct a comprehensive genetic analysis of POAG in African Americans. Their genome-wide analysis will help identify the biological pathways and networks underlying the disease in 12,766 patients: 4,400 with POAG and 8,365 controls. Additional data will be provided by the Kaiser Permanente Research Program, which received ARRA Stimulus funding to analyze 100,000 genomes, with analysis performed in collaboration with Stanford University. To date, 2,500 Philadelphia-based patients and controls have been enrolled in the study.

Our hypothesis is that genetic variants influence the risk of POAG and the traits related to that risk, such as intraocular pressure and corneal and retinal nerve fiber layer thickness. In addition, we believe that demographic and ocular risk factors, and medical co-morbidities also contribute to the increased risk of POAG in African Americans, says OBrien.

Once these genomes are analyzed in this understudied and over-affected population, the data can be used to create a risk model of POAG in African-Americans, and inexpensively re-analyzed to elucidate the genetics of other diseases that disproportionately affect this population. # # #

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Scheie Eye Institute at the University of Pennsylvania Awarded NIH Grant to Study the Genetics of Glaucoma in African ...

Gene therapy for lysosomal storage disease shown to be safe and well tolerated

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PUBLIC RELEASE DATE:

11-Mar-2014

Contact: Jennifer Quigley jquigley@liebertpub.com 914-740-2100 x2149 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, March 11, 2014Several young children suffering from a severe degenerative genetic disease received injections of therapeutic genes packaged within a noninfectious viral delivery vector. Safety, tolerability, and efficacy results from this early stage clinical trial are reported in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Human Gene Therapy website.

Marc Tardieu, Universit Paris-Sud and INSERM, and a team of international researchers administered the adeno-associated viral (AAV) vector carrying a normal copy of the N-sulfoglycosamine sulfohydrolase (SGSH) gene into the brains of four children affected by mucopolysaccharidosis type IIIA (MPSIIIA), an inherited lysosomal storage disease in which the SGSH gene is defective. The AAV vector also delivered a sulfatase-modifying factor (SUMF1), needed to activate the SGSH protein.

In addition to measures of toxicity, adverse events, and tolerability, the researchers evaluated the children for brain shrinkage (a characteristic of MPSIIIA) and for changes in behavior, attention, sleep, and cognitive benefit. They describe their findings in the article "Intracerebral administration of AAV rh.10 carrying human SGSH and SUMF1 cDNAs in children with MPSIIIA disease: results of a phase I/II trial."

"This is an important new approach for treating CNS manifestations of lysosomal storage diseases that could be applied across a wide array of disorders," says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia.

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About the Journal

Human Gene Therapy, the official journal of the European Society of Gene and Cell Therapy, British Society for Gene and Cell Therapy, French Society of Cell and Gene Therapy, German Society of Gene Therapy, and five other gene therapy societies, is an authoritative peer-reviewed journal published monthly in print and online. Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans. Related topics include improvements in vector development, delivery systems, and animal models, particularly in the areas of cancer, heart disease, viral disease, genetic disease, and neurological disease, as well as ethical, legal, and regulatory issues related to the gene transfer in humans. Its sister journals, Human Gene Therapy Methods, published bimonthly and focuses on the application of gene therapy to product testing and development, and Human Gene Therapy Clinical Development, published quarterly, features data relevant to the regulatory review and commercial development of cell and gene therapy products. Tables of content for all three publications and a free sample issue may be viewed on the Human Gene Therapy website.

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Gene therapy for lysosomal storage disease shown to be safe and well tolerated

GENETHON and ESTEVE announce agreement to manufacture the gene therapy for the treatment of Sanfilippo syndrome

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PUBLIC RELEASE DATE:

11-Mar-2014

Contact: Press Office presse@afm.genethon.fr AFM-Tlthon

France March 11, 2014 ESTEVE, a Spanish pharmaceutical company devoted to the research, development, manufacturing and commercialization of novel medicines and Genethon, a nonprofit organization dedicated to the research and development of gene therapies for orphan genetic diseases, announce that they have entered into an agreement to manufacture Esteves investigational gene therapy for the treatment of Sanfilippo A Syndrome, AAV9-hsulfamidase, under GMP.

"We are very happy to contribute to the development of the treatment for Sanfillippo A developed by Esteve. The quality of the project and of the teams both academic and industrial participating in the program is outstanding and it is our goal to support clinical development with our biomanufacturing expertise, in the most efficient way, and in the best interest of patients" explained Frdric Revah, Chief Executive Officer of Genethon.

"The signature of this agreement with Genethon is a new milestone for ESTEVE, as it enables us to advance the development of our gene therapeutic for Sanfilippo A towards clinical trials. We are very pleased to collaborate with Genethon, a reference center in manufacturing of gene therapies for rare diseases. Our mission at ESTEVE R&D is the development of innovative products to meet patient needs and that is why this is one of our highest priority projects today." said Albert Esteve, CEO of ESTEVE.

ESTEVE is developing the Sanfilippo project in a Public and Private Partnership (PPP) with the Universitat Autnoma de Barcelona (UAB) for the development of gene therapies for mucopolysaccharidoses. The program relies on state-of-the art science developed at the CBATEG (Center of Animal Biotechnology and Gene Therapy) of the UAB. The most advanced project in this program is the development of a novel gene therapy treatment for Sanfilippo A Syndrome.

