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.

Frontera Therapeutics Inc. has developed FT-017, an adenovirus-associated vector(AAV)-based gene therapy that carries a human MYBPC3 optimized codon, for the treatment of hypertrophic cardiomyopathy (HCM).

The EMA has granted European orphan drug designation to Purespring Therapeutics Ltd.’s PS-002 for IgA nephropathy (IgAN).

Blackfinbio Ltd. has obtained IND clearance from the FDA for its novel AAV gene therapy, BFB-101, for hereditary spastic paraplegia type 47 (SPG47), which is caused by changes in the AP4B1 gene. A phase I/II trial will be conducted in the U.S. at Boston Children’s Hospital.

Sangamo Therapeutics Inc.’s second large, worldwide licensing deal for its capsid technology in the past five months is with Astellas Pharma Inc. The California-based company is getting $20 million up front and the chance to bring in up to $1.3 billion in fees and milestone payments in an agreement spanning five potential disease targets for gene therapies to treat neurological diseases.

Sangamo Therapeutics Inc.’s second large, worldwide licensing deal for its capsid technology in the past five months is with Astellas Pharma Inc. The California-based company is getting $20 million up front and the chance to bring in up to $1.3 billion in fees and milestone payments in an agreement spanning five potential disease targets for gene therapies to treat neurological diseases.

Spark Therapeutics Inc. has presented preclinical data on SPK-10001, an engineered adeno-associated virus (AAV).

Researchers from Purespring Therapeutics Ltd. and affiliated organizations have presented preclinical data for the adeno-associated vector (AAV) gene therapy PS-001 for the treatment of glomerular disease.

Podocytes are a terminally differentiated cell type located in the glomerulus. Podocyte damage and the subsequent dysregulation of podocyte proteins have been implicated in various kidney disorders. Since gene delivery to podocytes using adeno associated vectors (AAVs) has been challenging due to various technological and physiological hurdles, investigators at Purespring Therapeutics Ltd. developed an AAV gene therapy platform that allowed for effective, specific and safe delivery of transgenes to podocytes.