Leena Peltonen
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Research and Clinical News About Batten Disease
Documents, articles, downloads, audio and video from the research studies and clinical developments happening in and around Batten Disease.
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Help Raise Funds
Donate to Batten Disease and help fund the necessary research developments to find solutions to Batten Disease.2010 Research Award Recipients
Biswas, Sunita, PhD – Massachusetts General Hospital – Postdoctoral Fellowship
First year report for second year funding - $40,000 – CLN3
“Generation of Human iPS cells for study of NCL disease biology”
Macauley, Shannon L., PhD – Washington Univ in St Louis – Postdoctoral Fellowship
First year report for second year funding - $30,000 – CLN1
“Activated Astrocytes as Therapeutic Targets in INCL”
Funding provided by Hayden’s Batten Disease Foundation
Xu, Su – Center for Advanced Biotechnology and Medicine – Studentship
“Intrathecal Enzyme Replacement Therapy for LINCL” - $31,500 – CLN2
Funding provided by Noah’s Hope Foundation
Hofmann, Sandra L., PhD – University of Texas Southwestern –
Cooper, Jonathan D, PhD, Kings College London - $79,654 – CLN1
Enzyme Replacement Therapy for Palmitoyl Protein Thioesterase Deficiency”
Funding provided by Taylor’s Tale Foundation
Meng, Yu, PhD – (Peter Lobel, PhD- Center for Advanced Biotechnology and Medicine) Postdoctoral Fellowship - $40,000 – CLN2
“Evaluation of Peripheral Enzyme Replacement Therapy for LINCL and Development of Inductible Transgenic Model TPP1 Model”
Partial funding provided Fight 4 Nicholas Foundation
Geoghegan, James C., PhD (Beverly Davidson, PhD) University of Iowa –
Potsdoctoral Fellowship - $26,800 – CLN2
“The molecular basis for AAV-targeting of TPP1 deficient brains”
Funding provided by Our Promise to Nicholas Foundation
Chan, Chun-Hung, PhD – Sandford Research/USD - $20,000 – CLN3
“Plasma Metabolomics in Batten Disease”
Palmer, David, PhD – Lincoln University, NZ
Tammen, Immke, PhD – Univ. of Sydney, Australia - $25,000 – CLN6
“Genetic characterization of a regulatory mutation in CLN6 South Hampshire sheep”
Staropoli, John, MD, PhD – Massachusetts General Hospital
Postdoctoral Fellowship - $30,000 – All NCLs
“Development of a clinical registry and biorepository for NCL disorders”
BDSRA wishes to thank our “PARTNER” foundations in helping to fund the promising research this year.
NIH grant awarded to help build pediatric neurology research center
Baylor College of Medicine awarded $14.85 million grant to complete neurological research center at Texas Children’s Hospital
HOUSTON - (July 28, 2010) - Neurological research at Baylor College of Medicine (BCM) and Texas Children’s Hospital is getting a big boost in the form of a $14.85 million grant from the National Institutes of Health (NIH) to complete two floors of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.
“More than 300 million children suffer from a neurological deficit, but the percentage of funding for neurological research is small relative to the magnitude and societal impact of these disorders,” said Dr. Huda Zoghbi, professor in the departments of molecular and human genetics, pediatrics, neurology and neuroscience at BCM and director of the Jan and Dan Duncan NRI.
“The grant will fund the interior build-out of specific floors in the NRI, a multidisciplinary research facility for pediatric neurological diseases such as autism, epilepsy, Batten disease, cerebral palsy, and Rett and Angelman syndromes,” said Zoghbi, who is also an investigator with the Howard Hughes Medical Institute.
In addition to creating office and laboratory space, the funding will be used to build space for Nuclear Magnetic Resonance equipment that will help researchers identify metabolic fingerprints of different disorders. The NRI is scheduled to open later this year.
“We are very grateful to receive this support from the NIH to complete space to house – under one roof – BCM investigators committed to understanding the pathogenesis of childhood neuropsychiatric disorders. The build-out of additional floors in the NRI will also allow us to recruit new faculty with expertise currently lacking in the Texas Medical Center, to support interdisciplinary approaches and enhance collaborations,” said Zoghbi. “BCM and Texas Children’s have a rich partnership and dedication to research which is demonstrated in the building of the new NRI.”
