Rare Disease Video Recap—February 12, 2026

This biweekly Rare Disease Video Recap  covers regulatory actions, late-stage clinical readouts, designations, access updates, and partnerships across metabolic, hematologic, and genetic disorders.

🎯 Watch Our Video Summary Capturing Rare Disease News from the Last Two Weeks

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• Weeks 29 January–4 February 2026
• Week 5–11 February 2026

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Top Stories Covered In This Video

Chapters

0:00 Introduction
0:08 Sanofi: Venglustat met primary endpoint in GD3 Phase 3, superiority vs ERT on neuro measures, filings planned
0:50 Chiesi/Protalix: Positive CHMP opinion for Elfabrio 2 mg/kg every 4 weeks in stable adult Fabry patients
1:17 Moderna & Recordati: Commercial partnership on mRNA-3927 for propionic acidemia, up to $160M
1:41 Eton Pharma: Licensed US rights to an unnamed ultra-rare generic candidate under FDA review, potential mid-2026 launch
2:08 Regenxbio: FDA issued CRL for RGX-121 in Hunter syndrome, citing trial design and surrogate endpoint concerns
2:30 Sanofi: Rilzabrutinib got FDA Breakthrough Therapy in US and Orphan in Japan for wAIHA
2:58 Vanscoy Rare Pharmacy: Selected as exclusive US distributor for Redemplo (plozasiran) in FCS
3:25 THX Pharma & Biocodex: Licensing deal for Batten-1 and TX01 across three rare diseases, up to €173M
4:05 How to reach us

Transcript

Welcome to the latest edition of Rare Disease Updates, covering breakthroughs in the past two weeks. Brought to you by LucidQuest.

First, Sanofi reports that venglustat met the primary endpoint in the LEAP2MONO Phase 3 trial in Gaucher disease type 3, including adults and adolescents twelve and older. The oral glucosylceramide synthase inhibitor achieved the primary and three of four key secondary endpoints, and showed superiority versus enzyme replacement therapy on a neurocognitive composite of SARA-mod and RBANS at week 52, with p=0.007. Non-neurologic outcomes were comparable to ERT, and tolerability was reported as favorable, with regulatory filings planned.

Next, the CHMP issued a positive opinion for Elfabrio at 2 mg/kg every four weeks for stable adult Fabry patients on enzyme replacement therapy. The opinion was informed by the open-label BRIGHT switch-over study, with a European Commission decision expected by March 2026. This regimen could add competitive pressure on pricing and access.

Moderna and Recordati announced a commercial partnership for mRNA-3927 in propionic acidemia. Moderna leads development and manufacturing, and Recordati will commercialize. The deal totals up to 160 million dollars, including 50 million upfront, with pivotal results expected later in 2026 per the source.

Eton Pharmaceuticals licensed United States rights to an unnamed ultra-rare product candidate under active FDA review. It would be the first generic alternative for a condition affecting fewer than one hundred patients in the US, with potential approval and launch in mid 2026. Details are to be disclosed upon approval, which could influence pricing and formulary dynamics.

The FDA issued a Complete Response Letter for Regenxbio’s RGX-121 in Hunter syndrome after an accelerated approval filing. Cited issues included population definition, use of a natural history control, and the biomarker surrogate endpoint. The company plans a resubmission with longer-term data.

Sanofi’s rilzabrutinib received FDA Breakthrough Therapy designation in the US and Orphan designation in Japan for warm autoimmune hemolytic anemia, supported by Phase 2b LUMINA 2 data, while the Phase 3 LUMINA 3 study is ongoing. It is the first BTK inhibitor to earn Breakthrough Therapy in wAIHA.

Vanscoy Rare Pharmacy was selected as the exclusive US distribution pharmacy for Redemplo, plozasiran, for adults with familial chylomicronemia syndrome. The siRNA is indicated as an adjunct to diet to reduce triglycerides in FCS, and the agreement includes comprehensive patient support services that may scale screening, initiation, and follow-up.

Finally, THX Pharma and Biocodex announced a strategic licensing agreement covering three rare diseases. The deal includes a global license for Batten-1 for juvenile Batten disease, CLN3, and a US and Canada license for TX01 for Gaucher disease and Niemann–Pick type C. The total value is up to €173 million, with €12 million upfront and up to €161 million in milestones, plus tiered double-digit royalties, with THX leading clinical development.

Stay ahead in Rare Disease research! Like, share, and subscribe for our updates. Visit www.lqventures.com or email us at info@lqventures.com for expert healthcare consulting. See you next time!

Why it matters

• GD3 neuro efficacy data for an oral GCSi could shift standards if filings succeed [1].
• Less frequent Elfabrio dosing may reduce infusion burden and pressure Fabry market access [2].
• mRNA-3927 partnership underscores pharma appetite for rare metabolic indications [3].
• FDA CRL to RGX-121 spotlights evidentiary bar for gene therapy accelerated approvals [5].
• US BTD and Japan Orphan for rilzabrutinib may expedite development in wAIHA [6].

🗓️ Explore weekly details and sources

• Weeks 29 January–4 February 2026
• Week 5–11 February 2026

📚 Find your one-stop page for the full Rare Disease archive.

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