National Institute of Neurological Disorders and Stroke (NINDS) at NIH has awarded $229,560 to Collaborations Pharmaceuticals Inc of Raleigh, NC to initiate a project at Washington University (St. Louis, MO) aimed at developing an enzyme replacement therapy to treat infantile Batten disease, also known as CLN1. The company will partner with Batten disease researcher Jonathan Cooper, PhD, Professor of Pediatrics at Washington University School of Medicine.
This treatment approach, originally funded by Taylor’s Tale (an LDN-affiliated patient advocacy group) and NINDS, began in the lab of Sandra Hofmann, MD, PhD, at the University of Texas Southwestern (Dallas, TX). Supported by these funds, Dr. Hofmann and her research team performed extensive development of the protein as well as pre-clinical assessment. Taylor’s Tale, a 501(c)3 public charity based in Charlotte, NC, funded Dr. Hofmann’s work beginning in 2007.
Moving forward, Collaborations Pharmaceuticals Inc will further develop the PPT1 enzyme, setting the stage for future clinical studies of this potential treatment for CLN1. In 2017 Collaborations Pharmaceuticals Inc received Orphan Drug Designation from the FDA for this PPT1 enzyme.
Collaborations Pharmaceuticals Inc is led by CEO Sean Ekins, PhD, who is also the President, CEO, and co-founder of Phoenix Nest, Inc.
The Batten Disease Support & Research Association (BDSRA) has launched two new pilot programs: the Batten Family Help Fund and the Emerging Research Conference Travel Award. The Batten Family Help Fund is a small-grant program of up to $750 to be used for family emergencies helping children, young people or adults (and their immediate families or those who care for them) living with Batten disease in the United States. The financial support of caring donors, including the BDSRA 2018 Family Conference attendees in Nashville, made it possible for the BDSRA to create this new program. Use this online form to apply for this emergency grant.
The Emerging Research Conference Travel Award seeks to educate and motivate researchers new to the Batten disease field to pursue projects in Batten disease by helping to cover the costs of attending the International Conference on Neuronal Ceroid Lipofuscinoses in London, UK, September 12-16, 2018. At their annual family conference in Nashville which convened in July 2018, the BDSRA chose four recipients of this award.
Rare Disease Report® has published an interview with a parent of a young man who has Batten disease, who lives in Greece. This is a very worthwhile moderate-length article that allows the knowledgeable reader to compare the approach to, and care of neuronal ceroid lipofuscinoses patients between Greece and other places.
The 15th International Conference on NCL (neuronal ceroid lipofuscinosis, a.k.a. Batten disease) took place in Boston, Massachusetts on October 5-8, 2016. There are 3 valuable videos and 3 online articles available from this conference at NCL Conference Videos, presented courtesy of BioMarin Pharmaceutical Inc. and Rare Disease Report®. One of the online articles presents the results of the Batten Disease Parent Survey that was conducted during the annual Batten Disease Support and Research Association’s Family Conference in July 2016. These survey results were also presented at this 15th International Conference on NCL, and help clarify the parents’ perspective on their interactions with the professional medical and research community. Lysosomal Disease Network principal investigators Ronald Crystal, M.D. of Weill Cornell Medical College in New York, and Jonathan Mink, M.D., Ph.D. of the University of Rochester Medical Center in New York were among the many outstanding researchers who presented findings at this conference.
The NCL Foundation, a German research-oriented patient advocacy group, aims to help find a cure for neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease, which is a large lysosomal disease-group affecting humanity worldwide. This research Award of €50,000 is intended to support a postdoctoral fellowship for one year. The Foundation highly encourages junior scientists and clinical researchers worldwide to submit projects that hold promise to help halt, or find a cure for, Batten disease. They also encourage scientists to apply for this Award who work in disease areas outside NCL, but which are relevant to cell and molecular pathways of CLN3 dysfunction.
The deadline for submitting all required documents is October 31, 2016. For extremely detailed information and the downloadable application form (which must be used), please visit: NCL Research Award: Call for Proposals.