Rare Disease Video Recap—November 6, 2025

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

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Week 23–29 October 2025
Week 30 October– 5 November 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.

We start with Novartis–Avidity. On 26 Oct 2025, Novartis agreed to acquire Avidity Biosciences for 12 billion US dollars, adding late-stage antibody–oligonucleotide conjugate RNA programs in DM1, FSHD and DMD. Avidity’s early precision cardiology assets will move to a spin company, with closing targeted for the first half of 2026. Novartis also raised its 2024–2029 sales CAGR guidance from plus five percent to plus six percent, aiming for launches before 2030, signaling deeper investment in this modality and its neuroscience pipeline.

Next, European policy. On 27 Oct 2025, a Chiesi executive argued that fragmented registries and country-specific HTA demands slow access in rare and ultra-rare diseases. The op-ed calls for harmonised standards, interoperable infrastructure and swift European Health Data Space implementation to streamline evidence generation and accelerate equitable access.

In the United States, NORD unveiled the IAMRARE mobile companion app on 28 Oct 2025. IAMRARE already hosts over 70 natural history studies across 165 rare diseases, with prior publications and contribution to one approved therapy. The app aims to capture faster, higher-quality patient-reported data via phones, supporting research, screening, trial initiation and follow-up at scale.

Also on 28 Oct 2025, the European Commission approved Koselugo, selumetinib, for symptomatic, inoperable plexiform neurofibromas in adults with NF1. In the Phase 3 KOMET study, the objective response rate at cycle 16 was 20 percent versus 5 percent with placebo, and safety was consistent with paediatric experience.

Turning to the UK on 02 Nov 2025, the MHRA signaled a major rulebook overhaul for rare therapies. The paper outlines flexible pathways, stronger post-market surveillance and better evidence sharing through a Rare Disease Consortium. It explores a single early approval that would cover both clinical trial authorisation and marketing, paired with strict safety monitoring and periodic real-world evidence review. Collaboration funding is also in focus.

The ERDERA Networking Support Scheme, open since May 2025, offers up to 30 thousand euros per event for cross-border rare disease and rare cancer networking. Events must involve at least three eligible countries and can be in-person or hybrid, with emphasis on under-represented regions.

In regulatory updates for Fabry disease, on 03 Nov 2025 Chiesi and Protalix sought EMA re-examination after a CHMP negative opinion on adding every-4-weeks dosing for Elfabrio, pegunigalsidase alfa. The every-2-weeks regimen remains approved, and the marketing authorisation continues while the European Commission considers the re-examination outcome.

Finally, on 04 Nov 2025 the FDA approved UCB’s Kygevvi, the first therapy for TK2 deficiency. This oral solution is indicated for paediatric and adult patients with onset at or before 12 years. A European filing has been submitted, and early presented data cite survival and motor improvements, with payer and prescriber evaluations to follow as full evidence matures.

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Why it matters

Regulators in the UK and EU are testing flexible evidence and data-sharing frameworks tailored to ultra-small populations.
Patient-powered data capture and cross-border networks are scaling, improving real-world evidence for rare programs.
Strategic M&A and first-in-disease approvals highlight sustained investment and maturation of rare pipelines.

🗓️ Explore weekly details and sources

Week 23–29 October 2025
Week 30 October– 5 November 2025

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

FAQ

What does Novartis gain from the Avidity deal?

Late-stage AOC programs for DM1, FSHD and DMD plus a muscle-targeted RNA delivery platform. Close expected H1 2026, pending SpinCo separation and approvals.

What key MHRA change is on the table?

A potential single early approval that covers clinical trial authorization and marketing authorization, with strict safety monitoring and periodic real-world evidence review.

How does the ERDERA Networking Support Scheme work?

Up to €30k per event to support rare disease or rare cancer networking across at least three eligible countries, prioritizing inclusion of under-represented countries.

What evidence supported EU approval of Koselugo in adults?

KOMET Phase 3 showed 20% ORR vs 5% with placebo by cycle 16, with a safety profile consistent with paediatric experience.

What are Chiesi/Protalix seeking for Elfabrio?

An added 2 mg/kg every-4-weeks dosing in the EU following a CHMP negative opinion. The every-2-weeks regimen remains approved during re-examination.

Who is the IAMRARE app for and why does it matter?

Patients and caregivers enrolled in IAMRARE registries, to simplify and speed high-quality patient-reported data collection that can inform research and trials.

Entities / Keywords

Novartis; Avidity Biosciences; AOC RNA; DM1; FSHD; DMD; Chiesi; Protalix; Elfabrio (pegunigalsidase alfa); EMA/CHMP; Alexion; AstraZeneca; Koselugo (selumetinib); NF1 PN; MHRA; EHDS; EU HTA; ERDERA; NORD; IAMRARE; UCB; Kygevvi; TK2 deficiency.