“This will be the first facility in the U.S. entirely dedicated to researching pediatric cognitive developmental and neurological disorders, and developing treatments for them,” said Dr. John Swann, co-director of the NRI and scientific director of the Gordon and Mary Cain Pediatric Neurology Research Foundation Laboratories at Texas Children’s.
The NRI will ultimately bring together hundreds of researchers across multiple disciplines dedicated to understanding the unique issues of a child’s brain development and function during health and disease in the hope of bringing promising new treatments to those afflicted with neurological disorders.
The Recovery Act Limited Competition: Extramural Research Facilities Improvement Program (C06) was a unique, one-time solicitation available to domestic institutions to construct new, or remodel existing, research facilities. The goal of the grant – available in amounts ranging between $2 million and $15 million – is to facilitate and enhance the conduct of Public Health Service-supported biomedical or behavioral research. This is achieved by supporting the costs of improving non-federal basic research and clinical research to meet the biomedical or behavioral research, research training or research support needs of an institution. The National Center for Research Resources at NIH oversees and administers these grants.
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About Baylor College of Medicine
Baylor College of Medicine (www.bcm.edu) in Houston is recognized as a premier academic health science center and is known for excellence in education, research and patient care. It is the only private medical school in the greater southwest and is ranked as one of the top 25 medical schools for research in U.S. News & World Report. BCM is listed 13th among all U.S. medical schools for National Institutes of Health funding, and No. 2 in the nation in federal funding for research and development in the biological sciences at universities and colleges by the National Science Foundation. Located in the Texas Medical Center, BCM has affiliations with eight teaching hospitals, each known for medical excellence. Currently, BCM trains more than 3,000 medical, graduate, nurse anesthesia, and physician assistant students, as well as residents and post-doctoral fellows. BCM is also home to the Baylor Clinic, an adult clinical practice that includes advanced technologies for faster, more accurate diagnosis and treatment, access to the latest clinical trials and discoveries, and groundbreaking healthcare based on proven research. Follow Baylor College of Medicine on facebook (http://www.facebook.com/BaylorCollegeOfMedicine) and twitter (http://twitter.com/BCMHouston).
About Texas Children’s Hospital
Texas Children's Hospital is committed to a community of healthy children by providing the finest pediatric patient care, education and research. Renowned worldwide for its expertise and breakthrough developments in clinical care and research, Texas Children's is nationally ranked in all ten subspecialties in U.S.News & World Report's list of America's Best Children's Hospitals. Texas Children's also operates the nation's largest primary pediatric care network, with more than 40 offices throughout the greater Houston community. Texas Children's has embarked on a $1.5 billion expansion, Vision 2010, which includes the Jan and Dan Duncan Neurological Research Institute, a comprehensive obstetrics facility focusing on high-risk births and a community hospital in suburban West Houston. For more information on Texas Children's Hospital, go to www.texaschildrens.org. Get the latest news from Texas Children’s Hospital by visiting the online newsroom and on Twitter at twitter.com/texaschildrens.
A great win for Rare Diseases in U.S. Senate Appropriation Bill
Read more in Adobe Acrobat(.pdf)Insurance Reforms begin in September...Or do they?
The White House and Congress have emphasized that, while some aspects of the new health care reform law will take up to four years to implement, others—including elimination of lifetime insurance caps—will take effect this year. On April 1, President Obama said that it “ will take about four years to implement this entire plan, because we’ve got to do it responsibly, we need to get it right. But there’s also a set of reforms that will take effect this year. So I just want to…I want everybody to understand what’s going to happen this year….Tens of thousands of uninsured Americans with preexisting conditions, and parents whose children have a preexisting condition, will finally be able to purchase the coverage that they need. That happens this year….Here’s what else happens: Insurance companies won’t be able to drop people’s coverage when they get sick; or place lifetime limits or restrictive annual limits on the amount of care they can receive.”
Visitors to the White House Health Reform website’s Frequently Asked Questions page may read the following in response to the question, “What consumer protections will I get this year?”
“Beginning in September 2010, insurers will be prohibited from placing lifetime limits on what they will pay for your medical care, and they can only apply restricted annual benefit limits. Insurers will no longer be able to arbitrarily cancel your insurance policy when you get sick, except in cases of fraud. Insurance companies will be prohibited from denying coverage to children with pre-existing conditions. This applies to all new and existing employer plans.”
However, the effective date for these “immediate” reforms, found on page 22 of the 906-page bill, is ambiguous and leaves room for interpretation that could push back the implementation date for many Americans.
