Rare Disease Today—November 13, 2025

This week’s rare disease update spotlights key regulatory milestones, approvals, and designations shaping therapies for ultra-rare and inherited conditions.

In Today’s Newsletter

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🏛️ MHRA outlines faster UK pathway for rare disease therapies [1] [UK • 12 Nov 2025]

https://healthcaretoday.com/article/accelerating-rare-disease-treatment-approvals
Context: Paper proposes tackling small n and evidence barriers; explores single early approval for both CTA and marketing.
Key point: Early, conditional approvals would pair limited data with intensive safety monitoring and real-world evidence reviews.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

👁️ AAVantgarde raises $141M to push IRD gene therapies [2] [10 Nov 2025]

https://www.bioxconomy.com/investment/aavantgarde-banks-141m-series-b-to-advance-therapies-for-rare-eye-diseases
Context: Series B co-led by Schroders Capital and existing backers; adds Amgen Ventures and others.
Key point: Funds CELESTE PoC for AAVB-039 in Stargardt and LUCE Phase 1/2 for AAVB-081 in Usher 1B.
Implication: Signals pipeline investment and modality expansion.

👶 PolyActiva–RareSight team on pediatric retinal diseases [3] [07 Nov 2025]

https://www.ophthalmologytimes.com/view/polyactiva-and-raresight-partner-to-develop-treatments-for-rare-pediatric-retinal-diseases
Context: Collaboration leverages PREZIA biodegradable pro-drug implants for sustained retinal delivery.
Key point: Aim is first-in-class long-acting pharmacologic options where no approved drugs exist.
Implication: Signals pipeline investment and modality expansion.

🧫 Mirum showcases volixibat and maralixibat data at AASLD [4] [US • 07 Nov 2025]

https://www.theglobeandmail.com/investing/markets/stocks/MIRM-Q/pressreleases/35984127/mirum-pharmaceuticals-showcases-leadership-in-liver-disease-innovation-with-data-from-livmarli-and-volixibat-clinical-programs-at-aaslds-the-liver-meeting/
Context: Oral presentation on PBC fatigue and sleep from VANTAGE; multiple posters and real-world analyses.
Key point: Expands evidence base across PBC and cholestatic conditions, including real-world pruritus outcomes.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🧴 Quoin hits target rapamycin loadings, eyes 2026 trials [5] [US • 11 Nov 2025]

https://investors.quoinpharma.com/news-releases/news-release-details/quoin-pharmaceuticals-announces-achievement-topical-rapamycin
Context: 4% lotion and 5% patch formulations achieved for topical rapamycin platforms.
Key point: Plans clinical manufacturing now and first-half 2026 testing in microcystic lymphatic and venous malformations.
Implication: Signals pipeline investment and modality expansion.

🩸 Zydus gets US FDA ODD for desidustat in beta-thalassemia [6] [US • 06 Nov 2025]

https://mybigplunge.com/business/pharmaceutical-industry/zydus-receives-usfda-orphan-drug-designation-for-desidustat-in-beta-thalassemia-treatment/
Context: Oral HIF-PHI intended to boost hemoglobin and RBC production; preclinical data cited.
Key point: ODD confers incentives including fee waivers, tax credits, and potential exclusivity.
Implication: Introduces competition that may affect pricing and formulary access.

✅ FDA approves KYGEVVI for TK2 deficiency, first therapy for TK2d [7] [US • 07 Nov 2025]

https://www.prnewswire.com/news-releases/us-fda-approves-kygevvi-doxecitine-and-doxribtimine-the-first-and-only-treatment-for-adults-and-children-living-with-thymidine-kinase-2-deficiency-tk2d-302603083.html
Context: Approval based on one Phase 2, two retrospective reviews, and expanded access in patients with onset ≤12 years.
Key point: Reported ~86% reduction in risk of death from treatment start vs external controls; US launch expected Q1 2026.
Implication: May influence prescriber choice and payer reviews pending full data.

🏆 Servier wins Prix Galien for rare disease innovation [8] [07 Nov 2025]

https://oncodaily.com/voices/servier-pharmaceuticals-404310
Context: Company statements highlight recognition tied to rare and orphan drug work.
Key point: Award underscores commitment to IDH-mutant glioma and broader neuro-oncology programs.
Implication: Signals pipeline investment and modality expansion.

Why it matters

UK regulators are testing faster, evidence-adaptive routes for ultra-rare programs that could reshape timing and design strategies [1].
Ophthalmology R&D is accelerating across gene augmentation and long-acting delivery for underserved IRDs, including pediatrics [2][3].
Cholestatic liver disease pipelines continue to broaden beyond bile acid markers to patient-relevant outcomes like fatigue and pruritus [4].
US approvals and designations in ultra-rare and hematology reinforce incentives and market pathways for small-population diseases [6][7].

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FAQ

What is the MHRA proposing for rare diseases?

A concept of early, single approvals that cover both trial initiation and marketing using limited but compelling evidence plus strict safety and real-world monitoring, to reduce delays while maintaining safeguards [1].

Which IRD programs does AAVantgarde plan to fund with the Series B?

AAVB-039 for Stargardt disease in CELESTE and AAVB-081 for Usher 1B in LUCE, alongside natural history work to support PoC and design [2].

How will PolyActiva and RareSight’s approach work for pediatric retinal disease?

PREZIA polymer pro-drugs aim for sustained, customizable delivery directly to the retina, biodegradable for repeat dosing without residue, addressing conditions lacking approved drugs [3].

What did Mirum present at AASLD?

An oral VANTAGE analysis in PBC on fatigue and sleep and multiple posters on maralixibat real-world use and cholestasis genetics, expanding evidence across rare cholestatic settings [4].

What is KYGEVVI indicated for and what evidence supported approval?

For TK2 deficiency with symptom onset on or before 12 years; supported by a Phase 2, retrospective analyses, and expanded access, with an external control–based survival benefit reported [7].

What does ODD for desidustat mean for beta-thalassemia?

It grants development incentives in the US as Zydus advances an oral HIF-PHI that may reduce transfusion burden, pending clinical validation [6].

Entities / Keywords

MHRA; rare disease reform; early single approval; real-world evidence; AAVantgarde Bio; Stargardt; Usher 1B; AAVB-039; AAVB-081; PolyActiva; RareSight; PREZIA; pediatric retinal disease; Mirum Pharmaceuticals; volixibat; maralixibat; PBC; cholestasis; Quoin Pharmaceuticals; topical rapamycin; microcystic lymphatic malformations; venous malformations; Zydus Lifesciences; desidustat; HIF-PHI; beta-thalassemia; UCB; KYGEVVI; TK2 deficiency; Servier; Prix Galien; IDH-mutant glioma.