Rare Disease Today—November 6, 2025

This week’s Rare Disease Update covers pivotal rare-disease developments and regulatory milestones, with added context on their significance.

In Today’s Newsletter

Dive deeper

🏛️ MHRA flags major UK rulebook overhaul for rare therapies [1] [UK • 02 Nov 2025]

https://www.gov.uk/government/news/major-change-for-rare-disease-treatments-on-way-signals-mhra
Context: Aims to tackle small cohorts and evidence constraints, with a Rare Disease Consortium across NHS, academia, industry and patient groups.
Key point: Paper outlines options like single early approval covering trial and marketing with stringent safety monitoring and RWE review.
Implication: May expand screening, initiation, and follow-up at scale.

🇨🇳 AstraZeneca’s Alexion praises China’s rare-disease progress [2] [CN • 05 Nov 2025]

https://www.chinadaily.com.cn/a/202511/05/WS690aab03a310f215074b90cd.html
Context: Ties to Healthy China 2030, growing clinical trials footprint and new Beijing R&D center investment.
Key point: Executive cites wider catalog coverage, insurance inclusion for nearly 100 therapies, and 400+ designated hospitals.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🤝 ERDERA Networking Support Scheme opens rare disease networking grants [3] [30 Oct 2025]

https://www2.fundsforngos.org/latest-grants-and-resources-for-research/networking-support-scheme-for-rare-disease-and-rare-cancer-collaboration/amp/
Context: Open since May 2025, for clinicians, researchers and PAOs; requires ≥3 eligible countries, in-person or hybrid.
Key point: Up to €30,000 per event for transnational networking to boost knowledge sharing and inclusion of underrepresented countries.
Implication: Signals pipeline investment and modality expansion.

💉 Chiesi/Protalix seek EMA re-examination on Elfabrio every-4-weeks dosing [4] [EU • 03 Nov 2025]

https://www.globenewswire.com/news-release/2025/11/03/3179856/0/en/Chiesi-Global-Rare-Diseases-and-Protalix-BioTherapeutics-Seek-Re-examination-from-the-EMA-for-the-Negative-Opinion-for-Elfabrio-pegunigalsidase-alfa-Alternative-Dosing-Regimen-of-E.html
Context: Marketing authorization remains in effect pending EC decision post re-examination.
Key point: Companies request re-exam after CHMP negative opinion on E4W regimen; existing E2W regimen remains approved.
Implication: Introduces competition that may affect pricing and formulary access.

🧬 UCB wins first FDA approval for TK2 deficiency, Kygevvi [5] [US • 04 Nov 2025]

https://pharmaphorum.com/news/ucb-bags-fda-okay-first-drug-treat-rare-disease-tk2d
Context: Article references survival and motor function improvements from presented data; EU filing underway.
Key point: FDA approves Kygevvi, an oral solution for paediatric and adult TK2d with symptom onset ≤12 years.
Implication: May influence prescriber choice and payer reviews pending full data.

🧒 Take Part Foundation launches “Warrior Profiles” for rare kids [6] [US • 03 Nov 2025]

https://fox2now.com/business/press-releases/ein-presswire/861982257/take-part-foundation-launches-storytelling-platform-to-champion-children-with-rare-diseases/
Context: St. Louis nonprofit cites HIPAA-compliant platform and use in emergency contexts.
Key point: Free, parent-controlled pages centralize medical history to aid care coordination and research connections.
Implication: May expand screening, initiation, and follow-up at scale.

📈 Report: US orphan drug market >US$190B by 2030 [7] [31 Oct 2025]

https://www.globenewswire.com/news-release/2025/10/31/3178205/0/en/Kuick-Research-Releases-Landmark-Study-On-US-Orphan-Drug-Rare-Disease-Market-Highlighting-Investment-And-Innovation-Opportunities-Through-2030.html
Context: Frames policy drivers under the Orphan Drug Act and examples of scaled revenue trajectories.
Key point: Study maps >1,000 designated orphan drugs, >500 marketed, and >850 in trials, highlighting pricing and sales trends.
Implication: Signals pipeline investment and modality expansion.

