by | Oct 22, 2019 | Ory, Daniel
— Background
Niemann-Pick type C is a rare, progressive neurodegenerative disease characterized by accumulation of cholesterol and other lipids in the viscera and central nervous system. For cases caused by mutations in the NPC1 or NPC2 gene, egress of lipids from endosomes or lysosomes are impaired, resulting in clinical symptoms such as abnormal eye movements, hearing loss, cerebellar ataxia, difficulty swallowing, and cognitive impairment. However, patients with Neimann-Pick disease have highly variable clinical presentation and symptom progression, making diagnosis challenging.
Technology Summary
A panel of oxygenated forms of cholesterol (oxysterols) in plasma that can be used as a diagnostic test for Neimann-Pick type C1 disease. The mass spectrometry-based panel is able to discriminate between subjects with NPC1 and normal control subjects. The oxysterol biomarkers have clinical utility in newborn screening for early diagnosis of NP1C disease, as markers for disease severity, and as biomarkers to aid in evaluation of new therapies for NPC1.
Key Advantages
High sensitivity
Rapid diagnostic for screening infants
Patents
US 8,497,122 Issued
US 9,012,216 Issued
Publications
Porter et al., 2010 – Cholesterol oxidation products are sensitive and specific blood-based biomarkers for NPC1 disease.
by | Oct 22, 2019 | Dhavale, Dhruva, Kotzbauer, Paul, Tu, Zhude "Will", Yue, Xuyi
— Technology Description
A team of researchers at Washington University have developed and optimized highly potent PET imaging probes which are specific for the misfolded protein that is the hallmark of Parkinson’s disease and related disorders. This family of molecules was designed based on s…
by | Oct 22, 2019 | Mennerick, Steven, Sun, Min-Yu, Taylor, Amanda, Zorumski, Charles
— Disease indication – neuroprotection in stroke/ischemia with potential for treating other neurodegenerative diseases
Drug format – neurosteroid
Drug class – drug repurposing (25-hydroxycholesterol)
Research stage and Preliminary data:
In vitro – The inventors demonstrated…
by | Mar 10, 2018 | Anastasaki, Corina, Gutmann, David
— Background: Neurofibromatosis type 1 (NF1) is a common neurological condition affecting roughly 1 in every 2,500 individuals. NF1 is associated with a host of clinical presentations, including malignant tumors and cognitive defects ranging from attention deficits, mental retardation, and autism. The…
by | Mar 10, 2018 | Gong, Yong-feng, Hou, Jianghui
— Background: Brain tumors are the most lethal disease known to mankind with approximately 170,000 annual diagnoses and 13,000 deaths attributed to brain cancer. Glioblastoma, the most common and aggressive, has a median survival of approximately 18 months. Chemotherapeutic agents have been approved b…
