Discover this week’s Rare Disease news, featuring EU regulatory opinions, orphan designations, policy guidance, registry funding calls, market analysis, and early AI gene-editing research.
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🧬 CHMP positive for Waskyra in WAS [1] [EU • 14 Nov 2025]
Key point: EMA’s CHMP recommended EU marketing authorization for Waskyra, an ex vivo gene therapy for Wiskott–Aldrich syndrome.
Context: Developed at SR-Tiget, to be offered at IRCCS Ospedale San Raffaele; US BLA remains under FDA review.
Implication: Introduces competition that may affect pricing and formulary access.
🧠 Profluent–RSRT team on AI base editors for Rett [2] [US • 18 Nov 2025]
Key point: Collaboration to design compact, potent base editors for recurrent MECP2 mutations, initially T158M, with aim to fit in single AAV.
Context: Personalization focus, leveraging Profluent AI and RSRT patient community.
Implication: Signals pipeline investment and modality expansion.
🧪 TROP2 ADC OBI-902 gets FDA orphan in cholangiocarcinoma [3] [US • 18 Nov 2025]
Key point: FDA granted orphan designation to OBI-902 for cholangiocarcinoma.
Context: GlycOBI platform ADC with topoisomerase I payload; ongoing Phase 1/2 across US and Taiwan.
Implication: Signals pipeline investment and modality expansion.
🧠 Tinostamustine wins FDA orphan for malignant glioma [4] [US • 13 Nov 2025]
https://www.curetoday.com/view/fda-grants-drug-designation-to-tinostamustine-for-malignant-glioma
Key point: FDA granted orphan designation to tinostamustine for malignant gliomas.
Context: Dual MOA alkylator plus pan-HDAC inhibitor; advancing in GBM AGILE adaptive platform.
Implication: Signals pipeline investment and modality expansion.
🇪🇺 ERNs publish first monitoring report [5] [EU • 17 Nov 2025]
https://ec.europa.eu/newsroom/sante/newsletter-archives/69204
Key point: European Reference Networks reported 160% growth in new patients referred over 6 years across 24 networks.
Context: 1,606 clinical centres in 375 hospitals; 24 indicators covering coordination, CPMS, registries, training, and guidelines.
Implication: May expand screening, initiation, and follow-up at scale.
💊 Analysts question Applied Therapeutics’ path on govorestat [6] [14 Nov 2025]
Key point: Analysts flagged limited cash and unresolved FDA issues on endpoints and pathophysiology for CMT-SORD program.
Context: Company seeking another Type C meeting; prior Phase 2/3 mixed results and NDA rejection in another indication noted.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.
📊 NORD opens RFP for 2 IAMRARE registries [7] [US • 14 Nov 2025]
https://www.prnewswire.com/news-releases/nord-launches-new-rfp-for-patient-registries-302615783.html
Key point: NORD invites nonprofit groups to apply for two new patient registries on IAMRARE, funded via RDCA-DAP.
Context: Apps open 15 Nov 2025 to 10 Jan 2026; build support includes IRB process, surveys, advisory boards.
Implication: May expand screening, initiation, and follow-up at scale.
🧾 FDA outlines “plausible mechanism pathway” [8] [US • 13 Nov 2025]
https://www.biospace.com/fda/fda-unwraps-plausible-mechanism-pathway-for-personalized-therapies
Key point: FDA leadership proposed a pathway for individualized therapies where RCTs are infeasible, requiring target biology, engagement, and serial patient success.
Context: NEJM article cites a bespoke CRISPR case; post-marketing RWE to confirm benefit and safety.
Implication: Signals pipeline investment and modality expansion.
Why it matters
- EU and US regulators continue to enable rare-disease modalities, from CHMP opinions to orphan designations [1][3][4].
- Infrastructure for rare diseases is scaling, with ERNs and new registry funding to enrich evidence generation [5][7].
- FDA’s proposed bespoke pathway could unlock gene editing for ultra-rare patients, altering approval strategies [8].
- Financing and endpoint selection remain gating factors for small biotechs in rare diseases [6].
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FAQ
What is Waskyra and where does it stand?
Waskyra is an ex vivo gene therapy for Wiskott–Aldrich syndrome with an EMA CHMP positive opinion in the EU, while the US BLA remains under FDA review [1].
How will Profluent and RSRT approach Rett syndrome?
They plan AI-designed, compact base editors for recurrent MECP2 mutations, targeting initial hot spots such as T158M and aiming for single-AAV delivery to the CNS [2].
Which oncology programs just received orphan designations?
OBI-902, a TROP2-targeting ADC, for cholangiocarcinoma [3], and tinostamustine for malignant gliomas, including glioblastoma, with development in the GBM AGILE platform [4].
What is new in FDA policy for individualized therapies?
The agency described a “plausible mechanism pathway” emphasizing defined disease biology, target engagement, and consecutive patient successes, followed by RWE commitments [8].
How is Europe coordinating rare-disease care?
European Reference Networks reported multi-year growth in referrals across 24 networks and 1,606 centres, with monitoring across coordination, CPMS, registries, and guidelines [5].
What support is available for rare-disease registries in the US?
NORD’s RFP will fund two IAMRARE registries starting April 2026, offering build, hosting, IRB, and data-sharing support tied to RDCA-DAP participation [7].
Entities / Keywords
Waskyra; Wiskott–Aldrich; SR-Tiget; EMA CHMP
Profluent; RSRT; Rett syndrome; MECP2; base editors
OBI-902; OBI Pharma; TROP2; ADC; cholangiocarcinoma
Tinostamustine; malignant glioma; GBM AGILE
European Reference Networks; CPMS; registries
Applied Therapeutics; govorestat; CMT-SORD
NORD; IAMRARE; RDCA-DAP
FDA plausible mechanism pathway; bespoke gene therapy
References
- https://www.fondazionetelethon.it/en/stories-and-news/news/from-telethon-foundation/fondazione-telethon-announces-chmp-positive-opinion-for-waskyra-a-gene-therapy-for-the-treatment-of-wiskott-aldrich-syndrome/
- https://www.biospace.com/press-releases/profluent-and-rsrt-partner-to-tackle-rett-syndrome-with-ai-designed-custom-genomic-medicines
- https://www.targetedonc.com/view/novel-trop2-targeting-adc-gains-fda-orphan-drug-status-in-cholangiocarcinoma
- https://www.curetoday.com/view/fda-grants-drug-designation-to-tinostamustine-for-malignant-glioma
- https://ec.europa.eu/newsroom/sante/newsletter-archives/69204
- https://www.fiercebiotech.com/biotech/analysts-question-if-applied-tx-can-ever-get-rare-disease-drug-market-fda-talks-drag
- https://www.prnewswire.com/news-releases/nord-launches-new-rfp-for-patient-registries-302615783.html
- https://www.biospace.com/fda/fda-unwraps-plausible-mechanism-pathway-for-personalized-therapies