NORD and other members of the Raise the Caps Coalition want to be sure these aspects of health care reform are implemented as promised and are concerned that some insurers may be interpreting the language differently regarding the implementation date. For that reason, NORD and more than 90 other patient groups, including many NORD Member Organizations, sent a letter to Health and Human Services Secretary Kathleen Sebelius on May 7, urging her to clarify that the reforms identified by the White House and Congress as immediate will be implemented in September. Read the letter to Kathleen Sebelius.
Reprinted with permission of NORD.
New Educational Resources on Law Against Genetic Discrimination
WASHINGTON, DC – June 3, 2010 – With genetic testing becoming increasingly pervasive in medical care and our daily lives, three of the most prominent organizations in genetics—the Genetics and Public Policy Center at Johns Hopkins University, the National Coalition for Health Professional Education in Genetics, and Genetic Alliance—have teamed up to produce educational materials about the Genetic Information Nondiscrimination Act (GINA), a landmark federal law that protects individuals from the misuse of genetic information in health insurance and employment.
Enacted in 2008 after 13 years of debate in Congress, GINA limits health insurers from using a person’s genetic information to set eligibility requirements, or establish premium or contribution amounts. The law also prohibits employers from using genetic information in decisions about hiring, firing, job assignments or promotions.
“Almost every day, our center is asked for more detailed information about what GINA means,” said Joan Scott, director of the Genetics and Public Policy Center. “These targeted materials will go a long way towards answering the questions that still exist, paving the way for successful, long-term implementation of this important law.”
The user-friendly materials will help health-care providers and members of the public understand their rights and responsibilities under the law and provide essential information about its details. The documents are also clear about what GINA doesn’t cover.
The public-oriented materials—including an interactive website, “GINA & You” information sheet, and slide set for advocacy organizations—are available, at http://www.GINAHelp.org, in the Genetic Alliance Resource Repository, and on Genetic Alliance’s website, http://www.geneticalliance.org. The website also includes a history of GINA’s long struggle and passage.
“The public has waited a long time for these protections, and by providing this information as a resource we are helping individuals become informed consumers of genetic services,” said Sharon Terry, president and CEO of Genetic Alliance.
The materials for health-care providers include background documents, a discussion guide suggesting how and when to talk about GINA with patients, a teaching slide set, and case studies that describe how the law works in a variety of real-world, clinical settings. These materials are available on the website for the National Coalition for Health Professional Education in Genetics (NCHPEG), at http://www.nchpeg.org.
“We’ve heard many questions already from health-care providers about the specifics of GINA,” said Joseph McInerney, NCHPEG’s executive director. “Especially as genetic testing becomes more common and the value of family history more apparent, there’s a real need for these materials to reassure providers and patients alike that GINA supports excellent clinical care.”
The Genetics and Public Policy Center (GPPC), part of the Johns Hopkins Berman Institute of Bioethics, will have all of the materials on its website, at http://www.dnapolicy.org. The GPPC’s site also includes FAQs and other fact sheets about GINA aimed at a general audience.
Development of the materials was supported by a grant from The Pew Charitable Trusts.
Additional information:
Genetic Alliance: http://www.geneticalliance.org
Genetic Alliance is a national, nonprofit health advocacy organization based in Washington, DC committed to transforming health through genetics and promoting an environment of openness centered on the health of individuals, families, and communities. When GINA was signed into law, the Alliance chaired the Coalition for Genetic Fairness, a multi-stakeholder coalition of over 500 organizations committed to passing federal genetic nondiscrimination legislation.
National Coalition for Health Professional Education in Genetics: http://www.nchpeg.org
NCHPEG is a Maryland-based nonprofit organization whose mission is to promote genetics education for all health professionals. NCHPEG’s membership represents a broad range of professional societies, advocacy groups, corporate entities, and government agencies dedicated to the integration of genetically based health care into mainstream practice.
Genetics and Public Policy Center: http://www.dnapolicy.org
The Genetics and Public Policy Center in the Berman Institute of Bioethics at Johns Hopkins University was created to help policymakers, the press, and the public understand and respond to the challenges and opportunities of genetic medicine and it potential to transform global public health.
About Genetic Alliance
Genetic Alliance transforms health through genetics, promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance brings together diverse stakeholders that create novel partnerships in advocacy; integrates individual, family, and community perspectives to improve health systems; and revolutionizes access to information to enable translation of research into services and individualized decision making. For more information about Genetic Alliance, visit http://www.geneticalliance.org.
