Abstract: The disclosure relates to double-stranded ribonucleic acid (dsRNA) compositions targeting the DNAJB 1-PRKAC A fusion gene, and methods of using such dsRNA compositions to alter (e.g., inhibit) expression of DNAJB 1-PRKAC A fusion.

Abstract: The present invention relates to RNAi agents, e.g., double stranded RNA (dsRNA) agents, targeting the CPB2 gene. The invention also relates to methods of using such RNAi agents to inhibit expression of a CPB2 gene and to methods of preventing and treating a CPB2-associated disorder, e.g., a disorder associated with thrombosis.

Abstract: The present invention relates to RNAi agents, e.g., double stranded RNA (dsRNA) agents, targeting the SERPINF2 gene. The invention also relates to methods of using such RNAi agents to inhibit expression of a SERPINF2 gene and to methods of preventing and treating a SERPINF2-associated disorder, e.g., a disorder associated with thrombosis.

Abstract: The disclosure relates to double stranded ribonucleic acid (dsRNAi) agents and compositions targeting the APP gene, as well as methods of inhibiting expression of an APP gene and methods of treating subjects having an APP-associated disease or disorder, such as cerebral amyloid angiopathy (CAA) and early onset familial Alzheimer disease (EOFAD or eFAD), using such dsRNAi agents and compositions.

Abstract: The disclosure relates to double stranded ribonucleic acid (dsRNAi) agents and compositions targeting the APP gene, as well as methods of inhibiting expression of an APP gene and methods of treating subjects having an APP-associated disease or disorder, such as cerebral amyloid angiopathy (CAA) and early onset familial Alzheimer disease (EOFAD or eFAD), using such dsRNAi agents and compositions.

Abstract: The disclosure relates to double stranded ribonucleic acid (dsRNAi) agents and compositions targeting the APP gene, as well as methods of inhibiting expression of an APP gene and methods of treating subjects having an APP-associated disease or disorder, such as cerebral amyloid angiopathy (CAA) and early onset familial Alzheimer disease (EOFAD or eFAD), using such dsRNAi agents and compositions.

Abstract: The present invention provides, among other things, effective treatment for Sanfilippo Syndrome Type A (MPS IDA) based on intrathecal delivery of recombinant heparin N-Sulfatase (HNS) enzyme. In some embodiments, the present invention includes methods of treating Sanfilippo Syndrome Type A (MPS MA) Syndrome by intrathecal administration of a recombinant HNS enzyme at a therapeutically effective dose and an administration interval for a period sufficient to decrease glycosaminoglycan (GAG) heparan sulfate level in the cerebrospinal fluid (CSF) and/or urine relative to a control.

Abstract: The present invention provides biomarkers for efficient and accurate characterization of Sanfilippo syndrome. In particular, the present invention provides biomarkers differentially expressed in Sanfilippo syndrome. Those biomarkers, used alone or in combination, may permit more accurate robust characterization of Sanfilippo syndrome, resulting in more precise determination of the types and/or severity of the syndrome. In addition, inventive biomarkers according to the present invention can be used to effective monitor treatment response in Sanfilippo syndrome patients and/or to optimize treatment for Sanfilippo syndrome.

Abstract: The present invention provides, among other things, effective treatment for Sanfilippo Syndrome Type A (MPS IIIA) based on intrathecal delivery of recombinant heparin N-Sulfatase (HNS) enzyme. In some embodiments, the present invention includes methods of treating Sanfilippo Syndrome Type A (MPS IIIA) Syndrome by intrathecal administration of a recombinant HNS enzyme at a therapeutically effective dose and an administration interval for a period sufficient to decrease glycosaminoglycan (GAG) heparan sulfate level in the cerebrospinal fluid (CSF) and/or urine relative to a control.