In a press release from Sanofi, a global biopharmaceutical company, the company’s experimental therapy candidate olipudase alfa has demonstrated the ability to substantially improve spleen volume and lung function in both adult and pediatric patients living with acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disorder. The findings were first presented at the American Society of Human Genetics 2020 Virtual Meeting.
About Acid Sphingomyelinase Deficiency
Acid sphingomyelinase deficiency (ASMD) was previously thought to be two diseases: Niemann-Pick disease type A and Niemann-Pick disease type B. More recent research has determined that these two illnesses were in fact extreme spectrums of a single illness. What was previously known as type A is a very severe disease that begins causing problems in infancy; patients experience failure to thrive, jaundice, enlarged liver, and progressive degeneration of the nervous system. Most patients don’t live beyond 3 years of age. What was previously called type B is less severe. This form can present anywhere from early childhood to later on in life. Symptoms include enlarged liver and spleen, problems with lung function, lung infections, inhibited growth, low platelet count, and abnormal cholesterol and lipid levels. Unlike type A, the central nervous system is usually spared in type B. Nevertheless, life-threatening complications still appear. There are no disease-altering therapies available for ASMD. To learn more about this disease, click here.
Trial Results
In a phase 2/3 study that included a total of 36 adult patients, participants received either a 3 mg/kg dose of olipudase alfa or placebo every two weeks for a period of 52 weeks. Patients saw their lung function increase by 22 percent compared to the 3 percent in the placebo group. Meanwhile, spleen volume went down by 39.5 percent, and liver volume dropped by 31.7 percent. Mean platelet counts also improved by 16.8 percent.
In a phase 2 trial of 20 pediatric patients, patients received the treatment at the same dose level for a 64 week period. Patients saw lung function improve by a mean of 33 percent in the nine patients that were capable of performing the test procedure at baseline. Platelet count improved by 34 percent. Spleen and liver volume dropped by 49 percent and 41 percent, respectively.
About Olipudase Alfa
Olipudase alfa, which is recombinant human acid sphingomyelinase, is being developed as an enzyme replacement therapy for acid sphingomyelinase deficiency. The therapy has not been tested in patients with the more severe type A spectrum of the disease. It has earned Breakthrough Therapy designation in the US, Priority Medicines (PRIME) designation in the EU, and SAKIGAKE designation in Japan.
The findings from this study suggest that olipudase alfa could be a useful, disease modifying therapy that could have a significant effect on the non-CNS impacts of acid sphingomyelinase deficiency.
