Gaucher Disease Awareness Month highlights 'serious' unmet need from lack of neuronopathic therapies

Gaucher disease, a rare inherited metabolic disorder caused by mutations in the GBA1 gene, poses challenges for patients and physicians, especially concerning neurological symptoms.

Despite advancements, the shortage of therapies addressing the central nervous system (CNS) is a pressing concern during this month of awareness, says data and analytics company GlobalData. 

Sulayman Patel, analyst at GlobalData, comments: “Our research indicates a substantial gap in neuronopathic therapies for Gaucher disease patients, a concern amplified during Gaucher Disease Awareness Month. While this month aims to educate and raise awareness, it also highlights the need for intensified efforts to address this critical unmet need.”

Key opinion leaders interviewed by GlobalData have underlined the necessity for safe and effective treatments for the CNS.

Currently approved treatments, such as enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), focus on managing systemic manifestations, leaving the CNS unaddressed. Types 2 and 3 patients can face severe neurological symptoms that significantly impact their quality of life, including seizures, cognitive impairment, and poor coordination.

In response to this unmet need, pharmaceutical innovators are exploring cutting-edge gene therapies. Gene therapies, such as Prevail Therapeutics’ PR001, have the potential to revolutionize the treatment landscape for Gaucher disease.

According to GlobalData, there is a critical need for collaboration between pharmaceutical innovators, researchers, and regulatory bodies. This collaborative effort is essential in driving the development of safe and effective therapies and providing hope to patients affected by neuronopathic Gaucher disease.

Patel concludes: “Gene therapy represents the future of Gaucher disease treatment. Our analysis suggests it holds the greatest potential to revolutionize the standard of care, a beacon of hope for patients and advocates during Gaucher Disease Awareness Month.

"This month also serves the purpose to emphasize the importance of early intervention strategies, with a focus on premarital and pre-natal screening. Identifying carrier mutations through screening enables appropriate genetic counseling, aiding families in making informed decisions about family planning and supporting early intervention.”