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Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. They typically present in infancy and childhood, although adult-onset forms also occur. Most LSDs have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. LSD-associated genes encode different lysosomal proteins, including lysosomal enzymes and lysosomal membrane protein (Platt et al, 2018).

Azafaros B.V. is pioneering the development of innovative oral small molecule compounds addressing the pathological effects of metabolite accumulation in rare metabolic disorders. Their lead compound, nizubaglustat, leverages unique dual-mode action, making it a promising candidate for modifying diseases irrespective of patient genotypes. Notably effective against conditions such as GM1 and GM2 gangliosidoses and Niemann-Pick disease type C, nizubaglustat has shown commendable safety and tolerability in initial human studies. Oral administration allows for home-based, lifelong treatment, enhancing quality of life, particularly for pediatric patients, and reducing dependency on gene or enzyme replacement therapies. The U.S. FDA's Orphan Drug Designations underscore its potential. Preclinical studies further suggest its broader applicability in lysosomal storage disorders by counteracting glycosphingolipid accumulation. As Azafaros continues diligent research, nizubaglustat remains at the forefront of potential treatments for intricate lysosomal storage diseases.