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About MPS III A (Sanfilippo syndrome Type A)

Sanfilippo A Syndrome is a devastating disease that leads to progressive and significant deterioration in mental status of children who rarely live beyond their twenties. Diagnosis of many rare diseases are lengthy and time consuming and is only initiated once the symptoms have begun to appear like the Sanfilippo Syndrome, a lysosomal storage disease caused by the loss of the activity of the enzyme sulfamidase. It affects approximately 1 in 100,000 births and is still largely underdiagnosed.

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GENETHON and ESTEVE announce agreement to manufacture the gene therapy for the treatment of Sanfilippo syndrome

ESTEVE and UAB advance in their program to develop a cure for Sanfilippo A Syndrome

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PUBLIC RELEASE DATE:

11-Mar-2014

Contact: M. Angels Valls avalls@esteve.es 34-934-466-286 Universitat Autonoma de Barcelona

ESTEVE has announced the signing of two agreements that will enable it to progress the development of its gene therapeutic for the treatment of Mucopolysaccharidosis type IIIA (MPSIIIA or Sanfilippo A Syndrome) and begin a phase I/II clinical trial in 2015. The agreements are with the North American biotechnology company REGENX Biosciences, LLC (REGENX) and with the French non for profit organization GNTHON.

The license agreement with REGENX grants ESTEVE the right to use the adeno-associated viral vector, NAV rAAV9, in the development and commercialization of its investigational gene therapy for the treatment of Sanfilippo A Syndrome. The vector NAV rAAV9 is an integral part of the investigational therapeutic and enables the gene for the enzyme Sulfamidase, missing or defective in patients with Sanfilippo A Syndrome, to be delivered to and enter cells such as neurons and hepatocytes. Once inside the cells the gene expresses the Sulfamidase enzyme stably, compensating for its absence hence addressing the cause of the disease. The agreement with GNTHON is for the development of the manufacturing process of the investigational gene therapeutic and its production for clinical trial use. The process to be developed will allow the production of the therapeutic for preclinical toxicology studies, the clinical trial and eventually for commercial use.

Public-private partnership ESTEVE-UAB

The Sanfilippo project was initiated by the research team of Dr. Ftima Bosch at the Center for Biotechnology and Gene Therapy (CBATEG) of UAB and since 2009 is being developed within the framework of a public-private partnership between ESTEVE and the University, aimed at developing gene therapies for the treatment of this syndrome and related diseases called mucopolysaccharidoses. This research project was initiated at the CBATEG due to the petition of the Asociacin MPS-Fabry Espaa.

In this partnership, ESTEVE leads all activities associated with the management and protection of intellectual property, regulatory activities, the coordination and supervision of GMP manufacturing, the preclinical toxicology studies as well as all clinical development. The CBATEG research team at the UAB brings to the partnership their scientific know-how and expertise in gene therapy including viral vector design and the development of preclinical disease models.

The investigational gene therapeutic consists of the viral NAV rAAV9, licensed from REGENX, which contains a version of the gene that codes for Sulfamidase that has been optimized to improve its expression levels. Experimentation using preclinical disease models performed by the CBATEG have validated the potential efficacy of this therapeutic approach. The treatment consists in the administration of gene therapy in the cerebrospinal fluid, the fluid that bathes the brain and spinal cord. The viral vector NAV rAAV9 has the advantage of its high affinity for the brain (main organ affected in this disease) than many of the other adeno-associated viral vectors, is harmless, not being known to cause any disease in humans. For its part, once the gene for the Sulfamidase enzyme reaches the cytoplasm of the neuron, it begins the production of the enzyme. Thus, it is produced enzyme which is secreted into spinal fluid, allowing its distribution throughout the brain and spinal cord and also reaching those neurons in which does not incorporate any viral vector. Furthermore, a small proportion of the gene therapeutic passes from the CSF into the peripheral circulatory system, thereby reaching organs such as the liver where it can enter hepatocytes and subsequently produce and secrete the Sulfamidase enzyme which then distributes throughout the body with the aid of the bloodstream.

In the preclinical disease model studied, after administering the gene therapeutic, the levels of Sulfamidase activity significantly increase both in the brain and the rest of the body, the accumulated glycosaminoglycans (substances that build up as a consequence of the disease) are eliminated from within cells, and signs of neuroinflammation disappear. Finally, and most importantly, the behavior is restored and the lifespan is prolonged close to normal.

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ESTEVE and UAB advance in their program to develop a cure for Sanfilippo A Syndrome

How Mystery Shopping helps better customer experience – Future of Marketing Keynote Speaker – Video

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How Mystery Shopping helps better customer experience - Future of Marketing Keynote Speaker
Mystery Shopping is a brilliant tool to gain customer insight. Pretend to be a customer and shop in your own store, phone your own call centre, try to buy on...

By: Patrick Dixon Futurist Keynote Speaker for Industry Conference

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How Mystery Shopping helps better customer experience - Future of Marketing Keynote Speaker - Video