Adjunctive Ambroxol May Help ERT Improve Neurological Symptoms in GD Type 3 Patients with type 3 Gaucher disease (GD) on long-term ERT showed meaningful improvement in neurological symptoms with daily ambroxol.

Patients with type 3 #GaucherDisease (GD) who added daily #Ambroxol to a long-term enzyme replacement therapy (#ERT) regimen showed meaningful improvements in neurological symptoms. Study in Life.

Learn more: https://bit.ly/4sbrC5u

#RareDisease #Neurology #MedSky

Phase 3 Study: Venglustat Shows Promise for CNS Manifestations of Type 3 Gaucher Disease In a phase 3 study, venglustat showed superiority over ERT in treating neurological symptoms of type 3 Gaucher disease (GD).

Sanofi has announced that #Venglustat met the primary endpoint and 3 out of 4 secondary endpoints in the phase 3 study evaluating the once-daily oral therapy for patients with type 3 #GaucherDisease (GD).

Read more: https://bit.ly/3NVWSqC

#RareDisease #GD #MedSky

Atypical GD Involves Additional Genetic Mutations, Underscoring Need for Personalized Treatment Precision genomic profiling revealed additional genetic mutations in patients with atypical presentations of Gaucher disease (GD).

Precision genomic profiling in patients with atypical #GaucherDisease (GD) revealed concurrent genetic variants.

Read more: https://bit.ly/4k4H7cN

#RareDisease #MedSky

FDA Expands Imiglucerase Indications to Include Type 3 Gaucher Disease, All Ages The FDA has expanded the indications for imiglucerase, making it the first approved therapy for non-CNS symptoms of type 3 GD.

The @fda.gov approved #Imiglucerase (#Cerezyme®) for the treatment of non-central nervous system (CNS) manifestations of both type 1 and type 3 #GaucherDisease (GD), making it the first and only approved therapy for non-CNS symptoms of type 3 GD.

Read more: https://bit.ly/4t1k8Um

#RareDisease

This goes to show what happens when religion is taken out of the equation, and human health is made the priority 😍 ... Will Mr. Trump, World Leaders, and the Middle East take note and learn from these Israelis and Palestinians? All we can do is hope.
#raredisease #gaucherdisease #healthcare

In Israel, World's Largest Gaucher Clinic Treats Both Jewish and Arab Patients Shaare Zedek’s Gaucher unit is the largest of its kind in the world and treats patients of both Israeli and Palestinian-Arab backgrounds.

Shaare Zedek’s Gaucher unit is the largest of its kind in the world and treats patients of both Israeli and Palestinian-Arab backgrounds.

Read the full feature here➡️: https://bit.ly/3KNdPBX

#RareDisease #GaucherDisease #MedSky #RareSky

New in JIMD 📖 Study of 79 children with Gaucher disease shows some can be safely monitored without ERT, while others benefit in bone outcomes after therapy. WBLH BMD is key for monitoring.
Revel-Vilk et al., 2025
doi.org/10.1002/jimd...
#GaucherDisease #ERT #RareDisease

The September issue is now online!

Read our latest articles!

🔗 onlinelibrary.wiley.com/toc/13652796/2025/298/3

#gaucherdisease #dementia #type2diabetes #CKD #cardiovascular #liverfibroses #depression #physicalactivity #amiodarone #thyroid #mediterraneandiet #cholecystokinin

New Review Article to read! Gaucher disease, state of the art and perspectives #gaucherdisease #glucocerebrosidase #lysosomes

🔗Read here: doi.org/10.1111/joim...

Our small contribution to improving knowledge about type 2 Gaucher disease @igagaucher.bsky.social is now available on
www.sciencedirect.com/science/arti...
Thanks to the first author, Dr. Aimee Donald from @uniofmanchester.bsky.social
#Neosky #Rarediseases #GaucherDisease

💡Rare Disease Spotlight: Gaucher Disease

Learn more about this rare disease with our latest article checkrare.com/a-global-col...

#CheckRare #RareDisease #GaucherDisease #RareLysosomal

Exploring breakthroughs in #GaucherDisease treatment is inspiring! 🌟 The market's evolving rapidly, offering hope and new possibilities for those affected. Let's continue supporting #MedicalResearch and innovative treatments. 🙌 shorturl.at/sNjcb #GaucherAwareness #Healthcare #Pharmaceuticals

Comparative study of enriched dopaminergic neurons from siblings with Gaucher disease discordant for parkinsonism bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution

📣 A new preprint available. 🧪 By comparing iPSC-derived DA neurons from three siblings with #Gaucherdisease, Team Vangheluwe sets out to determine the impact of genetic modifiers that influence PD penetrance in these patients.
www.biorxiv.org/content/10.1...