Methods and compounds for stimulating read-through of premature termination codons

• Main Authors: Rowe, Steven, Bedwell, David M, Du, Ming, Keeling, Kim M, Mutyam, Venkateshwar
• Format: Patent
• Language: English
• Published: 30.03.2021
• Subjects: AGRICULTURE; ANIMAL HUSBANDRY; BEER; BIOCHEMISTRY; BIOCIDES, e.g. AS DISINFECTANTS, AS PESTICIDES, AS HERBICIDES; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; FISHING; FORESTRY; HUMAN NECESSITIES; HUNTING; HYGIENE; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; MEDICAL OR VETERINARY SCIENCE; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PEST REPELLANTS OR ATTRACTANTS; PLANT GROWTH REGULATORS; PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES; PRESERVATION OF BODIES OF HUMANS OR ANIMALS OR PLANTS OR PARTSTHEREOF; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS ORMEDICINAL PREPARATIONS; SPIRITS; TRAPPING; VINEGAR; WINE

The present disclosure provides compositions and methods for treating and/preventing diseases and conditions associated with premature termination mutations. The methods disclosed herein comprise the step of administering to the subject a therapeutically effective dose of a compound described herein that induces read-through of the premature termination codon. The methods of the present disclosure may further comprise treating the subject with enzyme replacement therapy wherein the enzyme replacement therapy is selected for the disease or condition to be treated. Furthermore, the present disclosure provides method of pharmacologically suppressing premature termination codons in a subject in need of such suppression.