Rare Disease Today—October 30, 2025

Explore this week’s Rare Diseases highlights, including new developments, pipeline updates, and progress from biopharma leaders.

In Today’s Newsletter

🧬 Novartis to acquire Avidity Biosciences for USD 12B [1] [26 Oct 2025]

https://www.novartis.com/news/media-releases/novartis-agrees-acquire-avidity-biosciences-innovator-rna-therapeutics-strengthening-its-late-stage-neuroscience-pipeline
Context: Agreement to buy Avidity after spinning off early-stage cardiology “SpinCo”; closes H1 2026 (subject to approvals).
Key point: Deal adds late-stage AOC programs in DM1, FSHD, DMD and a muscle-directed xRNA platform; Novartis lifts 2024–2029 sales CAGR guide to ~6%.
Implication: Partnerships/BD: Signals pipeline investment and modality expansion.

📉 RWE on HAE prophylaxis with berotralstat (sponsored) [2] [US • 27 Oct 2025]

https://www.fiercehealthcare.com/sponsored/real-world-evidence-showed-fewer-healthcare-visits-prophylactic-treatment-rare-disease
Context: BioCryst-sponsored retrospective analyses of ORLADEYO (berotralstat) in HAE (observational design).
Key point: Reported reductions in HAE attacks and healthcare visits after initiation (endpoint details attributed to sponsor).
Implication: Observational/RWE: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🏛️ EU health data harmonisation for rare diseases (op-ed) [3] [EU • 27 Oct 2025]

https://www.theparliamentmagazine.eu/partner/article/empowering-health-data-to-advance-rare-disease-research-in-europe
Context: Chiesi executive argues for aligned standards and EHDS implementation.
Key point: Calls for harmonised evidence frameworks to accelerate access and reduce duplication in rare disease registries.
Implication: Access programs: May expand screening, initiation, and follow-up at scale.

🩸 Hemab raises $157M series C for bleeding disorders push [4] [27 Oct 2025]

https://www.fiercebiotech.com/biotech/hemab-building-ultimate-clotting-company-streams-157m-series-c-programs-rare-bleeding
Context: Financing led by Sofinnova with new and existing investors; follows $135M series B (2023).
Key point: Funds advance sutacimig (GT prophylaxis, bispecific mimicking FVIIa) and HMB-002 (VWD prophylaxis) toward registration.
Implication: Partnerships/BD: Signals pipeline investment and modality expansion.

🧪 Daraxonrasib gets FDA orphan tag in pancreatic cancer [5] [US • 27 Oct 2025]

https://www.manilatimes.net/2025/10/27/tmt-newswire/globenewswire/revolution-medicines-rason-multi-selective-inhibitor-daraxonrasib-granted-us-fda-orphan-drug-designation-in-pancreatic-cancer/2209110
Context: Revolution Medicines’ RAS(ON) multi-selective inhibitor in global phase 3 (second-line PDAC), with additional phase 3s planned.
Key point: FDA grants orphan designation for pancreatic cancer, enabling incentives and potential exclusivity post-approval.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🧫 EMA orphan designation for siRNA RBD1016 in HDV [6] [EU • 24 Oct 2025]

https://themalaysianreserve.com/2025/10/24/ribo-granted-ema-orphan-drug-designation-for-sirna-therapeutic-rbd1016-for-hepatitis-delta-virus-hdv-infection/
Context: Ribo’s GalNAc-siRNA platform; RBD1016 in phase 2 for HDV.
Key point: EMA grants orphan designation for HDV infection, providing EU incentives.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🧯 Ofirnoflast earns FDA orphan designation in MDS [7] [US • 23 Oct 2025]

https://fox59.com/business/press-releases/cision/20251023LA05001/ofirnoflast-ht-6184-receives-orphan-drug-designation-from-u-s-fda-for-myelodysplastic-syndromes/
Context: Halia Therapeutics program targets NEK7 to modulate NLRP3 inflammasome.
Key point: FDA grants orphan designation for myelodysplastic syndromes, enabling tax credits, fee waivers, and potential exclusivity.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🏃 BridgeBio phase 3 in LGMD2I/R9 hits endpoints [8] [27 Oct 2025]

https://www.fiercebiotech.com/biotech/bridgebio-aces-phase-3-rare-disease-test-clearing-path-fda
Context: Randomized phase 3 of BBP-418 versus placebo, with interim analysis at 12 months.
Key point: Met primary and secondary endpoints, including αDG increase and CK reduction, with statistically significant functional gains.
Implication: Clinical topline/efficacy: May influence prescriber choice and payer reviews pending full data.

