55 results about "Neurofibromata" patented technology

The disclosure features methods for treating at least one symptom of neurofibromatosis type 1, treating at least one symptom of dystrophic scoliosis, or inducing bone healing by administering a soluble alkaline phosphatase (sALP) to the patient.

The present disclosure relates to a method for treating certain tumors or cancers, e.g., plexiform neurofibroma (PN), plexiform neurofibroma associated with neurofibromatosis type 1 (NF1-PN), by administering mirdametinib or a pharma- ceutical acceptable salt thereof to a patient in need thereof, e.g., by certain administration schemes.

Aspects of the disclosure relate to compositions and methods of treating certain genetic disease (e.g., Neurofibromatosis type I) by delivering functional neurofibromin 1(NF1) protein (e.g., mini-NF1 protein and / or full-length NF1 protein) to target cell (e.g., cells and / or tissue of a subject). The disclosure is based, in part, on isolated nucleic acids (e.g., rAAV vectors) and rAAVs engineered to express a functional NF1 protein (e.g., mini-NF1 protein and / or full-length NF1 protein) or variants thereof.

Provided are gene therapy vectors, such as adeno-associated virus (AAV), designed for treatment of mutations in the neurofibromin 1 (NF1) gene. The disclosed gene therapy vectors provide a mini-NF1 cDNA to a subject in need which results in expression of a functional NF1 protein. Also provided are compositions, nanoparticles, extracellular vesicles, exosomes, or vector comprising the NF1 gene with nerve-cell specific and Schwann-cell specific promoters and methods of using the mini-NF1 gene with nerve-cell specific and Schwann-cell specific promoters in treating neurofibromatosis type 1. Also provided are novel mini-NF1 gene constructs.

The present disclosure relates to an oral dosage form, such as a capsule, comprising (a) mirdametinib having a d90 no more than 250 microns, a d50 no more than 50 microns, or both, and (b) one or more pharmaceutically acceptable excipients. These dosage forms are useful in the treatment of tumors and cancers, such as plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), high grade glioma (HGG), low grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain. The disclosure also related to improved dosage regimens for mirdametinib treatments.

The invention relates to a multiplex fluorescent quantitative PCR (polymerase chain reaction) primer, a probe and a kit for detecting neurofibroma I type NF1 gene variation sites, and provides four NF1 gene mutation sites found for the first time, the four variation sites are NF1 gene c.21002105delinsAG, c.4561dup, c.6421del and c.6797dup variation sites respectively, and the mutation sites of the NF1 gene c.21002105delinsAG, the c.4561dup, the c.6421del and the c.6797dup can be used for detecting neurofibroma I type NF1 gene mutation sites. Meanwhile, the invention also provides a specific primer, a probe composition and a kit for detecting the NF1 gene variation site of the neurofibromatosis I type for screening or diagnosing the neurofibromatosis I type. The NF1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of the neurofibroma type I. The kit disclosed by the invention can comprehensively cover four new pathogenic variation sites of the NF1 gene related to the neurofibroma type I, is high in accuracy, and can specifically detect the pathogenic variation sites.

A biomarker composition for predicting susceptibility to a therapeutic agent for neurofibromatosis by using Ras activity; and a pharmaceutical composition for preventing or treating neurofibromatosis, including a Ras activity inhibitor. The biomarker composition can accurately diagnose susceptibility to a therapeutic agent for neurofibromatosis by measuring the expression levels of a GTP-bound and activated Ras (Ras-GTP) protein and an activated p-ERK protein or a gene encoding the same in a biological sample of an individual. The pharmaceutical composition inhibits the activity of Ras proteins, and thus can be effectively used for the prevention or treatment of neurofibromatosis in which the activity of the Ras proteins is increased.

Among the various aspects of the present disclosure is the provision of methods for inhibiting neuronal activity in NF1 tumors. One aspect of the disclosure provides for a method of inhibiting tumor growth comprising administering a neuronal activity inhibiting agent to a subject in need thereof. Another aspect of the disclosure provides for a method of attenuating neuronal excitability, activity-regulated mitogen production, and tumor progression comprising administering a neuronal activity inhibiting agent to a subject in need thereof. Yet another aspect of the disclosure provides for a method of activating HCN channels in a subject comprising administering a neuronal activity inhibiting agent to a subject in need thereof. Yet another aspect of the disclosure provides for a method of treating brain or and nerve tumors in Neurofibromatosis type 1 (NF1) comprising administering a neuronal activity inhibiting agent to a subject in need thereof.

The application discloses application of FTY720 as a PP2A phosphatase activator in preparation of a medicine for treating type I neurofibromatosis. The application first uses FTY720 for treatment of type I neurofibromatosis, and proves that FTY720 significantly inhibits formation of neurofibromas by non-specifically activating PP2A phosphatase. In-vivo experimental results show that FTY720 as a single drug can significantly inhibit tumor growth, and a synergistic effect is presented when FTY720 is combined with a MEK inhibitor, and tumor growth is almost completely inhibited. In-vitro cell experiments show that FTY720 as a single drug or in combination with MEKi treatment can inhibit tumor Schwann cells from forming tumor spheres, inhibit cell proliferation and migration, and induce tumor cell apoptosis. The application overcomes the drug resistance problem existing in the prior art MEK inhibitor, and provides a new treatment strategy for type I neurofibromatosis. FTY720 is an FDA-approved drug, and has good safety and drugability, and has high clinical conversion potential.

