Rare Disease Video Recap—December 4, 2025

This biweekly Rare Disease Video Recap highlights regulatory designations, early clinical progress, policy momentum, and strategic partnerships that are shaping pipelines and future patient access.

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

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Week 20–26 November 2025
Week 27 November–3 December 2025

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Transcript

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

In the United States, the FDA approved Novartis’ Itvisma, the intrathecal onasemnogene abeparvovec-brve, for spinal muscular atrophy in patients two years and older, including adults. Company reports from the Phase III STEER and Phase IIIb STRENGTH programs describe improved motor function and stabilization over 52 weeks, positioning this one-time SMN1 gene replacement for prescriber and payer consideration as full datasets emerge.

North of the border, Canada’s national rare disease drug strategy reached its midpoint. CORD notes that Phase 1 has funded at least 12 drugs across nine conditions and calls for expanded newborn and early screening plus stronger real-world data infrastructure to reduce diagnostic delays and guide system planning.

Back in the US, EMD Serono received FDA Fast Track for oral cladribine capsules in generalized myasthenia gravis. The global Phase 3 MyClad trial plans to enroll 264 participants, the program already holds Orphan Drug Designation, and the company highlights a patient council alongside a digital monitoring pilot to inform development.

From a European policy angle, an op-ed urges AI-enabled, digitally enhanced rare disease care, aligning telemedicine and analytics with the European Health Data Space to accelerate diagnosis and personalize treatment pathways.

In gene therapy, Solid Biosciences reported FDA Rare Pediatric Disease and Fast Track designations for SGT-212 in Friedreich’s ataxia, a dual-route approach that combines intradentate nucleus and intravenous delivery. The FALCON Phase 1b study is screening, and a priority review voucher could be available upon approval per program rules.

Latus Bio announced IND clearance for LTS-101 in CLN2 disease, an AAV program designed to restore TPP1 expression in the central nervous system. The asset carries Fast Track, Orphan Drug, and Rare Pediatric Disease designations, signaling momentum toward first-in-human evaluation.

Kedrion received EMA Orphan Drug Designation for a plasma-derived ceruloplasmin therapy in congenital aceruloplasminemia, complementing prior FDA recognition and supporting a path into EU clinical development with potential implications for future pricing and access.

Finally, Regeneron and Tessera expanded rare disease modalities through a collaboration on TSRA-196 for alpha-1 antitrypsin deficiency. The structure includes 150 million dollars in upfront and equity consideration, up to 125 million in milestones, a 50–50 cost and profit split, and Tessera leading first-in-human work, with preclinical data indicating liver specificity for in vivo gene writing.

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Why it matters

FDA and EMA actions set access and reimbursement discussions for 2026.
AI and data infrastructure are emerging as core levers to shorten rare disease diagnostic journeys.
BD partnerships and designation clusters de-risk early programs and can pull forward milestones.
Oral and one-time treatments in neuromuscular and pediatric neurodegeneration expand patient options.

🗓️ Explore weekly details and sources

Week 20–26 November 2025
Week 27 November–3 December 2025

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

FAQ

What did the FDA approve for SMA on 24 Nov 2025? [1]

It approved Itvisma (intrathecal onasemnogene abeparvovec-brve) for children two years and older, teens, and adults with SMA, a one-time SMN1 gene replacement with reported motor benefits over 52 weeks.

Which Solid Biosciences program received designations, and what is unique about delivery? [5]

SGT-212 for Friedreich’s ataxia received FDA Rare Pediatric Disease and Fast Track. It uses dual-route administration, intradentate nucleus and IV, with Phase 1b screening underway.

What is LTS-101 and what FDA statuses apply? [6]

LTS-101 is an AAV gene therapy for CLN2 aiming for CNS TPP1 expression. FDA cleared the IND and granted Fast Track, Orphan Drug, and Rare Pediatric Disease designations.

What did EMA grant to Kedrion’s ACP therapy? [7]

Orphan Drug Designation for a plasma-derived ceruloplasmin treatment targeting congenital aceruloplasminemia, supporting EU clinical plans.

What are the terms of the Regeneron–Tessera AATD deal? [8]

$150M upfront and equity, up to $125M milestones, equal split of global costs and profits; Tessera leads first-in-human, Regeneron leads later stages.

What outcomes has Canada’s rare disease strategy reported so far? [2]

CORD cites provincial funding of at least 12 drugs covering nine conditions, with a push to expand early screening and real-world data infrastructure.

Entities / Keywords

Novartis; Itvisma; onasemnogene abeparvovec; SMA. CORD; Canada National Strategy for Drugs for Rare Diseases. EMD Serono; cladribine capsules; generalized myasthenia gravis; MyClad. Chiesi Rare Diseases; MetabERN; European Health Data Space. Solid Biosciences; SGT-212; Friedreich’s ataxia; frataxin. Latus Bio; LTS-101; CLN2; TPP1. Kedrion; ceruloplasmin; congenital aceruloplasminemia; EMA ODD. Regeneron; Tessera Therapeutics; TSRA-196; AATD; gene writing.