35 results about "Tuberous sclerosis" patented technology

The present disclosure relates to the use of cannabidiol (CBD) for the treatment of atonic seizures. In particular the CBD appears particularly effective in reducing atonic seizures in patients suffering with etiologies that include: Lennox-Gastaut Syndrome; Tuberous Sclerosis Complex; Dravet Syndrome; Doose Syndrome; Aicardi syndrome; CDKL5 and Dup15q in comparison to other seizure types. The disclosure further relates to the use of CBD in combination with one or more anti-epileptic drugs (AEDs).

The present disclosure relates to the use of cannabidiol (CBD) for the treatment of Tuberous Sclerosis Complex (TSC). In particular the TSC is treatment resistant and is characterised by generalised seizures or focal seizures with impairment. The disclosure further relates to the use of CBD in combination with one or more anti-epileptic drugs (AEDs).

The present disclosure relates to the use of cannabidiol (CBD) for the treatment of seizures in patients aged about 1-2 years old. In particular the CBD appears particularly effective in reducing seizures in patients suffering with etiologies that include: Lennox-Gastaut Syndrome; Tuberous Sclerosis Complex; Dravet Syndrome; Doose Syndrome; Aicardi syndrome; CDKL5 and Dun15q.

The present disclosure relates to the use of cannabidiol (CBD) for the treatment of atonic seizures. In particular the CBD appears particularly effective in reducing atonic seizures in patients suffering with etiologies that include: Lennox-Gastaut Syndrome; Tuberous Sclerosis Complex; Dravet Syndrome; Doose Syndrome; Aicardi syndrome; CDKL5 and Dup15q in comparison to other seizure types. The disclosure further relates to the use of CBD in combination with one or more anti-epileptic drugs (AEDs).

The present disclosure relates to the use of cannabidiol (CBD) in the treatment of absence seizures. In particular, the disclosure relates to the use of CBD for reducing absence seizures in patients suffering with etiologies that include: Lennox-Gastaut Syndrome; Tuberous Sclerosis Complex; Dravet Syndrome; Doose Syndrome; CDKL5; Dup15q;, Jeavons syndrome; Myoclonic Absence Epilepsy; Neuronal ceroid lipofuscinoses (NCL) and brain abnormalities. The disclosure further relates to the use of CBD in combination with one or more anti-epileptic drugs (AEDs).

The present disclosure relates to the use of cannabidiol (CBD) for the treatment of atonic seizures. In particular the CBD appears particularly effective in reducing atonic seizures in patients suffering with etiologies that include: Lennox-Gastaut Syndrome; Tuberous Sclerosis Complex; Dravet Syndrome; Doose Syndrome; Aicardi syndrome; CDKL5 and Dup15q in comparison to other seizure types. The disclosure further relates to the use of CBD in combination with one or more anti-epileptic drugs (AEDs).

A method of producing a rapamycin-containing composition for treating skin disease, which comprises the steps of dissolving rapamycin in an ethanol-containing solvent, adding a gelling and / or thickening agent to the resulting rapamycin-containing solution, and adjusting the pH of the resulting rapamycin-containing composition to 5.5 to 6.1 with triethanolamine or tris(hydroxymethyl)aminomethane (TRIS) is provided. A method of inhibiting degradation of rapamycin in a rapamycin-containing composition for treating skin diseases, wherein the method comprises the step of adjusting the pH of the composition to 5.5 to 6.1 with triethanolamine or tris(hydroxymethyl)aminomethane is also provided. A rapamycin-containing composition for treating skin diseases comprising (i) rapamycin, (ii) carboxylic acid-containing aqueous polymer, and (iii) at least one pH adjuster selected from triethanolamine and tri(hydroxymethyl)aminomethane, having a pH of 5.5 to 6.1 is also provided. The carboxylic acid-containing polymer may be carboxy vinyl polymer (carbomer), carboxymethyl cellulose or carboxyethyl cellulose. The skin disease may be dermatitis, contact dermatitis, psoriasis, atopic dermatitis, seborrheic dermatitis, nummular eczema, vitiligo, keloids, autosensitised dermatitis, stasis dermatitis, sebaceous deficiency eczema, skin tumours of tuberous sclerosis, and skin tumours of Recklinghausen’s disease. Preferred topical gels comprise rapamycin, carboxy vinyl polymer (carbomer), ethanol, water and either triethanolamine or tris(hydroxymethyl)aminomethane.

