WHAT IS ASMD ?

What is Acid Sphingomyelinase Deficiency?

ASMD (more historically known as Niemann-Pick Types A & B) is an ultra rare, fatal genetic disease that results from a deficiency of the enzyme acid sphingomyelinase causes. This deficiency causes a fatty substance (lipid) called sphingomyelin to build up in cells throughout the body causing major organ malfunction and eventually cell death. Type A and Type B were once thought to be separate diseases, but are now understood to be opposite ends of a spectrum of the same disease. Many variations exist within this spectrum, in terms of clinical symptoms and rate of progression.

ASMD affects primarily the liver, spleen, lungs, and in severe cases (like Roman and Stella's) it affects the brain, causing aggressive nuerological decline.

It is inherited when two copies of a faulty gene (a mutation) are passed on to a child. In every pregnancy of a couple who each carry a copy of the faulty ASMD gene, there is a 1 in 4 chance (25%) that their child will be diagnosed with ASMD. This is known as autosomal recessive inheritance.

Sadly, in most cases of the more severe form of this disease (type A) the life expectancy rarely exceeds three years of age, while individuals diagnosed with the more mild form (type B) can live well into adulthood.

What Are The Symptoms of ASMD ?

An enlarged liver and spleen
Distended belly
Progressive loss of muscle tone (hypotonia)
Frequent vomiting and nausea leading to feeding difficulties and failure to thrive
Rapid neuro-degeneration (think baby Alzheimer’s) that leads to death typically by age three

Are There Any Treatments ?

In 2022, the FDA approved the first ever treatment for the non-neurological manifestations of ASMD (Type B) with a drug called Olipudase Alfa. (Read the press release here).This drug is administered intravenously through bi-weekly infusions. These infusions essentially reverse damage done from the neck down (helps improve lung disease, liver/spleen issues, etc). Roman and Stella have been receiving this drug since before it’s FDA approval and we have seen some remarkable changes within their bodies since beginning it. It does not, however, cross the blood brain barrier to stop the devastating neurological disease progression that occurs with Type A.

Roman and Stella are currently one of a few children worldwide who have started an experimental treatment for the neurological manifestations of ASMD. It is a type of FAAH Inhibitor that has been shown (in mice models) to slow down or potentially even stop the nuerological disease progression. Although we have seen positive changes since they have begun this drug, there is still A LOT of research that needs to be conducted to figure out the full potential of this drug. We are currently fundraising for Wylder Nation Foundation who is at the cutting edge of developing treatments for the neurological disease. You can read more about their specific research projects here.