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How The Stop ALD Foundation is Helping to Find a CureLike a venture capital firm, we seek out creative, promising ideas and support them with whatever resources are necessary to bring the project to successful completion. But instead of seeking out ideas that can make a lot of money, we pursue therapy ideas with the greatest promise of curing ALD. The Stop ALD Foundation fills the gap between research, where new scientific ideas are discovered, and development, the delivery of a new therapy to human patients. Ordinarily, this gap�known as translational research�is filled by pharmaceutical or biotechnology companies, but with less common conditions, such as ALD, it isn�t profitable for them to do so. That�s where the Foundation comes in. Learn more about...
The Stop ALD Foundation's Two Main Research Goals We work with innovative, forward-thinking ALD researchers on two main goals:
The work defined above is generally performed by biotechnology and pharmaceutical companies, but in Orphan Diseases, such as ALD, it is left undone. We are stepping in to fill the gap between research, where ideas are discovered, and development, the delivery of a therapy to human patients. Our guiding principle is to make the investments that will most effectively lead to viable therapies in the shortest time frame. We do not accept grant applications; instead, we select and manage projects initiated through the foundation staff�s contact network of ALD and disease therapy experts. This allows us to act rapidly to pursue promising ideas. Gene therapy research and implementation as a treatment for ALD has been the highest priority since the inception of The Stop ALD Foundation. In the early days of The Stop ALD Foundation, a thorough review by ALD experts, along with an international multi-disciplinary team, concluded that gene therapy applied to the patient�s own stem cells was the best approach to pursue. After comprehensive preclinical lab experiments, including work in tissues and cell cultures and in rodents, yielded encouraging results, a new gene therapy vector was designed, and ultimately manufactured by a California-based biotech company. The first clinical trial of the gene therapy approach is now underway in France, under the supervision of Patrick Aubourg, professor of pediatrics at Hospital St. Vincent in Paris. The objective of this initial trial is to test both the safety of this new approach, as well its effectiveness. Usually, in an initial trial such as this, the regulatory bodies such as the US Food and Drug Administration or France�s AFSSAPS (their equivalent of the FDA) will only allow initial testing of safety, to make sure the therapy does no harm. However, since ALD is a rare disease, the trial will also be allowed to study how effective the treatment is as well. This is both unusual and wonderful news since the research team can learn more from the initial trial. From a disease perspective, the boys in the trial are considered good candidates for stem cell transplant (relatively earlier stages of cerebral ALD), but do not have good matches available. These boys would otherwise have to wait for a match to become available � all the time getting sicker and sicker, or they might possibly be transplanted with a significantly mismatched donor and need to face the sometimes fatal results of this type of procedure. The ALD gene therapy project is a multimillion dollar protocol. The Foundation was successful in spending only a fraction of this amount in order to marshal these resources on behalf of ALD research. With direct Foundation expenditures of less than $200,000 we have received capital and other investments of greater than $2 million (a 10x boost to our seed investment). A Gene Very Similar to The ALD Gene The Stop ALD Foundation is also pursuing ALD homologue up-regulation. This is a way to encourage a gene that already exists in its normal form in all ALD patients to "over-express" so that it could compensate for the initial ALD defect. Work in mice has led us to believe this could have actual impact on disease progression in ALD patients. The Stop ALD Foundation has arranged for GlaxoSmithKline (GSK), the world�s second largest pharmaceutical company, to share a small part of their library of compounds with the Austrian lab that is the leader in this category of ALD research. A series of experiments have been designed and promising results have begun to emerge. Again, as a result of The Foundation "seeding" this work by investing a relatively small amount of resources, we are hopeful this project will now be pursued more aggressively. We will monitor progress in Europe, and we intend to participate as further needs may arise. Transcriptomics: Predicting an ALD Child�s Fate and Finding New Pharmaceutical Compounds to Help The third project, Transcriptomics, is aimed toward learning more about the various forms of ALD. This may offer two broad categories of opportunities. First, once pathways and mechanisms are better described and understood, specific targets can then be identified where pharmaceutical intervention may prevent or ameliorate clinical signs. Another area of interest is prediction of disease phenotype (how the disease "presents itself" in a particular child). Given today�s therapies, there would be tremendous value in predicting whether a particular young boy was facing cerebral involvement in the near future, or whether he was destined to suffer from AMN as an adult. Current stem cell therapies (both bone marrow and cord blood transplantation) are very risky procedures and often, the outcome is better if performed when the patient is younger. If the family and their doctors could have a definitive technique to predict whether a young child was going to have a deadly cerebral onset as a child, that technique would be an extremely useful tool when making the decision if and/or when to transplant a particular patient. We must remind ourselves that we still do not fully understand the pathology of this dreadful disease. Many questions still exist: What role (if any) is played by the elevated long chain fatty acids? Why do males who carry identical gene mutations have different forms of ALD? Why do some female carriers show AMN symptoms (e.g., walking and bladder control problems) and others don�t? Can the form of disease presentation be predicted? The answer to all these questions, and many more, is, unfortunately, at the present time, "we don�t know." In an effort to better understand the mechanism of the disease, The Foundation has arranged for an interactive and cooperative Transcriptomics project between GlaxoSmithKline (GSK) and Dr. Patrick Aubourg (INSERM, Paris, France). Transcriptomics is the description and study of gene expression patterns. Most fortunately, we have been able to utilize hundreds of thousands of dollars worth of equipment and expertise in order to better describe and understand the complex protein production and interactions that occur in the various human ALD pathological states. Furthermore some of this data is being analyzed via very sophisticated proprietary techniques so that useful interpretations can be made. The next steps with this technology will be to try to develop a better prediction technique for patients. Mesynchymal Stem Cell (MSC) Therapy Mesenchymal stem cells are multipotent stem cells�often cultured from bone marrow cells�that can differentiate into a variety of cells. This experimental therapy involves the use of MSCs taken from the bone marrow of adult donors and delivered into the blood and brains of ALD patients who are at an advanced ALD stage. In the first phase trial of MSCs, these stem cells would be used in conjunction with conventional bone marrow transplants, in hope that the MSCs applied to the brain would reduce the 6 to 18 month continued deterioration that is currently observed when transplansts are performed. The Mesynchymal Stem Cell (MSC) Therapy project involves scientists and physicians from St Jude�s Hospital (Memphis, Tennessee), Children�s Hospital of Philadelphia, Tulane University School of Medicine (New Orleans, Louisiana), and leading researchers and physicians in Germany.
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