In this article, Dr Alaa Hamed, Global Head of Medical Affairs for Rare Disease at Sanofi, shares why the company’s enzyme replacement therapy Xenpozyme® (olipudase alfa) has promise for the rare genetic disease acid sphingomyelinase deficiency (ASMD).
In 2022, Xenpozyme ® (olipudase alfa) became the first and only approved ASMD therapy. Enzyme replacement therapy Xenpozyme has been evaluated in children and adults to treat non-central nervous system (CNS) manifestations of ASMD type A/B and type B. According to Sanofi, the treatment is “designed to replace deficient or defective acid sphingomyelinase (ASM), an enzyme that allows for the breakdown of the lipid sphingomyelin”.
Are you looking to explore how lipid formulations in softgels can enhance drug absorption and bioavailability. Register for our upcoming webinar to find out!
3 September 2025 | 3:00 PM BST | FREE Webinar
This webinar will delve into the different types of lipid formulations, such as solutions, suspensions, emulsions, and self-(micro)emulsifying systems. Applications span diverse therapeutic areas including HIV therapy, oncology, immunosuppressants, and emerging treatments like medicinal cannabis (eg, CBD).
What You’ll Learn:
Lipid formulation development and screening tools for optimisation
Key steps in scale-up and industrialisation to ensure consistency and efficiency
Impact of lipid-based softgels on drug delivery and patient outcomes.
Can’t attend live? No worries – register to receive the recording post-event.
“ASMD is a rare disorder affecting the breakdown of certain complex fats in the body,” explained Dr Robin Lachmann, Principal Investigator at the National Hospital for Neurology and Neurosurgery, following the dosing of the first patient in a Sanofi Genzyme Phase II/III trial of olipudase alfa.
“These gradually accumulate over time in organs such as the liver, spleen and lungs, leading to debilitating and life-threatening complications. There is a clear need for a new treatment option which could positively affect the lives of patients with ASMD,” Dr Lachmann continued.
What is the current treatment landscape for rare diseases? What is working well and what is lacking?
There are over 7,000 known rare diseases impacting ~300 million people globally. Since the first orphan drug legislation was passed over 40 years ago, the landscape has changed rapidly, and patients are benefiting more and more from breakthrough innovations emerging through this scientific revolution. However, while there is much promise, only five percent of those 7,000 rare conditions have an available treatment, underscoring the tremendous need for continued research and development. Given the heterogeneous nature of rare diseases, clinical research must move beyond just patient-centric approaches and instead truly integrate the patient into scientific discovery, ensuring inclusion of invaluable insights from those living with rare diseases every day.
Can you summarise some of the key trial data for Xenpozyme presented at the SSIEM 2024 conference?
Final trial results from the Phase II ASCEND-Peds trial and extension study…[showed] that children treated with Xenpozyme for four or more years experienced normalisation or improvements in key disease features such as liver and spleen volume, lung function, and growth without any new safety concerns”
Final trial results from the Phase II ASCEND-Peds trial and extension study were presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2024.
These findings are especially encouraging, showing that children treated with Xenpozyme for four or more years experienced normalisation or improvements in key disease features such as liver and spleen volume, lung function, and growth without any new safety concerns. By addressing clinical manifestations early, these results suggest that Xenpozyme has the potential to redefine long-term outcomes for this vulnerable population. Therefore, Sanofi’s recent data on ASMD underscore the significant challenges faced by individuals with this condition. Clinical trials involving both adults and children have demonstrated that Xenpozyme is well tolerated and leads to improved disease outcomes.
What are the key challenges when developing an enzyme replacement therapy such as Xenpozyme (olipudase alfa)? What should the industry focus on to advance development of these treatments?
Developing innovative therapies always presents challenges. But these hurdles are particularly daunting in R&D for rare diseases like ASMD, which involve several obstacles, including the lack of disease knowledge. Often, scientific understanding of a rare disease evolves during therapeutic development. It can be difficult to identify and recruit patients as they are typically scattered across the world. There is also a greater risk of failure ― the scarcity of information available for a rare disease can lead to unpredictable clinical development outcomes. The future of rare disease innovation depends on the ability to effectively advance science within this highly complex R&D environment.
What other plans does Sanofi have regarding innovation in the rare disease treatment space?
Sanofi leverages over 40 years of R&D in rare lysosomal storage disorders (LSDs), which has enabled the development of first-ever medicines for five rare LSDs. Venglustat, an investigational oral glucosylceramide synthase inhibitor is currently in Phase III trials for Gaucher disease type 3 and Fabry disease.
About the interviewee
Dr Alaa Hamed is the Global Head of Medical Affairs for Rare Disease at Sanofi and has been with Sanofi for more than 12 years. Dr Hamed has spearheaded the development of numerous innovative disease-specific clinical outcome assessments. Prior to joining the company, he held various positions in both academia and biotech in health economics and outcomes research, medical, clinical, regulatory, and health services research. Dr Hamed holds an MD from Cairo University and both a Master of Business Administration and Master of Public Health from Boston University.
This website uses cookies to enable, optimise and analyse site operations, as well as to provide personalised content and allow you to connect to social media. By clicking "I agree" you consent to the use of cookies for non-essential functions and the related processing of personal data. You can adjust your cookie and associated data processing preferences at any time via our "Cookie Settings". Please view our Cookie Policy to learn more about the use of cookies on our website.
