7 results about "Fragile x" patented technology

Disclosed are compounds of the formula (I) and pharmaceutically acceptable salts thereof, wherein Ring A, Ring B, R1, R2, R3, R12, and L are as defined herein. The compounds are antagonists of the resistant (R-type) voltage-gated calcium ion channel Cav 2.3. Also disclosed are pharmaceutical compositions comprising the compounds; and the compounds for use in the treatment of diseases modulated Cav 2.3, including epilepsy, neurodegenerative conditions such as Parkinson's disease, focal, drug-resistant forms of epilepsy, and other neurological disorders such as developmental and epileptic encephalopathies and Phelan-McDermid and Fragile X syndromes.

The invention relates to application of a fragile X intellectual disorder No.1 gene in treating or relieving osteoarthritis, and belongs to the technical field of biological medicines. Researches show that the osteoarthritis is accompanied by increase of the concentration of fragile X chromosome intellectual retardation protein in serum and increase of synovial inflammatory macrophages, the fragile X chromosome intellectual retardation protein in the synovial inflammatory macrophages aggravates the progress of the osteoarthritis, articular cavity synovial inflammatory macrophage FMRP genes are inhibited in a targeted manner, and the osteoarthritis can be used for treating osteoarthritis. A new thought is provided for prevention and treatment of osteoarthritis, a support is provided for clinical transformation, and at present, related reports for treating or relieving osteoarthritis through target intervention are not found yet.

Disclosed are compositions for RNAi of fragile X-related protein 1 (FXR1), nanoparticles comprising the same, pharmaceutical compositions comprising the same and method of treating diseases and disorders associated with FXR1 expression in a subject in need thereof. The methods may comprise modified nucleotides, e.g., locked nucleic acids (LNAs). The methods may comprise administering a therapeutically effective amount of the disclosed compositions to a subject in need thereof, e.g., a subject suffering from a disease or disorder associated with FXR1 expression.

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.

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.