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- Supporting Families Affected by Prion Disease
The status of prion disease drug development changes regularly. In July 2025, five organizations working toward a treatment for prion disease met with families and spoke on a panel at the CJD Foundation Family Conference in Chicago. Hear more about the information each of those organizations shared at the conference.
Learn about antisense oligonucleotide targeting of PRNP mRNA as a potential treatment for prion disease from this recording of the 2020 Virtual Conference Session presented by Anne Smith, PhD, Executive Director of Clinical Development at Ionis Pharmaceuticals, a California-based biotechnology company focused on RNA-targeting therapeutics.
Human prion diseases, including Creutzfeldt–Jakob disease (CJD), are rapidly progressive, invariably fatal neurodegenerative conditions with no effective therapies. Their pathogenesis involves the obligate recruitment of cellular prion protein (PrPC) into self-propagating multimeric assemblies or prions. Preclinical studies have firmly validated the targeting of PrPC as a therapeutic strategy. Read a study in The Lancet Neurology that evaluates a first-in-human treatment programme using an anti-PrPC monoclonal antibody under a Specials Licence.
Learn about Prion protein monoclonal antibody (PRN100) therapy for CJD from this recording of the 2022 Virtual Conference Session presented by Prof John Collinge, Professor of Neurology, MRC Prion Unit at UCL, UCL Institute of Prion Diseases.
Launched in Fall 2015, Prions@Broad represents an innovative new model for rare disease drug discovery. Sonia Vallabh and Eric Minikel changed careers to become scientists and devote their lives to prion therapeutics after learning, in December 2011, that Sonia had inherited a fatal genetic mutation in the prion protein gene from her late mother. In our unique model for precision medicine research, these two personally motivated patient-scientists with their disease-specific focus are embedded within a department and an institute equipped with the tools and expertise needed to enable therapeutic discovery.
Nobelpharma has constantly been aspiring to conduct research and development of drugs, that are not the prime targets for many pharmaceutical companies due to questionable economic viability with a small number of patients (drugs for unmet medical needs).
“We have completed several essential non-clinical studies and expect to initiate clinical studies very soon, probably next year.”
— Kiyoshi Arita, MSc, Project/Product Manager, Research and Development Division, International Clinical Development Department, Nobelpharma Co., Ltd., Tôkyô, Japan, speaking at CJD Foundation Family conference, July 2025
Learn about a potential future treatment for prion disease from this recording of the 2022 presentation by Brian Zeitler, Senior Director of Gene Regulation, Sangamo Therapeutics: “Engineered zinc finger protein transcription factors potently reduce brain PrP expression and extend survival in prion-infected mice”
Researchers evaluated a novel epigenetic regulation approach using Zinc Finger Repressors (ZFRs) to ablate PrP expression at the transcriptional level. When delivered using adeno-associated virus (AAV), ZFRs potently and specifically reduced prion mRNA expression by >95% in vitro and to near undetectable levels within single neurons in vivo. In wildtype mice, ZFRs stably lowered neuronal PrP expression throughout the central nervous system for at least 17 months. In mice inoculated with misfolded PrP, AAV-ZFRs given at either early or late disease stages profoundly extended lifespan, significantly reduced PrP in the brain, and improved an array of molecular, histological, biomarker, and behavioral readouts.
Learn about the process of clinical research and drug development and the role rare disease patient communities can play in the process from this recording of the 2022 Virtual Conference Session presented by Laura Iliescu, MSc, Director, Patient Advocacy Strategy, Center for Rare Diseases.