The invention relates to a multiplex fluorescent quantitative PCR (polymerase chain reaction) primer, a probe and a kit for detecting neurofibroma I type NF1 gene variation sites, and provides four NF1 gene mutation sites found for the first time, the four variation sites are NF1 gene c.21002105delinsAG, c.4561dup, c.6421del and c.6797dup variation sites respectively, and the mutation sites of the NF1 gene c.21002105delinsAG, the c.4561dup, the c.6421del and the c.6797dup can be used for detecting neurofibroma I type NF1 gene mutation sites. Meanwhile, the invention also provides a specific primer, a probe composition and a kit for detecting the NF1 gene variation site of the neurofibromatosis I type for screening or diagnosing the neurofibromatosis I type. The NF1 gene pathogenic variation spectrum is expanded, and a basis is provided for diagnosis and genetic counseling of the neurofibroma type I. The kit disclosed by the invention can comprehensively cover four new pathogenic variation sites of the NF1 gene related to the neurofibroma type I, is high in accuracy, and can specifically detect the pathogenic variation sites.

The present disclosure relates to methods for treating plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), comprising administering to a pediatric patient (e.g., 2 to 15 years of age) in need thereof mirdametinib or a pharmaceutically acceptable salt thereof.

The present invention relates to an inhibitor of an enzyme being involved in promoting cellular reductive capacity, preferably glucose-6-phosphate-dehydrogenase (G6PD) or acyl-CoA synthetase long chain family member 3 (ACSL3) for use in treating neurofibromatosis type 2 or preventing tumors caused by neurofibromatosis type 2.

The present invention relates to a method for preparing 4-(4-(2-(diethylamino)ethoxy)phenyl)-1-(4-methoxybenzyl)-1H-1,2,3-triazole-5-amine, which is a novel candidate material for NF2 treatment. Through an optimal preparation method, it is possible to prepare a compound with low impurities and high purity even at low manufacturing costs and within a short manufacturing time, and the compound prepared thereby can be used as a novel therapeutic agent for type 2 neurofibromatosis (NF2).

The present disclosure provides a CRISPR-based epigenetic repression system downregulating MAP2K1 and MAP2K2 expression for the treatment of RASopathies, such as neurofibromatosis type 1 (NF1).

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.

The present disclosure relates to an oral dosage form, such as a capsule, comprising (a) mirdametinib having a d90 no more than 250 microns, a d50 no more than 50 microns, or both, and (b) one or more pharmaceutically acceptable excipients. These dosage forms are useful in the treatment of tumors and cancers, such as plexiform neurofibromas (PN), plexiform neurofibromas associated with neurofibromatosis type 1 (NF1-PN), high grade glioma (HGG), low grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and a cancer that has metastasized to a patient's brain. The disclosure also related to improved dosage regimens for mirdametinib treatments.

This disclosure relates to an oral dosage form (such as a capsule) comprising (a) mildametinib having a d90 of 250 microns or less, a d50 of 50 microns or less, or both, and (b) one or more pharmaceutically acceptable pharmaceutical excipients. Such dosage forms are useful in the treatment of tumors and cancers (such as plexus neurofibroma (PN), plexus neurofibroma associated with neurofibromatosis type 1 (NF1-PN), high-grade glioma (HGG), low-grade ovarian cancer, Langerhans cell histiocytosis (LCH), brain cancer, and cancers that have metastasized to the patient's brain). This disclosure also relates to improved dosage regimens for mildametinib treatment.

The present invention relates to a composition for the prevention or treatment of neurofibromatosis type 2 syndrome. Unlike the conventional TβR1 kinase inhibitor TEW7197, the compound represented by chemical formula 1, a pharmaceutically acceptable salt thereof, a solvate thereof, a stereoisomer thereof, or a combination thereof, according to the present invention, suppresses TGF-β receptor 1 (TβR1)-mediated RKIP reduction without inhibiting normal TGF-β signaling and can therefore be used as a novel therapeutic agent for neurofibromatosis type 2 syndrome, which can overcome the problem of side effects caused by the inhibition of normal TGF-β signaling.

The present invention relates to a biomarker composition for predicting sensitivity to a neurofibromatosis therapeutic agent that utilizes Ras activity, and a pharmaceutical composition for preventing or treating neurofibromatosis, which comprises a Ras activity inhibitor. The biomarker composition can accurately diagnose sensitivity to a neurofibromatosis therapeutic agent through a simple method of measuring the expression levels of RAS (Ras-GTP) protein activated by binding of GTP and activated p-ERK protein or the gene encoding same in an individual's biological sample, and the pharmaceutical composition inhibits Ras protein activity, and will therefore be useful for preventing or treating neurofibromatosis in which Ras protein activity is increased.