Thank you all for contributing. A special thank you to Dr. Kathrin Meyer and her lab together with Dr. Emily de los Reyes at Nationwide Childrens Hospital in Columbus Ohio, to Gordon Gray, to Dr. Jill Weimer and Dr. David Pearce at Sanford Health in Sioux Falls, South Dakota, and to Dr. Brian Kaspar.
For more information about the clinical trial, click the link below.
“Our son was born in May 2009. He grew and developed like children do. He loves sports, everything from football, hockey, tennis to running and judo. He loves to compete and is really competitive. He is through and through a wonderful happy kid who is curious about life. But in the beginning of 2016, a few months before his seventh birthday, he was after a normal eye examination, diagnosed with Juvenile Batten Disease. A shock of lightning from a clear sky.
The diagnosing neurologist explained that this neurodegenerative brain disease was rare and would leave him blind, immobile, cognitively impaired, and, ultimately lead to premature death. Children with this diagnosis usually live into their late teens or early twenties. Today, there is no cure. The knowledge about the future he and the rest of the family are facing is incredibly hard to deal with.”
This is just one family story. Every year 2-3 children in Sweden and many more across the world get diagnosed with this terrible disease.
It has become our mission and our responsibility to speak on behalf of these children who haven´t the ability to do it themselves. We started this foundation July 2016. Our goal is to support a successful American research team to take gene therapy for Juvenile Batten disease to clinical trials. This project is estimated to cost about $2 million. This can save not only our son but also other children suffering from this terrible disease. Without private donations, this disease is far too rare to achieve effective research.
Race against time – it is happening now! Through our work, we have created a real hope for a treatment, and we thank our Foundation’s commitment to help finance this project. Since the summer of 2016 we are in full swing and plan to continue our efforts. However, we must humbly ask for your help. We realize this is a lot of money but it means not only a hope for our son but a future for other families affected by Batten´s Disease.
The foundation is very much in need of private donations. We also hope for corporate donations and support from other foundations (although Swedish foundations often do not support non domestic research). We are so grateful for all donations, large and small ones, and with your support we will reach our goal.
Founders, Fight Batten Disease Foundation
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Gene therapy is simply to replace a mutated gene with a healthy one. It has successfully been used in other diseases, and the researchers believe that this can also be done in Juvenile Batten Disease CLN3.
A breakthrough in the research on Batten Disease took place in March, 2016. A clinical trial of a the CLN6 form of Batten Disease was conducted in the United States. The first three children were treated before summer of 2016 and more children will be enrolled. Read more about this breakthrough here.
We have assembled a team of scientists and physicians to develop gene therapy treatment for the juvenile form (CLN3) of this disease. Because of the clinical trials in CLN6, we now know how to do this, and more importantly, how to do it quickly.
President of research Sanford Health, senior scientist Children’s Health Research Center, Professor for the Department of Pediatrics, Sanford school of Medicine of the South Dakota University
Director and Scientist in the Children’s Health Research Center, Associate professor for the Department of Pediatrics at the Sanford School of Medicine at the University of South Dakota.
Bachelor of Science and doctorate in neuroscience at the University of Rochester, Rochester, NY, Postdoctoral fellowship in The Neuroscience Center at the University of North Carolina, Chapel Hill.
Principal investigator in The Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital and Associate professor in the Department of Pediatrics.
Department of Neuroscience at the Ohio State University Collage of Medicine. In 2013, Dr. Kaspar was named Fellow of the American Association for the Advancement of Science (AAAS).
Dr. Meyer’s lab focuses on studying disease mechanisms in neurodegenerative diseases and finding new innovative therapeutic strategies for them.
A main emphasis is understanding the impact of different mutations on disease course and severity. Moreover, Dr. Meyer’s lab has a strong translational focus in her projects with the goal to move additional programs towards clinical trials. These projects include the optimization of delivery strategies and evaluation of efficacy and targeting of various areas of the nervous system with gene therapy.
Famous Hollywood producer Gordon Gray came in early in the project. Gordon is the father of two girls, Charlotte and Gwenyth, both diagnosed with Batten Disease cln6.
It was Gordon and his wife Kristen who initiated and took cln6 gene therapy to clinical trials in record time. Their dedication and experience has paved the way for us in this project. We feel so blessed and thankful for Gordons continuing active support and involvement as an advisor in the Fight Batten Disease Foundation.
Professor of Pediatrics, David Geffen School of Medicine at UCLA.
Division of Medical Genetics, Harbor-UCLA Medical Center. Advisor to the Fight Batten Disease Foundation.