Iowa researchers working on Batten Disease
By the end of the year researchers at the University of Iowa will likely be one step closer to treating a very rare disorder called Batten Disease. It's an inherited disease that affects children. There's no cure and it's always fatal. Encouraging studies are bringing hope to families throughout the country and, in particular, to a family in Waterloo. Listen to the radio interview in the link below.
Read more online (off-site link) What a difference a Gene makes
Human beings have about 40,000 genes. Hard as it is to believe, sometimes a defect in a single gene can lead to devastating consequences. This is the case of a rare childhood genetic disorder known as Batten Disease, which currently has no treatment and is inevitably fatal. But researchers are making breakthroughs in the understanding of Batten Disease, finding knowledge that may someday lead to treatments and cures...
Read full article at the below link
Leena Peltonen
StemCells, Inc. Plans to Advance to Second Clinical Trial in Batten Disease
"Our first NCL trial was focused primarily on safety, and our data showed that the cells, the immunosuppression regimen and the procedure were all well tolerated," stated Stephen Huhn, MD, FACS, FAAP, Vice President and Head of the CNS program at StemCells, Inc. "This positive safety profile encourages us to advance our clinical program in NCL, and this second trial will place an increased emphasis on the measurement of clinical benefit. We have shown that our HuCNS-SC cells produce the enzyme missing in NCL, so our strategy is to transplant our cells and have them provide enough enzyme to keep the patient's own neurons intact and functioning. We believe that demonstrating benefit will depend on how many neurons are alive at the time of the transplant, so unlike our first trial, which enrolled patients with few neurons left to protect, this second trial is designed to enroll patients who have less neuronal degeneration and cognitive impairment."
The proposed new trial is designed to further assess the safety of HuCNS-SC cells in NCL, while also examining the ability of the cells to affect the progression of the disease. The Company plans to enroll six patients with infantile and late infantile NCL. Because intervention prior to the final stages of the disease will likely be key to providing a therapeutic benefit, the Company plans to enroll patients with less brain atrophy than those enrolled in its first trial. Under the proposed protocol, all patients would be transplanted with HuCNS-SC cells and immunosuppressed for nine months. The patients would also be evaluated and assessed at regular intervals over the course of 12 months following transplantation. As the Company intends to follow the effects of this therapy long-term, a separate four-year observational study would be initiated at the conclusion of this trial. Upon FDA authorization of the trial protocol, the Company will proceed with site selection and seek the necessary Institutional Review Board approval to initiate the trial.
About Neuronal Ceroid Lipofuscinosis (Batten Disease)
Neuronal ceroid lipofuscinosis (NCL) is a fatal neurodegenerative disorder that afflicts infants and young children. The disorder, often referred to as Batten disease, is caused by genetic mutations, and children who inherit the defective gene are unable to produce enough of an enzyme that processes cellular waste substances that accumulate in a part of cells known as the lysosome. Without the enzyme, the cellular waste builds up, and eventually the cells cannot function and die. Children with NCL appear healthy when born, but as their brain cells die, they begin to suffer seizures and progressively lose motor skills, sight and mental capacity. Eventually, they become blind, bedridden and unable to communicate or function independently. There currently is no effective treatment for the disease. The infantile and late infantile forms of NCL are caused by different genetic mutations. As the names imply, the two forms begin to afflict patients at different stages of infancy, but both have similar disease progression and outcomes.
About HuCNS-SC Cells
StemCells' lead product candidate, HuCNS-SC cells, is a highly purified composition of human neural stem cells that are expanded and stored as banks of cells. The Company's preclinical research has shown that HuCNS-SC cells can be directly transplanted in the central nervous system. The transplanted cells are able to engraft, migrate, differentiate into neurons and glial cells, and possess the ability to survive for as long as one year with no sign of tumor formation or adverse effects. These findings show that HuCNS-SC cells, when transplanted, behave like normal stem cells, suggesting the possibility of a continual replenishment of normal human neural cells.
In addition to its clinical development of HuCNS-SC cells in NCL, the Company is currently conducting a Phase I trial using these cells as a potential treatment for Pelizaeus-Merzbacher Disease ( PMD), a fatal myelination disorder in children. HuCNS-SC cells are also in preclinical development for other central nervous system disorders, including retinal degenerative diseases, such as age-related macular degeneration and retinitis pigmentosa, and spinal cord injury.
