Raleigh, North Carolina – National Institute of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health has awarded $229,560 to Collaborations Pharmaceuticals, Inc. (CPI) to initiate a project at Washington University in St. Louis aimed at developing an enzyme replacement therapy to treat a devastating childhood neurological disorder known as infantile neuronal ceroid lipofuscinosis (infantile Batten disease, or CLN1). The company will partner with noted Batten disease researcher Jonathan Cooper, PhD, a professor of pediatrics at Washington University School of Medicine.
This treatment approach, originally funded by Taylor’s Tale and NINDS, began in the lab of Sandra Hofmann, MD, PhD, at the University of Texas Southwestern in Dallas. Using these funds, Dr. Hofmann performed extensive development of the protein and preclinical assessment.
Moving forward, CPI will further develop the PPT1 enzyme that is critical for CLN1 patients, setting the stage for future clinical studies and the development of a potential treatment. CPI received Orphan Drug Designation from the Food and Drug Administration for this approach in 2017.
“The concept of finding rare disease projects like this that were ready for translation originally prompted me to found CPI in 2016,” said Sean Ekins, PhD, chief executive officer of CPI. “It epitomizes our goal to see treatments for ultra-rare diseases that have been developed in academia continue across the valley of death with the support of small business funding from the NIH-NINDS. This funding also provides a catalyst to pursue critical studies that could indicate commercial viability of the enzyme replacement therapy. We look forward to working with Professor Jonathan Cooper and his team to further develop this potential treatment.”
Taylor’s Tale, a 501(c)3 public charity based in Charlotte, North Carolina, funded Dr. Hofmann’s work beginning in 2007 and has continued to make an impact on the treatment landscape for CLN1.
“This significant step forward means a great deal for families living with the disease, and we are happy to see the continuation of work we supported from the beginning,” said Sharon King, president of Taylor’s Tale.
The Batten Disease Support and Research Association (BDSRA), North America’s largest support and research association dedicated to Batten disease, has funded and advocated for treatments and family support services since its founding in 1987.
“We are excited to see another company helping to develop treatments for Batten disease,” said Executive Director Margie Frazier, PhD. “We recognize the challenges during this process and the opportunities that would come with a treatment, just as we have seen with the recent approval of an enzyme replacement therapy, Brineura by BioMarin, for another form of the disease.”
“We are very grateful to NIH-NINDS for their willingness to fund a treatment for an ultra-rare disease and for the encouragement and support of Taylor’s Tale and BDSRA,” Ekins said. “Our vision is to collaborate with leading academic groups and foundations to develop treatments for rare diseases like this and, in the meantime, industrialize the process.”
About Batten Disease
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases (LSDs) with a prevalence of approximately 1.5 to nine per million population. The infantile onset form termed CLN1 is characterized by progressive intellectual and motor deterioration, seizures, loss of vision and early death. Symptoms are caused by mutations in the CLN1 gene, which codes for the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1). CLN1 disease usually presents between six and 24 months of age. Each year, two to three children with this form are identified.
BDSRA is dedicated to funding research for treatments and cures, providing family support services, advancing education, raising awareness, and advocating for legislative action. Founded in 1987, by parents seeking to build a network for those diagnosed with Batten disease, BDSRA is now the largest support and research organization dedicated to Batten disease in North America. BDSRA believes that to effectively unravel the mysteries of Batten disease, the worlds of medical science, research, and families must work together toward a common goal: discover treatments and cures while assuring a better quality of life for those living with the disease. https://bdsra.org/
About Taylor’s Tale
Taylor’s Tale is a leader in the fight against infantile Batten disease and other rare diseases. Founded in honor of Charlotte’s Taylor King, Taylor’s Tale raises funds for research, drives public awareness and serves as an advocate for the rare disease community, which includes approximately 25 million Americans and 350 million people worldwide. The public charity has contributed to promising research that will help lead to treatments for Batten disease and other rare diseases. Taylor’s Tale also inspired North Carolina HB 823 (now Taylor’s Law), which in 2015 established the nation’s first Rare Disease Advisory Council at the University of North Carolina School of Medicine and has sparked progress in other states across the nation. Nationally, Taylor’s Tale partners with organizations like Global Genes and the EveryLife Foundation for Rare Disease and has helped advance important federal legislation in the fight against rare disease. For more information: www.taylorstale.org.
About Collaborations Pharmaceuticals, Inc.
Collaborations Pharmaceuticals, Inc. performs research and development on innovative therapeutics for multiple rare and infectious diseases. We partner with academics or companies to identify and translate early preclinical to clinical stage assets. We have considerable experience of preclinical and computational approaches to drug discovery and toxicity prediction. For more information, please visit http://www.collaborationspharma.com/
For further information, please contact:
Contact information Washington University School of Medicine in St. Louis
Judy Martin Finch, director of media relations
Contact information BDSRA
Batten Disease Support and Research Association
2780 Airport Drive, Suite 342
Columbus, Ohio 43219
Toll-Free: (800) 448-4570
Fax: (866) 648-8718
Contact information About Taylor’s Tale
Laura King Edwards
Co-Founder and Vice President, Taylor’s Tale
Contact information CPI
Sean Ekins, Ph.D., D.Sc.
CEO and Founder,
Collaborations Pharmaceuticals, Inc.
840 Main Campus Drive, Lab 3510,
Raleigh, NC 27606