Dr. Cooper established his Pediatric Storage Disorders Laboratory (PDSL) in 2000 after his postdoc training at UCSF and Stanford. He is a leading international authority on the neuropathology of Batten disease or Neuronal Ceroid Lipofuscinosis (NCLs), and other lysosomal storage disorders. By characterizing mouse and larger animal models of NCL, and human cases, his lab has made several key discoveries in these disorders including the selective nature of neuron loss, and the importance of early glial activation in rather than the accumulation of storage material these disorders. More recently, his work has extended to the effects of disease outside the brain including the spinal cord, peripheral and autonomic nervous systems, and other organs including the heart.
Together with colleagues from around the world his lab is also involved in the pre-clinical testing of a range of therapeutic strategies including enzyme replacement, gene therapy, neural stem cell transplantation and small molecule drugs, several of which have reached clinical trials.
Attending neurologist at Drottning Silvias Barn-och ungdomssjukhus, Sahlgrenska Universitetssjukhuset, Gothenburg, Sweden.
Professor of Neuroscience at the Faculty of Medicine, Lund University, Sweden. Deniz Kirik research activities are a synthesis of mechanisms of repair in the brain with emphasis on neurodegenerative diseases, and in vivo imaging at the systems level.
Various research projects span from modeling neurodegenerative diseases using viral vectors to pre-clinical development of gene therapy strategies and brain imaging using high resolution PET and MR imaging and spectroscopy techniques. Dr. Kirik has published over 120 papers and received over 6500 citations to this date. He has been a key figure in the establishment of the Bioimaging Center at Lund University and presently acts as the co-director responsible for pre-clinical imaging platforms located at the Biomedical Center in Lund. He has previously received both junior and senior fellowship awards from the Swedish Research Council, the highly prestigious Research Award from the European Research Council (ERC) and very recently ERC’s new Proof-of-Concept Award. He has acted as associate / contributing editor for Experimental Neurology and European Journal of Neuroscience, and has been a board member and president for the Network of European CNS Transplantation and Repair.
Professor of Pediatric Neurology, Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.
Dr. John R. Ostergaard is the founder of Centre for Rare Diseases, Aarhus University Hospital back in 1996. Since, all patients in Denmark with Neuronal Ceroid Lipofuscinosis (NCL) have been allocated to the Centre and handled by John R. Ostergaard. He is also a member of the multidisciplinary nation-wide Danish Batten team, which gives lifelong support to persons with NCL and their families, and is a leading international authority on the clinical findings of NCL. His lab has made several key discoveries in the field of Juvenile NCL, including the presence of a progressive cardiac involvement with ventricular hypertrophy and a direct negative influence of sinus node automaticity, an increased occurrence of cataract and glaucoma, and a severe disturbance of the parasympathetic part of the autonomic nervous system.
Batten disease is a rare, fatal, inherited disorder of the nervous system that usually begins in childhood. The first symptom is usually progressive vision loss in previously healthy children followed by personality changes, behavioral problems and slow learning. Seizures can begin any time during the course of the disease and tend to worsen with age. Progressive loss of motor functions (movement and speech) start with clumsiness, stumbling and Parkinson-like symptoms; eventually, those affected become wheelchair-bound, develop psychiatric symptoms, are bedridden, and die prematurely.
While a worldwide incidence rate is difficult to confirm, individual studies in various countries suggest rates range from 0.5 – 8 per 100,000 live births, with an average of 1.2. Evidence suggests that Juvenile Batten Disease is the most common form of pediatric neurodegenerative diseases. According to the Swedish National Board of Health and Welfare, about 2 to 3 new cases are reported every year in Sweden. Currently, there are about 30-40 people with this disease in Sweden. For some reason, the incidence seems more common in the nordic countries.
Juvenile Batten Disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs). Over 400 different errors (mutations) in 14 segments of DNA (genes) have been attributed to various forms of NCL, which differ from one another primarily by when symptoms first appear. These disorders all affect the nervous system with increasing seizures, movement disorders, altered thought processes, and cognitive decline. Childhood NCLs also include vision loss but adult onset NCLs typically do not. Although Batten disease was originally used to describe only the juvenile form of NCL (or juvenile Batten disease), the term “Batten disease” is widely used in the US and UK to refer to all forms of NCL.
The first noticeable sign of juvenile Batten disease is often loss of vision, which begins between the ages of 5-10 in previously healthy children and tends to worsen rapidly. Other early signs are more subtle and include personality changes, behavioural problems, and slowed learning. Recurrent seizures typically begin around age 9 and motor problems appear in the early to late teenage years.
At first, children may stumble or shuffle, followed by Parkinson-like symptoms followed by a complete decline in mobility. Sleep and psychiatric conditions may appear at any time during the course of the disease. Eventually, when the children are unable to eat, a PEG tube is used in order to receive adequate nutrition and to prevent them from respiratory problems that develop when food or fluids accidentally get into the lungs.
Some affected teenagers and young adults have cardiac problems that require pacemakers. Eventually, young adults become blind, bedridden, and physically and mentally incapacitated, requiring 24-hour care until premature death usually in their late teens or early twenties. Today, there is no cure.