About StemCells, Inc.
StemCells, Inc. is engaged in the research, development, and commercialization of stem cell therapeutics and enabling technologies for use in stem cell-based research and drug discovery. In its cellular medicine programs, StemCells is targeting diseases of the central nervous system and liver. StemCells' lead product candidate, HuCNS-SC cells (purified human neural stem cells), is in clinical development for the treatment of two fatal neurodegenerative disorders that primarily affect young children. StemCells also markets specialty cell culture products under the SC Proven - brand, and is developing stem cell-based assay platforms for use in pharmaceutical research, drug discovery and development. The Company has exclusive rights to approximately 55 issued or allowed U.S. patents and over 200 granted or allowed non-U.S. patents. Further information about StemCells is available at www.stemcellsinc.com.
Apart from statements of historical fact, the text of this press release constitutes forward-looking statements within the meaning of the Securities Act of 1933, as amended, and the Securities Exchange Act of 1934, as amended, and is subject to the safe harbors created therein. These statements include, but are not limited to, statements regarding the success of the Phase I clinical trial in NCL, the safety and tolerability of the HuCNS-SC cells, the surgical procedure and the immunosuppression, the Company's plans to pursue future clinical development of HuCNS-SC cells as a potential treatment for infantile and late infantile NCL, the potential for HuCNS-SC cells to produce the missing enzyme in NCL and keep the patient's own neurons intact and functioning, the potential for the Company's therapies to treat NCL and other neurodegenerative diseases, the future business operations of the Company, the prospects associated with conducting future clinical trials for NCL, the potential for its cell-based therapeutics to treat diseases or disorders, and its ability to conduct clinical trials as well as its research and product development efforts. These forward-looking statements speak only as of the date of this news release. The Company does not undertake to update any of these forward-looking statements to reflect events or circumstances that occur after the date hereof. Such statements reflect management's current views and are based on certain assumptions that may or may not ultimately prove valid. The Company's actual results may vary materially from those contemplated in such forward-looking statements due to risks and uncertainties to which the Company is subject, including the fact that additional trials will be required to confirm the safety and demonstrate the efficacy of the Company's HuCNS-SC cells for the treatment of NCL or any other disease; uncertainty as to whether the FDA or other applicable regulatory agencies will permit the Company to continue clinical testing in NCL, PMD or in future clinical trials of proposed therapies for other diseases or conditions given the novel and unproven nature of the Company's technologies; uncertainties about the design of this and other future clinical trials and whether the Company will receive the necessary support of a clinical trial site and its institutional review board to pursue this and other future clinical trials in NCL, PMD or in proposed therapies for other diseases or conditions; uncertainties regarding the Company's ability to commercialize a therapeutic product and its ability to successfully compete with other products on the market; uncertainties regarding the Company's ability to obtain the increased capital resources needed to continue its current and planned research and development operations, including such operations of the company for non-therapeutic applications, and to conduct the research, preclinical development and clinical trials necessary for regulatory approvals; uncertainty as to whether HuCNS-SC and any products that may be generated in the future in the Company's cell-based programs will prove safe and clinically effective and not cause tumors or other adverse side effects; uncertainties regarding the Company's manufacturing capabilities given its increasing preclinical and clinical commitments; and the increased risks associated with commercializing future cell-based therapeutics, including the potential for product liability claims; and other factors that are described under the heading "Risk Factors" disclosed in Part I, Item 1A in the Company's Annual Report on Form 10-K for the year ended December 31, 2009.
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CONTACT: StemCells, Inc.
Megan Meloni
650-475-3100, Ext. 105
irpr@stemcellsinc.com
or
Tim Brons
Vida Communication, Inc.
415-675-7402
SOURCE: StemCells, Inc.
2010 Request for Proposals
Read more in Microsoft Word(.doc)Social Security Adds 38 New Compassionate Allowance Conditions
"The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer's disease," Commissioner Astrue said. "The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years."
Compassionate Allowances are a way of quickly identifying diseases and other medical conditions that clearly qualify for Social Security and Supplemental Security Income disability benefits. It allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals. In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer's Association, the National Organization for Rare Disorders, and other groups.
"The diagnosis of Alzheimer's indicates significant cognitive impairment that interferes with daily living activities, including the ability to work," said Harry Johns, President and CEO of the Alzheimer's Association. "Now, individuals who are dealing with the enormous challenges of Alzheimer's won't also have to endure the financial and emotional toll of a long disability decision process."
