7 results about "Tuberous sclerosis" patented technology

To provide Akt3 modulators and compounds and pharmaceutical compositions for treating diseases by modulation of Akt3 signaling.SOLUTION: A compound of Formula Ib or Ic, or a pharmaceutically acceptable salt thereof, and a pharmaceutical composition comprising said compound for treating a disease in a subject in need thereof, A pharmaceutical composition wherein the treatment comprises administering to a subject an effective amount of the compound; optionally wherein the disease is selected from the group consisting of neurodegenerative diseases, cachexia, eating disorders, obesity, complications of obesity, inflammatory diseases, virally-induced inflammatory reactions, Gulf War Syndrome, tuberous sclerosis, retinitis pigmentosa, graft rejection, cancer, autoimmune diseases, ischemic tissue injury, traumatic tissue injury and combinations thereof.SELECTED DRAWING: Figure 6

There is provided a method of treating nodular sclerosis (TSC) or epilepsy comprising administering to a subject a compound of Formula (I), (II), or (III): or a pharmaceutically acceptable salt thereof wherein X is halogen. Also provided is a composition for use in a method of treating TSC or epilepsy comprising administering to a subject in need thereof a composition comprising a compound of Formula (I), (II) or (III) as shown above.

The present invention relates to the use of cannabidiol (CBD) in the treatment of focal seizures. In one modality, patients suffering from focal seizures are children and young adults. CBD appears to be particularly effective in reducing focal seizures in patients with etiologies including Lennox-Gastaut syndrome; tuberous sclerosis complex; Dravet syndrome; CDKL5; neuronal ceroid lipofuscinosis (NCL); febrile infection-related epilepsy (FIRES) syndrome; Aicardi syndrome; and brain abnormalities, compared to other types of seizures. Significantly, CBD is also highly effective in reducing a subtype of focal seizures: focal seizures with deterioration.

The present disclosure relates to methods for treating haploinsufficiency neurodevelopmental disorders associated with genes selected from TSC1, TSC2, NSD1, KMT2D, KDM6A, CREBBP, EP300, KANSL1 and RAI1, comprising administration of dual orexin receptor antagonists (DORAs) and / or orexin receptor antagonists (ORAs). The present disclosure further provides methods for treating tuberous sclerosis complex (TSC) by administration of DORAs and / or selective histone deacetylase inhibitors.

The present invention relates to the use of cannabidiol (CBD) preparations for use in the treatment of seizures associated with tuberous sclerosis (TSC). [Solution] In particular, the present invention includes the step of administering everolimus in combination with a reduced dose of cannabidiol (CBD). In an alternative embodiment, the present invention relates to the treatment of seizures associated with tuberous sclerosis in everolimus-untreated patients currently treated with CBD. Preferably, the dose of everolimus is reduced by at least 10%.

Provided herein are engineered tuberous sclerosis complex 2 (TSC2) polypeptides in which the ability of a residue corresponding to a serine residue in a wild type TSC2 polypeptide to be phosphorylated is altered. In some cases, an engineered TSC2 polypeptide cannot be phosphorylated (e.g., by substituting a serine residue with an alanine residue). In some cases, an engineered TSC2 polypeptide can act as if it is constitutively phosphorylated (e.g., by substituting a serine residue with a glutamic acid residue). Also provided herein are engineered immune cells including altered TSC2 polypeptides or including nucleic acid sequences encoding altered TSC2 polypeptides, and methods of making and using such engineered immune cells.

The invention discloses a biomarker for auxiliary diagnosis or evaluation of epilepsy related to nodular sclerosis and application of the biomarker. The biomarker comprises any one or a combination of at least two of a complement component 7, N-acetylgalactosamine transferase 3, an ecological virus integration site 5, a hemoglobin subunit theta 1 or leukotriene A4 hydrolase. The invention provides a protein biomarker combination which is low in invasiveness and easy to quantify and can be used for preoperative evaluation, postoperative prognosis judgment and curative effect monitoring and a detection method thereof, and the accuracy and reliability of nodular sclerosis related epilepsy diagnosis and risk evaluation are remarkably improved.