This website uses cookies to improve your experience while you navigate through the website. Out of these cookies, the cookies that are categorised as ”Necessary” are stored on your browser as they are as essential for the working of basic functionalities of the website. For our other types of cookies “Advertising & Targeting”, “Analytics” and “Performance”, these help us analyse and understand how you use this website. These cookies will be stored in your browser only with your consent. You also have the option to opt-out of these different types of cookies. But opting out of some of these cookies may have an effect on your browsing experience. You can adjust the available sliders to ‘Enabled’ or ‘Disabled’, then click ‘Save and Accept’. View our Cookie Policy page.
Necessary cookies are absolutely essential for the website to function properly. This category only includes cookies that ensures basic functionalities and security features of the website. These cookies do not store any personal information.
Cookie
Description
cookielawinfo-checkbox-advertising-targeting
The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Advertising & Targeting".
cookielawinfo-checkbox-analytics
This cookie is set by GDPR Cookie Consent WordPress Plugin. The cookie is used to remember the user consent for the cookies under the category "Analytics".
cookielawinfo-checkbox-necessary
This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Necessary".
cookielawinfo-checkbox-performance
This cookie is set by GDPR Cookie Consent WordPress Plugin. The cookie is used to remember the user consent for the cookies under the category "Performance".
PHPSESSID
This cookie is native to PHP applications. The cookie is used to store and identify a users' unique session ID for the purpose of managing user session on the website. The cookie is a session cookies and is deleted when all the browser windows are closed.
viewed_cookie_policy
The cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. It does not store any personal data.
zmember_logged
This session cookie is served by our membership/subscription system and controls whether you are able to see content which is only available to logged in users.
Performance cookies are includes cookies that deliver enhanced functionalities of the website, such as caching. These cookies do not store any personal information.
Cookie
Description
cf_ob_info
This cookie is set by Cloudflare content delivery network and, in conjunction with the cookie 'cf_use_ob', is used to determine whether it should continue serving “Always Online” until the cookie expires.
cf_use_ob
This cookie is set by Cloudflare content delivery network and is used to determine whether it should continue serving “Always Online” until the cookie expires.
free_subscription_only
This session cookie is served by our membership/subscription system and controls which types of content you are able to access.
ls_smartpush
This cookie is set by Litespeed Server and allows the server to store settings to help improve performance of the site.
one_signal_sdk_db
This cookie is set by OneSignal push notifications and is used for storing user preferences in connection with their notification permission status.
YSC
This cookie is set by Youtube and is used to track the views of embedded videos.
Analytics cookies collect information about your use of the content, and in combination with previously collected information, are used to measure, understand, and report on your usage of this website.
Cookie
Description
bcookie
This cookie is set by LinkedIn. The purpose of the cookie is to enable LinkedIn functionalities on the page.
GPS
This cookie is set by YouTube and registers a unique ID for tracking users based on their geographical location
lang
This cookie is set by LinkedIn and is used to store the language preferences of a user to serve up content in that stored language the next time user visit the website.
lidc
This cookie is set by LinkedIn and used for routing.
lissc
This cookie is set by LinkedIn share Buttons and ad tags.
vuid
We embed videos from our official Vimeo channel. When you press play, Vimeo will drop third party cookies to enable the video to play and to see how long a viewer has watched the video. This cookie does not track individuals.
wow.anonymousId
This cookie is set by Spotler and tracks an anonymous visitor ID.
wow.schedule
This cookie is set by Spotler and enables it to track the Load Balance Session Queue.
wow.session
This cookie is set by Spotler to track the Internet Information Services (IIS) session state.
wow.utmvalues
This cookie is set by Spotler and stores the UTM values for the session. UTM values are specific text strings that are appended to URLs that allow Communigator to track the URLs and the UTM values when they get clicked on.
_ga
This cookie is set by Google Analytics and is used to calculate visitor, session, campaign data and keep track of site usage for the site's analytics report. It stores information anonymously and assign a randomly generated number to identify unique visitors.
_gat
This cookies is set by Google Universal Analytics to throttle the request rate to limit the collection of data on high traffic sites.
_gid
This cookie is set by Google Analytics and is used to store information of how visitors use a website and helps in creating an analytics report of how the website is doing. The data collected including the number visitors, the source where they have come from, and the pages visited in an anonymous form.
Advertising and targeting cookies help us provide our visitors with relevant ads and marketing campaigns.
Cookie
Description
advanced_ads_browser_width
This cookie is set by Advanced Ads and measures the browser width.
advanced_ads_page_impressions
This cookie is set by Advanced Ads and measures the number of previous page impressions.
advanced_ads_pro_server_info
This cookie is set by Advanced Ads and sets geo-location, user role and user capabilities. It is used by cache busting in Advanced Ads Pro when the appropriate visitor conditions are used.
advanced_ads_pro_visitor_referrer
This cookie is set by Advanced Ads and sets the referrer URL.
bscookie
This cookie is a browser ID cookie set by LinkedIn share Buttons and ad tags.
IDE
This cookie is set by Google DoubleClick and stores information about how the user uses the website and any other advertisement before visiting the website. This is used to present users with ads that are relevant to them according to the user profile.
li_sugr
This cookie is set by LinkedIn and is used for tracking.
UserMatchHistory
This cookie is set by Linkedin and is used to track visitors on multiple websites, in order to present relevant advertisement based on the visitor's preferences.
VISITOR_INFO1_LIVE
This cookie is set by YouTube. Used to track the information of the embedded YouTube videos on a website.