🧪 Dewpoint gets FDA orphan designation for DPTX3186 in gastric cancer [8] [US • 30 Oct 2025]

https://www.worldpharmaceuticals.net/news/dewpoint-receives-fda-orphan-drug-designation-for-dptx3186/?cf-view
Context: ODD confers fee waivers, tax credits and 7-year exclusivity upon approval. First patient dosing anticipated in 2025.
Key point: Oral condensate modulator targets Wnt/β-catenin via β-catenin redistribution; first-in-human program underway.
Implication: Introduces competition that may affect pricing and formulary access.

🌬️ Calluna Pharma gets FDA orphan designation for CAL101 in IPF [9] [US • 31 Oct 2025]

https://www.businesswire.com/news/home/20251031655764/en/Calluna-Pharma-Announces-U.S.-FDA-Orphan-Drug-Designation-Granted-to-CAL101-for-the-Treatment-of-Idiopathic-Pulmonary-Fibrosis-IPF
Context: ODD provides potential expedited pathways, tax credits, fee waivers and market exclusivity after approval.
Key point: CAL101, an anti-S100A4 mAb, is in Phase 2 AURORA trial with ~150 patients across global sites.
Implication: Introduces competition that may affect pricing and formulary access.

Why it matters

UK and EU moves show regulators testing flexible tools for ultra-small populations, with safety anchored in RWE.
China’s build-out of coverage and centers signals a larger market and trial base for rare therapies.
US activity spans first-in-class approvals and ODDs, reinforcing the orphan pathway as a growth engine.
Grassroots digital tools can reduce care friction for rare families and improve data liquidity.
Cross-border networking grants may widen participation from underrepresented countries and PAOs.

🚀 Accelerate your success. Contact us now

📂 Explore our case studies. See examples of our work.

💡 Read our insights. Learn from our latest reports and analysis

🎬 Watch on YouTube. Subscribe and never miss a video.

🧰 See our full range of services. Discover how we can help you.

📚 See the full Rare Disease archive on our research hub page

FAQ

What specific change is MHRA considering for rare therapies? [1]

The paper explores a single early approval covering both clinical trial authorization and marketing authorization based on limited but compelling evidence, with strict safety monitoring and periodic RWE review.

What did UCB receive approval for, and who is eligible? [5]

FDA approved Kygevvi, an oral solution for thymidine kinase 2 deficiency. It covers paediatric and adult patients with symptom onset at or before age 12, per the article.

Why are Chiesi and Protalix seeking re-examination? [4]

After a negative CHMP opinion on adding every-4-weeks dosing for Elfabrio, they requested re-examination. The every-2-weeks regimen remains approved in the EU.

Who can apply to ERDERA’s Networking Support Scheme, and what’s funded? [3]

Researchers, clinicians, managers and PAO representatives in participating countries can apply for up to €30,000 per event. Events must involve at least three eligible countries and focus on rare disease or rare cancer research networking.

What benefits come with US FDA orphan designation noted here? [8][9]

ODD may provide tax credits, fee waivers, FDA support and 7-year US market exclusivity after approval. Dewpoint’s DPTX3186 and Calluna’s CAL101 both received ODD.

What is the US orphan drug market outlook per Kuick Research? [7]

The study estimates an opportunity above US$190B by 2030 and catalogs >1,000 designated orphan drugs, with >500 marketed and >850 in trials, based on compiled regulatory and company data.

Entities / Keywords

MHRA; Rare Disease Consortium; RWE; Alexion (AstraZeneca); Healthy China 2030; ERDERA NSS; Chiesi; Protalix; Elfabrio (pegunigalsidase alfa); EMA/CHMP; UCB; Kygevvi; TK2 deficiency; Take Part Foundation; Warrior Profiles; Kuick Research; Orphan Drug Act; Dewpoint Therapeutics; DPTX3186; Wnt/β-catenin; Calluna Pharma; CAL101; S100A4; IPF.