Myotonic dystrophy type 1 (DM1) is a rare, progressive genetic disease that causes severe muscle weakness and other debilitating symptoms, such as compromised respiration and cardiac conduction abnormalities. No disease-modifying therapy exists for DM1, so care focuses on managing symptoms like arrhythmia, myotonia, hypertension, cataracts, respiratory issues and sleep disorders.
Axovia Therapeutics Inc. has been awarded a new $1.0 million grant by the nonprofit organization A Race Against Blindness to support the clinical development of AXV-101, an investigational gene therapy aimed at combating childhood blindness due to retinitis pigmentosa caused by Bardet-Biedl syndrome 1 (BBS1).
Adeno-associated virus (AAV)-based gene therapy is considered a promising strategy to treat hearing loss. However, its clinical application is limited by the genetic heterogeneity of hereditary hearing loss, requiring gene-specific analysis and approach optimization for broader treatment applications.
Editas Medicine Inc. has nominated a lead in vivo development candidate, EDIT-401, a potential one-time therapy designed to significantly reduce LDL cholesterol (LDL-C) levels. The in vivo gene editing medicine is designed to treat hyperlipidemia by directly editing the LDLR gene to increase LDLR protein expression and reduce LDL-C levels.
Opus Genetics Inc. has obtained IND clearance from the U.S. FDA application for OPGx-BEST1, a gene therapy for the treatment of bestrophin-1 (BEST1)-related inherited retinal disease (IRD).
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is an autosomal recessive disorder that causes progressive motor and cognitive impairment in children. The disease arises as a result of inactivating mutations in cytosolic carboxypeptidase 1 (CCP1), leading to excessive polyglutamylation of tubulin in the brain. Researchers at Shimane University have shown in a mouse model that delivering a truncated form of CCP1 into the brain can substantially mitigate Purkinje cell degeneration and improve motor function.
CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis, is a rare neurodegenerative disorder affecting neuronopathic lysosomal storage that severely impacts the central nervous system while also inducing notable peripheral neuromuscular symptoms. Researchers from Washington University School of Medicine have demonstrated the potential of gene therapy for CLN3 disease.
Purespring Therapeutics Ltd. has received the go-ahead for a phase I/II trial of its investigational gene therapy PS-002 from both the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) and the National Health Service Health Research Authority and Research Ethics Committee.
In an effort to develop next-generation treatments for cystinuria, researchers at Vanderbilt University and Tennessee Valley Health Services have used a non-viral piggyBac transposon approach to insert the Slc3a1 gene into one kidney of mice lacking the endogenous gene, which services as a model of type A cystinuria.
An experimental gene therapy based on the prime editing technique could become an effective treatment for alternating hemiplegia of childhood, a severe and currently incurable rare disease. David Liu’s lab at the Broad Institute, the inventor of this gene edition methodology, together with scientists from The Jackson Laboratory, successfully reversed the effects of five mutations associated with this disorder in a mouse model.
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