23 results about "Rett syndrome" patented technology

The invention belongs to the field of pathologies affecting the central nervous system: in particular, severe cerebral pathologies, more particularly those restricted by the presence of the blood-brain barrier (BBB): gliomas, cerebral metastases, neurodegenerative diseases (e.g. Alzheimer's, Parkinson's or ALS), genetic diseases (Huntington's, myopathies, Leigh syndrome, Rett syndrome), but also to the field of cancers, musculoskeletal and immunological disorders, vascular diseases (thrombus) in numerous organs (e.g. liver, kidney or muscle) and in combination with numerous therapeutic approaches (e.g. chemotherapy, immunotherapy, targeted therapy or gene therapy). The invention relates to a microbubble comprising a fluorinated polymer or copolymer and a fluorinated gas, to the use thereof and also to the polymer or copolymer intermediate compounds.

New 3-phenoxy-3-phenylpropanamine derivatives, compositions thereof and their use as a medicament in the treatment of nervous system disorders associated with cognitive deficits and behavioural dysfunctions, in particular fragile X syndrome and Rett syndrome.

To provide nucleic acids (including AAV expression cassettes), AAV vectors, and compositions for use in methods of treating and / or delaying the onset of diseases associated with mutations in mecp2 genes, such as Rett Syndrome.SOLUTION: Also provided herein are methods for treating a brain-derived neurotrophic factor (BDNF) - associated disease and / or delaying the onset of a brain-derived neurotrophic factor (BDNF) - associated disease. The present disclosure provides a nucleic acid comprising an adeno-associated virus (AAV) expression cassette, wherein the AAV expression cassette comprises, in a 5' to 3' direction, a 5' inverted terminal repeat (ITR), a synthetic activity-dependent promoter, a Rett syndrome-associated gene, and a 3' ITR.SELECTED DRAWING: None

MeCP2 based therapy. The present invention relates to synthetic polypeptides that are useful in the treatment of disorders associated with reduced MeCP2 activity, including Rett syndrome. The present invention provides synthetic polypeptides comprising: i) an MBD amino acid sequence showing at least 70% similarity with the amino acid sequence as depicted in SEQ ID NO: 1; and ii) an NID amino acid sequence showing at least 70% similarity with the amino acid sequence as depicted in SEQ ID NO: 2, wherein the polypeptide has a deletion of at least 50 amino acids, when compared to the full length MeCP2 e1 and e2 sequences. The invention further provides nucleic acid constructs, expression vectors, virions, pharmaceutical compositions, and cells providing polynucleotides of the invention. The invention further provides methods of treating or preventing disease in an animal comprising administering to said animal a synthetic polypeptide according to the invention.

Use of a substituted purine compound or a pharmaceutically acceptable salt thereof for treating one or more of autism spectrum disorder (ASD), Rett syndrome (RTT), and Fragile X syndrome (FXS). A method for treating one or more of ASD, RTT, and FXS comprising administration of a substituted purine compound or a pharmaceutically acceptable salt thereof. Use of a substituted purine compound or a pharmaceutically acceptable salt thereof in the preparation of a pharmaceutical for the treatment of one or more of ASD, RTT, and FXS. A pharmaceutical dose of a substituted purine compound or a pharmaceutically acceptable salt thereof for use in the treatment of one or more of ASD, RTT, and FXS in a subject, wherein the dose comprises 5 to 1000 mg / kg, preferably 10 to 600 mg / kg, more preferably 25 to 100 mg / kg, most preferably about 40 mg / kg of the substituted purine compound or a pharmaceutically acceptable salt thereof.

To provide treatment or preventive medication for autism spectrum disorder. [Solution] The present invention provides a PDE10A inhibitor for treating or preventing autism spectrum disorder. The inhibitor is 1-[2-fluoro-4-(1H-pyrazole-1-yl)phenyl]-5-methoxy-3-(1-phenyl-1H-pyrazole-5-yl)pyridazine-4(1H)-one or a salt thereof, and is a therapeutic or prophylactic agent for autism spectrum disorder selected from the group consisting of childhood disintegrative disorder, Rett syndrome, Cleefstra syndrome, Pitt-Hopkins syndrome, Angelman syndrome, Kabuki syndrome, Asperger syndrome, Heller syndrome, and pervasive developmental disorder.

Providing AAV-mediated targeting of miRNAs in the treatment of X-linked disorders. [Solution] This disclosure relates to the targeting of miRNAs to activate the expression of genes on an inactivated X chromosome. This gene therapy is useful for treating X-linked disorders, including Rett syndrome. This disclosure provides a novel gene therapy approach for treating X-linked disorders, such as Rett syndrome, which is caused by X-linked loss-of-function mutations. Polynucleotides and gene therapy vectors targeting one or more miRNAs known to inactivate one or more genes on the X chromosome are provided herein. The polynucleotides and vectors disclosed herein are designed to inhibit miRNAs and thereby reactivate the wild-type gene of interest on the X chromosome that has been inactivated.

Provided is a prophylactic or therapeutic agent for Rett syndrome. The prophylactic or therapeutic agent for Rett syndrome contains a PDE5 inhibitor.

The present invention relates to the use of cannabidiol (CBD) for the treatment of seizures associated with rare epilepsy syndromes. In particular the seizures associated with rare epilepsy syndromes that are treated are those which are experienced inpatients diagnosed with Rett syndrome. In a further embodiment the types of seizures include tonic, tonic-clonic, absence seizures and focal seizures with impairment. Preferably the dose of CBD is between 5 mg / kg / day to 50 mg / kg / day.

