Ending the Diagnostic Odyssey Is the Beginning of Better Care in ASMD

Published on: October 6, 2023


A long painstaking journey to diagnosis
Many people with ASMD go through an extremely difficult journey to diagnosis. This can be a confusing and scary time for everyone involved, lasting years – even decades. Through education and awareness, we are working with the ASMD community to help make the long road to diagnosis a thing of the past.

Imagine living with a medical condition so rare that one might go a lifetime without meeting another person with the disease. That describes the experience for many people living with ASMD, short for acid sphingomyelinase deficiency, an extremely rare genetic disease. Sanofi is committed to helping change this lonely reality. 

Sanofi has never waivered in our steadfast commitment to the ASMD community. For more than 20 years, our researchers have worked alongside other expert physicians and geneticists to establish the scientific foundation for an understanding of ASMD. Through awareness and education, we will continue elevating the powerful voices of patients, families, and care partners so no one impacted by this extremely rare disease faces it alone.
Burcu Eryilmaz

Burcu Eryilmaz

Sanofi's Global Franchise Head of Rare Diseases

A deeper dive into ASMD

People with ASMD are missing an enzyme needed to break down a certain kind of fat in the body. When the enzyme is missing or not working properly, the fatty substance starts to build up in the cells of the body, affecting multiple organs including the spleen, liver, and lungs.

The signs and symptoms of ASMD can be vastly different depending on where the build-up occurs in the body. Some of the most common symptoms include an enlarged spleen or liver, shortness of breath, extreme fatigue, difficulty breathing, unusual bleeding and bruising as well as an abnormal amount of lipids in the blood. The disease can also cause other health problems such as lung infections and respiratory and liver failure, which can be life threatening.

A tough disease to diagnose

ASMD is so rare many physicians may never encounter someone with the disease, leaving the medical community much less familiar with ASMD than other diseases. A person with ASMD might visit up to seven or more specialists before learning the name of the condition they have. 

Making matters worse, misdiagnosis is common because the symptoms of ASMD overlap with other conditions. This can add even more time to the already lengthy diagnostic journey. All the while, the serious disease complications continue to worsen.

What I hope we can change about ASMD is the diagnostic journey. Too many people spend two, five, even ten years trying to get an answer. Reducing the time to diagnosis and eliminating misdiagnoses could have a tremendous impact on the future of those living with this very rare disease.
Sandy Cowie

Sandy Cowie

ASMD type B patient and president of the International Niemann-Pick Disease Alliance

At Sanofi, we have been making concerted efforts to share our ASMD learnings and research with the wider medical community. Engaging experts from around the globe, we have developed educational resources specifically designed to raise awareness of the different diagnostic approaches for rare diseases such as ASMD and disease management strategies to help physicians who are on the frontline of care. These physicians are often the first to encounter patients with ASMD, playing a critical role in ensuring this disease can be recognized early before the health complications cause irreversible damage.

We are also evaluating different approaches to improve diagnosis, including the use of artificial intelligence that utilizes the electronic health records of people with unexplained lung disease. The aim is to develop a viable method to identify patients who may have ASMD, with the goal of reducing the diagnostic odyssey endured by so many, and hopefully allowing earlier intervention to help improve care.

A spirit of resilience

In working with the ASMD community for many years, we see a common thread that runs through the stories of people living with this disease. They share an indomitable spirit of strength. Their stories capture unimaginable challenges and incredible triumphs. They never give up. And neither will we. 

Sanofi takes pride in being at the forefront of ASMD research, always seeking solutions for the unmet needs in this amazingly resilient community. 


Explore more

A mom’s journey with her son, Jack, diagnosed with ASMD type B

Jack’s ASMD Story: Living with ASMD Type B

Anna's Story - Living with ASMD

MAT-GLB-2304645 v1.0 09/2023