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A Phase II SBIR awarded to Collaborations Pharmaceuticals, Inc. by the National Institutes of Health / National Institute of Neurological Disorders and Stroke.

While we realize we still have a long way to go, we hope that on International Batten Disease Day, our news will bring some hope to families waiting for treatment for CLN1.

— Dr. Sean Ekins, CEO, CPI

RALEIGH, NORTH CAROLINA, USA, June 9, 2022 / — We are delighted to receive this Phase II SBIR grant for the “Manufacture of Intracerebroventricular Enzyme Replacement Therapy for CLN1 Batten Disease said Collaborations Pharmaceuticals, Inc. (CPI) CEO Dr. Sean Ekins.

Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable neurodegenerative storage disorders primarily affecting the brain and retina of children and young adults, resulting in dementia, blindness, epilepsy and early death. There are currently no treatments available (other than palliative therapies) for this fatal disease.

With substantial funding from NINDS with academic collaborators, we were able to demonstrate how monthly intracerebroventricular administration of human PPT1 produced statistically significant treatment effects in palmitoyl-protein thioesterase-1 (PPT1) enzyme-deficient mice (Ppt1- /-), such as rescue of PPT1 enzyme activity, decreased secondary enzyme levels, decreased neuron loss in all regions of the brain and spinal cord, and improved gait and rotarod outcomes. We were also supported by NINDS to participate in the NIH I-Corps which provided valuable experience in commercialization. In addition, a diversity supplement has also helped us to hire staff and continue our work on this disease.

“We now propose in this phase II SBIR to manufacture recombinant human PPT1 and to carry out toxicology studies allowing IND. This work marks key milestones in the further development of this essential enzyme replacement therapy (ERT) for CLN1 patients, paving the way for future clinical studies and potential treatment development. CPI already holds orphan drug and rare disease designations from the Food and Drug Administration for this approach. This project meets our goal of pursuing treatments for ultra-rare diseases and this new funding will catalyze the development of this ERT. We are now well positioned to pursue the development of this potential treatment for a devastating disease in children. We welcome discussions with other rare disease societies and potential partners to help bring this to families and children awaiting treatment.”

This grant was awarded on the same day as International Batten Awareness Day, which aims to honor and support all those affected by Batten disease and raise awareness around the world.

About Batten Disease
The infantile form of CLN1 disease is caused by mutations in the CLN1/PPT1 gene, which codes for the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1) resulting in reduced or absent enzyme activity. CLN1 disease typically presents between 6 and 24 months of age and there are 2-3 children with this form identified each year and there are over 20 known children with CLN1 in the United States and 11 in Brazil (with likely many more not diagnosed worldwide).

About Collaborations Pharmaceuticals, Inc.
Collaborations Pharmaceuticals, Inc.® (CPI) performs research and development on innovative therapies and has a preclinical pipeline of treatments for rare and neglected diseases. Additionally, CPI has developed data curation and machine learning software called Assay Central.® ( as well as model sets organized in MegaTox®MegaTrans® and MegaPredict®. More recently, we have developed generative software called MegaSyn and UV-adVISor to predict UV-Vis spectra of small molecules. CPI is located in the NC State Incubator Laboratories on Centennial Campus. We have considerable experience in preclinical and computational approaches to drug discovery and toxicity prediction. For more information, please visit

Sean Ekins
Collaborations Pharmaceuticals, Inc.
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