👶 EMA orphan designation for NEU-001 in Hirschsprung disease [9] [EU • 28 Oct 2025]

https://www.biospace.com/press-releases/the-ema-grants-orphan-drug-designation-to-neurenatis-neu-001-for-the-treatment-of-hirschsprung-disease
Context: Neurenati’s first-in-class, single-cycle intrarectal therapy aims to regenerate ENS in newborns; IND-enabling underway.
Key point: EMA grants orphan designation, adding incentives including potential market exclusivity.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🧬 OTL-200 gets Orphan Regenerative Medicine Product in Japan [10] [JP • 28 Oct 2025]

https://www.globenewswire.com/news-release/2025/10/28/3175097/0/en/Kyowa-Kirin-and-Orchard-Therapeutics-Announce-OTL-200-Granted-Orphan-Regenerative-Medicine-Product-Designation-for-Early-onset-MLD-in-Japan.html
Context: Atidarsagene autotemcel for early-onset MLD; Libmeldy/Lenmeldy approved in EU/US; Saudi Arabia grants ODD and Priority Review.
Key point: Japan MHLW grants Orphan Regenerative Medicine Product designation; local trial preparation underway.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

📱 NORD launches IAMRARE mobile app [11] [US • 28 Oct 2025]

https://www.prnewswire.com/news-releases/nord-unveils-iamrare-mobile-app-companion-to-iamrare-registry-platform-302597044.html
Context: Companion to IAMRARE registry platform supporting patient-powered natural history studies.
Key point: App aims to increase engagement and data quality via easier mobile participation and reminders.
Implication: Access programs: May expand screening, initiation, and follow-up at scale.

💊 EU approves Koselugo for adult NF1 PN [12] [EU • 28 Oct 2025]

https://www.astrazeneca.com/media-centre/press-releases/2025/koselugo-approved-in-the-eu-for-plexiform-neurofibromas-in-adults-with-neurofibromatosis-type-1.html
Context: KOMET phase 3 showed 20% ORR vs 5% placebo by cycle 16; safety aligned with paediatric use.
Key point: European Commission approves selumetinib for symptomatic, inoperable PN in adults with NF1.
Implication: Clinical topline/efficacy: May influence prescriber choice and payer reviews pending full data.

Why it matters

Cross-border: EU, US, Japan, and Saudi moves show accelerating, global rare-disease activity.
Modalities: RNA AOCs, siRNA, bispecifics, HSC gene therapy, and small molecules highlight modality diversification.
Data infrastructure: Calls for EHDS implementation and new patient-reported data tools may speed evidence generation.
Capital flows: Large M&A and financings continue to fund late-stage rare programs with near-term launch potential.
Regulatory incentives: Orphan and regenerative designations remain key levers for development and access.

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FAQ

What programs does Novartis gain from Avidity?

Late-stage AOC assets in DM1, FSHD, and DMD plus a muscle-targeted RNA delivery platform, per Novartis’ announcement [1].

Is berotralstat RWE generalisable to all HAE patients?

Findings are observational and sponsor-attributed without randomized controls, so interpretation depends on design and confounding control [2].

What is BridgeBio’s regulatory path for BBP-418?

The company plans FDA discussions and aims to file in the first half of next year based on biomarker and clinical improvements [8].

How does OTL-200 work and where is it approved?

Ex vivo autologous HSC gene therapy inserting functional ARSA; approved as Libmeldy in EU and Lenmeldy in the US, with new Japanese designation [10].

What does the EMA orphan tag do for NEU-001 and RBD1016?

Provides protocol assistance, fee reductions, and potential market exclusivity upon approval in the EU [6][9].

What changes for adult NF1 PN care in Europe with Koselugo?

EU approval enables an oral MEK inhibitor option for symptomatic, inoperable PN in adults, extending beyond paediatric use [12].

Entities / Keywords

Novartis; Avidity Biosciences; AOCs; DM1; FSHD; DMD; BioCryst; ORLADEYO; HAE; EHDS; Chiesi; Hemab Therapeutics; sutacimig; HMB-002; Revolution Medicines; daraxonrasib; PDAC; Ribo; RBD1016; HDV; Halia Therapeutics; ofirnoflast; MDS; BridgeBio; BBP-418; LGMD2I/R9; Neurenati; NEU-001; Hirschsprung disease; Kyowa Kirin; Orchard Therapeutics; OTL-200; MLD; NORD; IAMRARE; AstraZeneca; Alexion; Koselugo; selumetinib; NF1 PN.