"This truly innovative program will provide invaluable assistance and support to patients and families coping with severely disabling rare diseases," said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD). "On behalf of those patients and families, I want to thank Commissioner Astrue and his enthusiastic team for creating and now expanding a program that will have a direct impact on the quality of life of thousands of individuals."
"The initiative not only assists those whose applications are quickly processed, but also assists those whose applications need more time and attention from SSA adjudicators," said Marty Ford, Co-Chair, Social Security Task Force, Consortium for Citizens with Disabilities. "We are pleased to see today's expansion and look forward to working with Commissioner Astrue on further expansion of this decision-making tool and other ways to expedite determinations and decisions for disability claims."
"We will continue to hold hearings and look for other diseases and conditions that can be added to our list of Compassionate Allowances," Commissioner Astrue said. "There can be no higher priority than getting disability benefits quickly to those Americans with these severe and life-threatening conditions."
Social Security will begin electronically identifying these 38 new conditions March 1.
For more information about the agency's Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.
New Compassionate Allowance Conditions
1.Alstrom Syndrome
2.Amegakaryocytic Thrombocytopenia
3.Ataxia Spinocerebellar
4.Ataxia Telangiectasia
5.Batten Disease
6.Bilateral Retinoblastoma
7.Cri du Chat Syndrome
8.Degos Disease
9.Early-Onset Alzheimer's Disease
10.Edwards Syndrome
11.Fibrodysplasia Ossificans Progressiva
12.Fukuyama Congenital Muscular Dystrophy
13.Glutaric Acidemia Type II
14.Hemophagocytic Lymphohistiocytosis (HLH), Familial Type
15.Hurler Syndrome, Type IH
16.Hunter Syndrome, Type II
17.Idiopathic Pulmonary Fibrosis
18.Junctional Epidermolysis Bullosa, Lethal Type
19.Late Infantile Neuronal Ceroid Lipofuscinoses
20.Leigh's Disease
21.Maple Syrup Urine Disease
22.Merosin Deficient Congenital Muscular Dystrophy
23.Mixed Dementia
24.Mucosal Malignant Melanoma
25.Neonatal Adrenoleukodystrophy
26.Neuronal Ceroid Lipofuscinoses, Infantile Type
27.Niemann-Pick Type C
28.Patau Syndrome
29.Primary Progressive Aphasia
30.Progressive Multifocal Leukoencephalopathy
31.Sanfilippo Syndrome
32.Subacute Sclerosis Panencephalitis
33.Tay Sachs Disease
34.Thanatophoric Dysplasia, Type 1
35.Ullrich Congenital Muscular Dystrophy
36.Walker Warburg Syndrome
37.Wolman Disease
38.Zellweger Syndrome
SSA Press Office 440 Altmeyer Building 6401 Security Blvd. Baltimore, MD 21235 410-965-8904 FAX 410-966-9973
Four New Members Appointed to National Neurological Disorders and Stroke Advisory Council
"I am delighted to welcome these distinguished new appointees to the advisory council," said NINDS Director Story Landis, Ph.D. "They include a world-renowned stroke investigator and leader in thrombolytic therapy, a specialist in pediatric neurology and neonatal brain disorders, a neurologist and director of multi-disciplinary research in evidence-based treatment, and a long-time advocate for neurological research who helps families affected by serious diseases."
BDSRA Approves Juvenile Drug Trial Funding
The total cost of the trial is $1.1 million. The research team, under the direction of Dr. Frederick Marshall and Dr. Jonathan Mink, is working to raise the additional $700,000 required to begin the study. BDSRA will provide updated information as it becomes available.
First Human Embryonic Stem Cell Lines Approved for Use Under New NIH Guidelines
"I am happy to say that we now have human embryonic stem cell lines eligible for use by our research community under our new stem cell policy," Dr. Collins said. "In accordance with the guidelines, these stem cell lines were derived from embryos that were donated under ethically sound informed consent processes. More lines are under review now, and we anticipate continuing to expand this list of responsibly derived lines eligible for NIH funding."