The present disclosure relates to fluorinated phenylamino compounds, pharmaceutical compositions thereof, and methods of treating a tumor or cancer selected from the group consisting of plexiform neurofibroma (PN), plexiform neurofibroma associated with neurofibromatosis type 1 (NF1-PN), cutaneous neurofibroma (cNF), pancreatic ductal adenocarcinoma (PDAC), high-grade glioma (HGG), low-grade ovarian cancer, tuberous sclerosis (TSC), Langerhans cell histiocytosis (LCH), brain tumor, and cancer metastasized to the brain of a patient, comprising administering these pharmaceutical compositions to a patient in need thereof.

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

The present disclosure relates to methods for treating tuberous sclerosis or tuberous sclerosis-associated epilepsy, comprising administering to a subject in need thereof a therapeutically effective amount of a pharmaceutically acceptable pregnenolone neurosteroid, e.g., ganaxolone, to alleviate one or more symptoms of tuberous sclerosis or tuberous sclerosis-associated epilepsy.

The invention belongs to the technical field of medicine application, discloses application of paeoniflorin in preparation of medicine for treating nodular sclerosis, and particularly discloses application of paeoniflorin or pharmaceutically acceptable salt thereof in preparation of medicine for treating and / or preventing hereditary intelligence and cognitive dysfunction diseases. The new medicinal value of the known compound paeoniflorin is explored, the paeoniflorin is used for treating the hereditary intellectual and cognitive impairment diseases (such as nodular sclerosis) and can be prepared into the medicine for treating the hereditary intellectual and cognitive impairment diseases, and a new application field is developed for application of radix paeoniae alba and radix paeoniae rubra medicinal materials.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

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 disclosure relates to methods for treating tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy, the methods comprising administering to a subject in need thereof a therapeutically effective amount of a pharmaceutically acceptable pregnenolone neurosteroid, such as ganaxolone, to alleviate one or more symptoms of tuberous sclerosis complex or tuberous sclerosis complex-related epilepsy.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

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 fluorinated phenylamino compounds, their pharmaceutical compositions, and methods for treating one or more tumors or cancers selected from the group consisting of plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), cutaneous neurofibromas (cNF), pancreatic ductal adenocarcinoma (PDAC), high grade glioma (HGG), low grade ovarian cancer, tuberous sclerosis (TSC), Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain, comprising administering to a patient in need thereof, those pharmaceutical compositions.

A biomarker for Tuberous sclerosis complex (TSC) with no mutation identified (NMI) in the TSC1 or TSC2 gene and a use thereof is provided. The biomarker is the expression level of IQGAP2 gene. The present disclosure analyzed and compared the whole-exon sequencing / clinical whole-exon sequencing results of TSC-NMI (No Mutation Identified, i.e., tuberous sclerosis complex with no mutation identified (NMI) in the TSC1 or TSC2 gene) patients with those of TSC patients having pathogenic mutations in TSC1 and TSC2 gene, and found a number of potential pathogenic candidate genes for TSC-NMI. Based on the long-term accumulated experience and experimental validation in this field, it was finally found that the IQGAP2 gene is related to TSC-NMI. Thus, IQGAP2 gene can be detected, and used as a detection marker for TSC-NMI and has potential as a drug target for treating the TSC-NMI patients.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

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.

The present invention belongs to the field of biomedical technologies, and particularly relates to the application of cinobufotalin in the preparation of drugs for treating tuberous sclerosis complex-related renal angiomyolipoma. The cinobufotalin can directly inhibit the growth of tuberous sclerosis complex-related renal angiomyolipoma cells and increase the protein expression level of apoptosis markers in tuberous sclerosis complex-related renal angiomyolipoma cells. The cinobufotalin can be used to prepare drugs for treating tuberous sclerosis complex-related renal angiomyolipoma. At the same time, the cost of cinobufotalin is relatively low, providing a new effective and low-cost potential drug for the treatment of tuberous sclerosis complex-related renal angiomyolipoma.

The disclosure to methods for treating tuberous sclerosis complex and epilepsy disorders comprising administering to a subject in need thereof a therapeutically effective amount of ganaxolone or a pharmaceutically acceptable salt thereof.

In various aspects and embodiments the invention provides a method of treating epilepsy in a subject in need thereof, the method comprising providing to the subject an effective amount of an FLNA modulator. In various embodiments, the FLNA modulator is PTI-125 or kartogenin. In various embodiments, the epilepsy is epilepsy associated with focal cortical dysplasia (FCD) type II or tuberous sclerosis complex (TSC).

In various aspects and embodiments the invention provides a method of treating epilepsy in a subject in need thereof, the method comprising providing to the subject an effective amount of an FLNA modulator. In various embodiments, the FLNA modulator is PTI-125 or kartogenin. In various embodiments, the epilepsy is epilepsy associated with focal cortical dysplasia (FCD) type II or tuberous sclerosis complex (TSC).