Changes in Reelin levels as well as Reelin signaling alter cognitive function. This can be accomplished by administering a therapeutically effective amount of a repeat fragment of Reelin, or a construct formed from fragment repeats of Reelin to a patient or subject. Changes to Reelin levels can be used to treat various neurodegenerative diseases, neuronal insults, or stroke, such as fragile X syndrome, William's syndrome, Rett syndrome, Down's syndrome, Angelman syndrome, autism, ischemia, hypoxia, Alzheimer's disease, and schizophrenia: Reelin can also be used to alter dendritic spine density, diminished long-term potentiation, and diminished synaptic plasticity and associative learning deficits. Constructs formed from repeat region 3 of full length Reelin and repeat region 5 of full length Reeling or repeat region 3 of full length Reelin and repeat region 6 of full length Reelin have been found particularly useful.

The invention relates to the field of pathologies affecting the central nervous system, particularly severe cerebral pathologies, especially those restricted by the presence of the blood-brain barrier (BBB): gliomas, brain metastases, neurodegenerative diseases (e.g., Alzheimer's, Parkinson's, or ALS), genetic diseases (Huntington's, myopathies, Leigh syndrome, Rett syndrome), but also to the field of cancers, musculoskeletal and immunological disorders, vascular diseases (thrombosis) in numerous organs (e.g., liver, kidney, or muscle) and in combination with numerous therapeutic approaches (e.g., chemotherapy, immunotherapy, targeted therapy, or gene therapy). The invention relates to a microbubble comprising a fluorinated polymer or copolymer and a fluorinated gas, its use, and intermediate polymer or copolymer compounds. Abbreviated figure: 0

The present invention relates to antisense oligonucleotides (ASOs) used to treat, prevent, or mitigate the progression of conditions such as type 2 diabetes mellitus (T2DM) and insulin resistance, leptin resistance and obesity, Rett syndrome, and cancer. Specifically, thiomorpholino-containing ASOs target the protein tyrosine phosphatase non-receptor type 1 (PTPN1) gene transcript during RNA processing and induce exon skipping (including exon 2), thereby inhibiting the expression of protein tyrosine phosphatase-1B (PTP1B) protein.

The present invention provides methods for treating a genetic neurodevelopmental disorder such as Rett syndrome, comprising administering to a subject in need thereof a liquid oral dosage formulation comprising a therapeutically effective amount of ANAVEX2-73.

Provided herein, inter alia, are expression systems capable of modulating MECP2 expression. In embodiments, the expression systems silence expression of endogenous MECP2 and induce expression of recombinant MECP2. The expression systems provided herein can be used to treat genetic disorders such as Rett syndrome.

The present invention relates to methods for treating Niemann-Pick disease, Rett syndrome, Leigh syndrome, Multiple System Atrophy, spinomuscular atrophy, Freidrich's Ataxia, or stroke.

New 3-phenoxy-3-phenylpropanamine derivatives, compositions thereof and their use as a medicament in the treatment of nervous system disorders associated with cognitive deficits and behavioural dysfunctions, in particular fragile X syndrome and Rett syndrome.

The present invention provides methods for treating a genetic neurodevelopmental disorder, such as Rett syndrome or Fragile X-syndrome, comprising evaluating a subject for his / her occurrence and / or severity of symptoms and / or specific biomarker levels before administering a dosage formulation of ANAVEX2-73 to the subject, administering the dosage formulation of ANAVEX2-73 to the subject for a period of time, re-evaluating the occurrence and / or severity of symptoms and / or specific biomarker levels, and optionally modifying the dosage of ANAVEX2-73 administered to the subject based on the re-evaluation results.

The invention provides a gene expression cassette containing a polynucleotide sequence for coding human MeCP2 protein, a viral vector carrying the gene expression cassette and application of the viral vector in treatment of Rett syndrome. According to the present invention, the provided gene expression cassette introduces one or more miRNA binding sites, such that the overexpression of the MeCP2 in the brain tissue is prevented, the expression of the MeCP2 in the DRG and the liver is reduced, and the safety problem possibly caused by the gene therapy is solved;

The present disclosure relates to compositions and methods for treating Rett syndrome and related MECP2 disorders.

The present invention features novel peripherally-restricted isoguvacine analogs with reduced blood brain barrier permeability and methods of use thereof for reducing tactile dysfunction, social impairment, and anxiety in a subject diagnosed with Autism Spectrum Disorder, Rett syndrome, Phelan McDermid syndrome, or Fragile X syndrome.

This invention relates to benzodiazepine derivatives, compositions comprising therapeutically effective amounts of those benzodiazepine derivatives and methods of using those derivatives or compositions in treating cognitive impairment associated with central nervous system (CNS) disorders. In particular, it relates to the use of a α5-containing GABAA receptor agonist (e.g., a α5-containing GABAA receptor positive allosteric modulator) as described herein in treating cognitive impairment associated with central nervous system (CNS) disorders in a subject in need or at risk thereof, including, without limitation, subjects having or at risk for age-related cognitive impairment, Mild Cognitive Impairment (MCI), amnestic MCI (aMCI), Age-Associated Memory Impairment (AAMI), Age Related Cognitive Decline (ARCD), dementia, Alzheimer's Disease (AD), prodromal AD, post traumatic stress disorder (PTSD), schizophrenia, bipolar disorder, amyotrophic lateral sclerosis (ALS), cancer-therapy-related cognitive impairment, mental retardation, Parkinson's disease (PD), autism spectrum disorders, fragile X disorder, Rett syndrome, compulsive behavior, and substance addiction. It also relates to the use of a α5-containing GABAA receptor agonist (e.g., a α5-containing GABAA receptor positive allosteric modulator) as described herein in treating brain cancers (including brain tumors, e.g., medulloblastomas), and cognitive impairment associated therewith.