Hope 4 Bridget Family Foundation Sees the Power of Partnership in Research and Finding a Cure  

Kennicott Family Hope 4 BridgettBridget Kennicott was born on November 11, 2004, to proud parents Sara and Dave and big brother Harrison.  The Carpentersville, Illinois family felt complete, with their energetic little daughter soon known as “Miss Busy B.”   She barreled her way into her toddler years, until the family met their first medical puzzle in 2008.  With no warning , the Kennicotts faced the frightening experience of carrying their daughter to the emergency room with a seizure.  It would be 16 months of testing, consultations, medications, and questions before a diagnosis in April of 2009 could be definitive that Bridget had late infantile Batten disease (LINCL). According to Sara, “there is no preparation for devastating news like this.  We knew that our little girl struggled with health and development, this, however, was far beyond our imagination.” “Our journey with Bridget is to take one day at a time,” says Sara. “We realize our efforts to help find a treatment may be too late for Bridget, but we forge ahead to fight for other children like Bridget.” Through their shock, grief, disbelief and pain, the Kennicotts were determined to seek answers and find ways to bolster Batten disease research, which they discovered was underfunded and limited by being categorized as a rare disease.  
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BDSRA Funds Crucial Project to Expand a Batten Disease Patient Registry

BDSRA Funds Crucial Project to Expand a Batten Disease Patient RegistryOne of the most important steps toward finding effective medical treatments for Batten disease and advancing clinical research is to map out the ways in which the forms of the disease affect patients: the symptoms most commonly seen, how those symptoms progress, trends among and between genetic types, and what complications develop.  To achieve this means collecting as much data as possible about all patients throughout the world affected by the disease and assembling it in a single database. A patient registry database for Batten disease will describe for the first time the natural history and progression of the disease over a person’s lifespan and provide insights on new symptoms that might have been previously overlooked or unidentified. To prepare and advance clinical trials, a major priority for the Batten Disease Support and Research Association (BDSRA) in the past two years has been funding a project to expand a Batten patient registry.  
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StemCells, Inc. Announces Results of Long-Term Follow-Up Study in Batten Disease

StemCells, Inc. Announces Results of Long-Term Follow-Up Study in Batten DiseaseHuman Clinical Data Encompasses Five Years of Post-Transplant SafetyNEWARK, Calif., Oct. 21, 2013 (GLOBE NEWSWIRE) — StemCells, Inc.(Nasdaq:STEM) announced today the results of a four-year observation study in patients with neuronal ceroid lipofuscinosis (NCL), also referred to as Batten disease, who had been transplanted with the Company’s proprietary HuCNS-SC® cells (purified human neural stem cells) in the initial Phase I study. Key results include long-term evidence of safety, up to five years post transplantation, for the surgical transplantation of the HuCNS-SC cells into multiple sites in the brain and at doses of up to one billion cells. The study results represent the first, and thus far only, multi-year data set following transplantation of neural stem cells into human subjects, and supports the feasibility of the Company’s approach in multiple neurological disorders. The data will be presented today by Nathan Selden, MD, PhD, FACS, FAAP, who was co-principal investigator in the studies, at the Congressof Neurological Surgeons Annual Meeting in San Francisco, California.”The NCL study enrolled patients suffering from a severe progressive neurological disorder and the study’s outcome shows that there were no long-term safety or tolerability issues associated with the cells, the immunosuppression regimen or the surgical procedure over the five years following transplantation,” said Dr.
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Combination treatment in mice shows promise for fatal neurological disorder in kids

Combination treatment in mice shows promise for fatal neurological disorder in kidsBy Caroline Arbanas (March 15, 2012) Infants with Batten disease, a rare but fatal neurological disorder, appear healthy at birth. But within a few short years, the illness takes a heavy toll, leaving children blind, speechless and paralyzed. Most die by age 5. There are no effective treatments for the disease, which can also strike older children. And several therapeutic approaches, evaluated in mouse models and in young children, have produced disappointing results. But now, working in mice with the infantile form of Batten disease, scientists at Washington University School of Medicine in St. Louis and Kings College London have discovered dramatic improvements in life span and motor function by treating the animals with gene therapy and bone marrow transplants. Click here for full article: https://news.wustl.edu/news/Pages/23561.aspx
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Highlights from Biomarin’s Research & Development Day

Highlights from Biomarin’s Research & Development Day(Note:  Below is an excerpt from BioMarin Pharmaceutical Inc.’s Press Release of December 8, 2012. To read the full press release, go to http://phx.corporate-ir.net/phoenix.zhtml?c=106657&p=irol-newsArticle&ID=1637904&highlight.)  NOVATO, Calif., Dec. 8, 2011 /PRNewswire/ — BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) today hosted a Research and Development Day where members of the company’s management team and industry experts provided an update on BioMarin’s product portfolio and advancements in the research and development pipeline. “We believe 2011 has been a year of significant progress in both our late stage and early stage clinical development programs,” said Jean-Jacques Bienaime, Chief Executive Officer of BioMarin.  “This progress sets the stage for multiple data readouts in the coming year from key programs throughout our pipeline.  We believe these events will help move us forward in delivering more therapies that could make large impacts on the lives of patients suffering from several rare diseases.” Program Highlights: BMN-190 for Late infantile neuronal ceroid lipofuscinosis (LINCL) – Form of Batten Disease At R&D Day, BioMarin also announced a new clinical program, BMN-190 for LINCL, one form of Batten disease. 
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Development of a Carrier Screening Test

Development of a Carrier Screening TestA newly developed test could screen would-be parents for hundreds of different disease genes, to make sure they are not passed on to any future children. The test’s makers say it should cost less than $400 and that routinely offering it to prospective parents could someday eliminate many deadly childhood diseases. “We definitely want it to be pre-pregnancy. We do want it to be couples,” says Stephen Kingsmore, a physician-researcher at Children’s Mercy Hospital in Kansas City, Mo., who led the team that developed this new test. “I think it’s going to be a personal decision, whether a couple wants to be tested.” The inspiration for this new test came from Craig and Charlotte Benson, of Austin, Texas. In 2008, their daughter Christiane was diagnosed with Batten disease, a rare neurodegenerative disorder that currently has no cure. It progresses from vision loss to memory problems and seizures, and eventually death. “Both her mom and I carry a gene mutation, a single gene mutation,” explains Craig Benson.
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Mutations in DNAJC5

Mutations in DNAJC5Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by accumulation of autofluorescent storage material in neural tissues and neurodegeneration and has an age of onset in the third decade of life or later. The genetic and molecular basis of the disease has remained unknown for many years. We carried out linkage mapping, gene-expression analysis, exome sequencing, and candidate-gene sequencing in affected individuals from 20 families and/or individuals with simplex cases; we identified in five individuals one of two disease-causing mutations, c.346_348delCTC and c.344T>G, in DNAJC5 encoding cysteine-string protein alpha (CSPα). These mutations-causing a deletion, p.Leu116del, and an amino acid exchange, p.Leu115Arg, respectively-are located within the cysteine-string domain of the protein and affect both palmitoylation-dependent sorting and the amount of CSPα in neuronal cells. Read full abstract (off-site link)
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