StemCells, Inc. Provides Update on NCL Program
NIH Announces Expansion of Rare Diseases Clinical Research Network
The National Institutes of Health announced today a second phase of the Rare Diseases Clinical Research Network (RDCRN) including funds for 19 research consortia. The Rare Diseases Clinical Research Consortia and a Data Management Coordinating Center (DMCC) will be awarded a total of just over $117 million over the next five years. The research conducted with the new funding will explore the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease
The paper shows that distinct compartments of neurons (specifically the long fibre-like processes called axons and points of connection known as synapses) are particularly vulnerable in the NCLs. However, our understanding of how and why these parts of neurons break down during the early stage of the disease remains poor. We have shown that there are distinct protein changes which occur during the early stages of axonal and synaptic breakdown, providing a protein "fingerprint" of the process. We have also identified two specific proteins which may have the potential for use as biomarker proteins, reporting on the underlying status of axon and synapse pathology by examining their levels in easily-accessible tissues such as muscle. This study highlights the need for further research investigating ways of targeting and protecting axons and synapses in the NCLs and also provides a new approach to study and monitor axon and synapse pathology in living individuals without having to take samples of the nervous system.UI scientists use blood brain barrier as therapy delivery system
The blood brain barrier is generally considered an obstacle to delivering therapies from the bloodstream to the brain. However, University of Iowa researchers have discovered a way to turn the blood vessels surrounding brain cells into a production and delivery system for getting therapeutic molecules directly into brain cells. Please click on the files below to read the entire press release from the University of Iowa and the scientific research paper describing the scientific advancement from Dr. Beverly Davidson.
FDA Sets New Rules on Experimental Drugs
The U.S. Food and Drug Administration finalized new regulations Wednesday designed to provide broader access to experimental drugs for seriously ill people who have exhausted all other commercially available treatments. The new rules, which were posted on the FDA's Web site Wednesday, mostly clarify regulations explaining how patients can receive drugs in development outside of a clinical trial, and set standards for when drug companies or researchers can charge for the treatments.
StemCells, Inc. Demonstrates Protection Of Neurological Function In Batten Mouse
Kings College London Batten Disease Lab now on Twitter and Facebook
You can now follow Dr. Jon Cooper and his laboratory (Batten Disease/Pediatric Storage Disorders) on Twitter and Facebook. This is a great way to stay informed about what is happening in the lab and the latest research that Dr. Cooper is undertaking.To follow PSDL on Facebook, go to:
PSDL Facebook Page
To follow PSDL on Twitter, please go to:
Twitter.com/Batten_PSDL
2009 NCL Congress Meeting
The 12th International Congress on Neuronal Ceroid Lipofuscinoses (NCL) was held in Hamburg, Germany from June 3-6, 2009. The International Congress only meets once every 2 years. This meeting gives researchers an opportunity to gather and share their research findings on NCL with their colleagues and peers.The Abstract Summary Book is available for download. We have included it here in PDF format.
StemCells, Inc. Announces Positive Phase I Batten Trial Results
StemCells, Inc. (NASDAQ: STEM) announced today positive results from the first Phase I clinical trial of its proprietary HuCNS-SC product candidate (purified human neural stem cells), including demonstration of a favorable safety profile along with evidence of engraftment and long-term survival of the HuCNS-SC cells.
The stem cell transplant Phase I Safety Study in Oregon
Starting in 2006, doctors at Oregon Health & Science University opened the brains of six severely ill children and injected special stem cells derived from human fetuses, the first such surgery known.No dangerous side effects from stem cell treatment for brain disorder
The 2009 Request For Proposals are posted
THE DEADLINE FOR RFPs HAS BEEN EXTENDED TO MAY 23, 2009 AT 11:59PM EST.
There is a PDF version and a Microsoft Word version. BDSRA is committed to reviewing and helping fund advancements in the treatment and prevention of Batten disease.
Drug Trial for Juvenile Batten Disease
Rochester Receives $1.2 Million to Battle Rare Childhood Disease
A $1.2 million grant from the National Institutes of Health will bolster University of Rochester experts' research and care efforts for children suffering Batten disease, a rare neurological disorder that erupts without warning, stealing kids' sight, crippling their cognitive and motor capacities, and ultimately, taking their lives.The Ethics of Medical Research on Children
National Public Radio (NPR) News Story on Batten Disease
Hear the audio version w/interviews or read the Health & Science article which aired on Tuesday, June 20, 2006. In what may be an unprecedented collaboration, a rare and as yet incurable illness has brought together two unlikely communities: parents of children and owners of dogs. The two groups are linked by the fatal illness known as Batten disease.