Sanofi’s Genzyme has recently secured the FDA approval for Nexviazyme (avalglucosidasalfa-ngpt). It has received Breakthrough Therapy and Orphan Drug Designations. This will
add more scope for treating patients with late-onset Pompe disease, a rare genetic condition. Nexviazyme is the third innovative drug to be launched by Sanofi for the Pompe disease management. Myozyme and Lumizyme are the other two drugs already available in the market. As per the US FDA, Nexviazyme approval is to treat patients 1 year of age and older with late-onset Pompe disease. It is an enzyme replacement therapy that aids in the reduction of glycogen accumulation. Pompe disease is characterized by glycogen accumulation in heart and skeletal muscles, caused enzyme deficiency. The clinical trial outcomes have indicated that avalglucosidase alfa-ngpt has superior benefits for the patients.
Manifestation of Pompe disease – Symptoms & Diagnosis
Both children and adults can be affected by this rare disease. It is classified as infantile or juvenile-onset and late-onset of Pompe disease. The infantile onset is further classified as the classic and non-classic onset. While the classic-onset is identified within a few months after child birth, the non-classic infantile-outset occurs when the child reaches around one year of age. This is a rare disease which is difficult to diagnose. One in forty thousand may have Pompe disease. It can be analyzed through some of the common symptoms and further confirmed with the help of advanced diagnostics. Weak muscles, enlarged liver, breathing difficulty, abnormal heart size, feeding problems and hearing difficulties are some of the well known symptoms of infantile-onset. The late-onset is manifested through several symptoms that include muscular weakness, breathing problems, increased tiredness, weight loss and morning headaches. Confirmatory tests are done through DNA analysis, enzyme studies and specialized tests such as electromyography. Experts from the all the related specialities would make a collective assessment to conclude if the condition is Pompe disease.
Therapeutic options for Pompe disease management
Early detection and treatment would play a very crucial role in the survival of patients with Pompe disease. Enzyme replacement therapy (ERT) is probably the only available treatment modality. It is an approved therapy. Administering ERT drugs like Myozyme or Lumizyme can prevent death and prolong survival. The approval of Nexviazyme will certainly expand the treatment possibilities. ERT works by supplementing for the enzyme deficiency through genetically engineered drugs. Glycogen clearance is the key objective of an enzyme replacement therapy. This can be fulfilled by Nexviazyme’s unique mechanism of action. The drug enhances the GAA enzyme uptake by targeting MP6 receptor, ultimately resulting in the glycogen clearance. With three vital drugs for treating a rare Pompe disease, Genzyme definitely has the genetic engineering innovation that really counts.
