Gene Therapy for Niemann-Pick Disease Type C

Investigators at the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH) are seeking collaborators to further develop viral gene therapy to treat Niemann-Pick Disease Type C (NPC). NPC is a rare and fatal, autosomal recessive, neurodegenerative disease that can present in infants, children, or adults. Most patients with NPC have mutations in NPC1, a gene implicated in intracellular cholesterol trafficking, which results in intracellular accumulation of unesterified cholesterol in late edosomal/lysosomal structures and of glycosphingolipids, especially in neuronal tissue. Thus, NPC patients generally suffer from enlargement of liver and spleen and neurological degeneration.

NHGRI investigators have generated adeno-associated (AAV) constructs that are able to correct cellular defects of certain cholesterol diseases or disorders, such as NPC, in vivo. These therapeutic constructs include human NPC1 sequence under control of a constitutive promoter elongation factor 1 alpha (EF1alpha) or a neuronal-specific promoter calcium/calmodulin-dependent protein kinase II (CamKII). The constructs were able to significantly increase survival and weight of the NPC mouse model (Npc knockout).

Potential Commercial Applications: Competitive Advantages:
Results of the construct experiments in mice demonstrate pre-clinical efficacy of AAV gene therapy as a therapeutic approach to NPC. Proven in vivo efficacy

Related Invention(s):


William Pavan (NHGRI)  ➽ more inventions...

Charles Venditti (NHGRI)  ➽ more inventions...

Randy Chandler (NHGRI)  ➽ more inventions...

Intellectual Property:
US Pat: - issued -
PCT Application No. PCT/US2016/026524 filed on 2016-04-07
US Application No. 15/565,065 filed on 2017-10-06
US Application No. 17/033,166 filed on 2020-09-25
National phases also entered in Europe (allowed) and Canada

Chandler et al. Systemic AAV9 Gene Therapy Improves the Lifespan of Mice With Niemann-Pick Disease, Type C1 Hum Mol Genet 2017 Jan 1;26(1):52-64 DOI: 10.1093/hmg/ddw367

Licensing Contact:
Anna Solowiej,
Phone: 301-435-7791

OTT Reference No: E-185-2014-0
Updated: Sep 28, 2020