The U.S. Food and Drug Administration has approved velmanase alfa-tycv for the treatment of non-central nervous system manifestations of alpha-mannosidosis adult and pediatric patients.

Alpha mannosidosis is a multisystemic, lysosomal disorder caused by a deficiency in the enzyme alpha-D-mannosidase that leads to an abnormal accumulation of glycoproteins that can  damage various tissues and organs.

The symptoms and severity of alpha mannosidosis are highly variable. Symptoms may include distinctive facial features (e.g., prominent forehead and jaw, and a flattened nose), skeletal abnormalities, hearing loss, intellectual disability, and dysfunction of the immune system. Until today, the only treatment options for alpha mannosidosis were symptom management or hematopoietic stem cell transplantation (HSCT).

In the video clip below, Barbara Burton, MD, Attending Physician, Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children’s Hospital of Chicago, gives an overview of alpha mannosidosis.

 

 

Velmanase alfa is an enzyme replacement therapy (ERT) and like most, it tends to not cross the blood brain barrier. Details of the clinical data that led to the approval by the FDA are uncertain but a phase 3 clinical trial involving 25 patients  (15 receiving velmanase alfa and 10 receiving placebo), the ERT was shown to significantly decrease serum glycoproteins and improve most clinical endpoints that suggest it reduced disease progression.

To learn more about alpha mannosidosis and other lysosomal storage diseases, visit checkrare.com/diseases/lysosomal-storage-disorders/