Rare Diseases Today—February 5, 2026

This weekly update in rare diseases highlights key developments in regulatory actions, clinical progress, and partnerships, reflecting significant strides in advancing treatments.

In Today’s Newsletter

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✨ Sanofi: Venglustat Meets Primary Endpoints in Phase 3 Study for Type 3 Gaucher Disease [1] [EU & US • 2 Feb 2026]

https://www.sanofi.com/en/media-room/press-releases/2026/2026-02-02-06-00-00-3229947
Context: Sanofi announced that its investigational drug, venglustat, has met all primary endpoints in the LEAP2MONO phase 3 study for Type 3 Gaucher Disease (GD3).
Key point: Venglustat demonstrated superiority over enzyme replacement therapy in addressing neurological symptoms of GD3.
Implication: This breakthrough could pave the way for a new oral treatment for GD3, offering hope to patients with limited treatment options.

🧬 CIRM: $100 Million Plan to Accelerate Genetic Therapies for Rare Diseases [2] [US • 30 Jan 2026]

https://www.globenewswire.com/news-release/2026/01/30/3229484/0/en/CIRM-approves-new-100-million-plan-to-accelerate-genetic-therapies-for-patients-with-rare-diseases.html
Context: The California Institute for Regenerative Medicine (CIRM) has approved a $100 million program to accelerate the development of genetic therapies for rare diseases.
Key point: The RAPID program aims to create a scalable, efficient model for delivering transformative therapies to the millions affected by rare diseases.
Implication: RAPID could drastically reduce development timelines and costs, potentially revolutionizing the treatment of rare conditions.

🧪 DiMe: Core Digital Measures to Accelerate Pediatric Rare Disease Drug Development [3] [US • 29 Jan 2026]

https://www.prnewswire.com/news-releases/dime-introduces-core-digital-measures-set-to-accelerate-drug-development-for-pediatric-rare-diseases-302673487.html
Context: The Digital Medicine Society (DiMe) introduced a set of core digital clinical measures for pediatric rare diseases, aimed at improving trial efficiency and reducing development costs.
Key point: These digital measures will help standardize data collection across rare pediatric conditions, making clinical trials more feasible and accelerating therapy development.
Implication: This initiative will enable faster and more cost-effective development of treatments for children suffering from rare diseases.

💉 EveryLife Foundation: Announces 2025 RareVoice Award Winners [4] [US • 3 Feb 2026]

https://www.prnewswire.com/news-releases/the-everylife-foundation-for-rare-diseases-announces-rarevoice-award-awardees-302676969.html
Context: The EveryLife Foundation announced the winners of the 2025 RareVoice Awards, which recognize individuals and organizations advocating for rare disease patients.
Key point: Awardees include leaders in federal and state policy advocacy, highlighting the growing importance of rare disease patient voices in policymaking.
Implication: These awards promote continued advocacy and policy impact for the rare disease community, potentially leading to better access to treatments.

🧬 Chiesi & Protalix: Positive CHMP Opinion for New Elfabrio® Dosing Regimen in Fabry Disease [5] [EU • 30 Jan 2026]

https://www.globenewswire.com/news-release/2026/01/30/3229592/0/en/Chiesi-Global-Rare-Diseases-and-Protalix-BioTherapeutics-Receive-Positive-CHMP-Opinion-for-an-Additional-Dosing-Regimen-of-2mg-kg-Body-Weight-Every-Four-Weeks-for-Elfabrio-peguniga.html
Context: Chiesi and Protalix received a positive CHMP opinion for an extended dosing regimen of Elfabrio® (pegunigalsidase alfa) for Fabry disease.
Key point: The new regimen would allow for infusions every four weeks, reducing the treatment burden for patients.
Implication: This approval would offer a more convenient treatment option for Fabry disease patients, enhancing their quality of life.

💉 Moderna: Teams Up with Recordati on mRNA Therapy for Propionic Acidemia [6] [US • 30 Jan 2026]

https://www.biospace.com/deals/moderna-teams-with-recordati-on-rare-disease-mrna-therapy-for-up-to-160m
Context: Moderna has partnered with Recordati to develop an mRNA-based therapy for propionic acidemia, a rare metabolic disorder.
Key point: The therapy, mRNA-3927, has shown early clinical benefits in treating this life-threatening condition.
Implication: This collaboration could lead to a new treatment option for propionic acidemia, potentially transforming patient outcomes.

🧪 Eton Pharmaceuticals: Licenses Ultra-Rare Disease Product Candidate [7] [US • 2 Feb 2026]

https://www.globenewswire.com/news-release/2026/02/02/3230097/0/en/eton-pharmaceuticals-announces-licensing-of-rare-disease-product-candidate.html
Context: Eton Pharmaceuticals has licensed a product candidate for an ultra-rare disease, currently under FDA review.
Key point: The product aims to be the first and only generic alternative for a condition affecting fewer than 100 patients in the US.
Implication: If approved, this product would provide a much-needed alternative for patients with this ultra-rare condition.

Why it matters

Sanofi’s Venglustat offers a promising new treatment for Type 3 Gaucher Disease, which could significantly improve patients’ quality of life.
CIRM’s RAPID Program represents a groundbreaking approach to accelerating genetic therapies, setting the stage for transformative treatments across multiple rare diseases.
DiMe’s Core Digital Measures will make clinical trials for pediatric rare diseases more efficient and less burdensome, facilitating quicker access to life-saving treatments.
EveryLife Foundation’s RareVoice Awardees highlight the critical role of advocacy in shaping policies that improve the lives of those with rare diseases.
Chiesi & Protalix’s Positive CHMP Opinion for Elfabrio® could provide a more convenient treatment regimen for Fabry disease patients, enhancing their care experience.
Moderna’s Partnership with Recordati brings innovative mRNA technology to treat propionic acidemia, potentially revolutionizing treatment options for this rare condition.
Eton Pharmaceuticals’ Licensing Agreement offers hope for patients with ultra-rare diseases, providing a much-needed generic alternative in a challenging market.

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FAQ

What is Venglustat used for?

Venglustat is an investigational drug for Type 3 Gaucher Disease (GD3) and aims to address neurological symptoms in patients with this rare condition. [1]

What is RAPID?

RAPID is a $100 million initiative by CIRM to accelerate the development of genetic therapies for rare diseases using scalable, platform-based approaches. [2]

What is mRNA-3927?

mRNA-3927 is an experimental mRNA therapy being developed by Moderna and Recordati to treat propionic acidemia, a rare metabolic disorder. [6]

Entities / Keywords

Sanofi, Venglustat, Gaucher Disease, CIRM, RAPID, Genetic Therapies, DiMe, Digital Measures, Pediatric Rare Diseases, EveryLife Foundation, RareVoice Awards, Chiesi, Protalix, Elfabrio, Fabry Disease, Moderna, Recordati, mRNA-3927, Propionic Acidemia, Eton Pharmaceuticals, Ultra-Rare Disease.