Rare Disease Video Recap—November 20, 2025

This biweekly Rare Disease Video Recap covers regulatory reforms, approvals and designations, patient-registry funding, and evidence pathways for bespoke therapies—plus more.

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Top Stories Covered In This Video

Chapters

0:00 Introduction
0:08 MHRA proposes early, single approval covering CTA and marketing for rare diseases, with strict safety monitoring and RWE reviews 0:35 Zydus: FDA orphan drug designation for desidustat (oral HIF-PHI) in beta-thalassemia
0:58 UCB: FDA approves KYGEVVI for TK2 deficiency with onset ≤12 years, showing ~86% lower risk of death vs matched controls
1:28 Fondazione Telethon: EMA CHMP positive opinion for Waskyra ex vivo gene therapy in Wiskott–Aldrich syndrome
1:52 OBI Pharma: FDA orphan designation for TROP2-targeting ADC OBI-902 in cholangiocarcinoma
2:12 Purdue Pharma: FDA orphan designation for tinostamustine in malignant gliomas, advancing in GBM AGILE
2:28 NORD: RFP launched to fund two IAMRARE patient registries via RDCA-DAP starting April 2026
2:52 FDA leadership outlines “plausible mechanism pathway” enabling bespoke therapies when RCTs are infeasible, with post-marketing RWE
3:12 How to reach us

Why it matters

Regulators in the UK, EU, and US are enabling faster routes for rare and ultra-rare therapies, from MHRA proposals to CHMP opinions and US approvals/designations [1][3][4][5][6].
FDA’s bespoke pathway concept could accelerate gene editing and other individualized modalities while relying on platform and RWE commitments [8].
Registry infrastructure funding aims to strengthen natural history evidence, endpoint development, and access planning for small populations [7].

🗓️ Explore weekly details and sources

Week 6–12 November 2025
Week 13–19 November 2025

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

FAQ

What did the MHRA actually propose for rare diseases?

Guidance to reduce delays by considering early single approvals that cover both trial setup and conditional marketing, paired with strict safety monitoring and periodic RWE review, with a full framework expected next year [1].

What is KYGEVVI and who can receive it?

KYGEVVI is an oral combination (doxecitine+doxribtimine) approved in the US for TK2 deficiency with symptom onset on or before 12 years; supporting data indicated a reduced risk of death vs matched untreated controls [3].

What is Waskyra’s EU status?

Waskyra, an ex vivo gene therapy for Wiskott–Aldrich syndrome, received a CHMP positive opinion recommending EU marketing authorisation; the US BLA remains under review [4].

Which oncology assets received orphan designation this week?

OBI-902, a TROP2-targeting ADC for cholangiocarcinoma [5], and tinostamustine for malignant gliomas, including GBM within the GBM AGILE platform [6].

How can patient groups access registry support?

NORD’s RFP will fund two IAMRARE registries starting April 2026, providing build, hosting, IRB, and governance support, with applications open 15 Nov 2025 to 10 Jan 2026 [7].

What evidence is needed for FDA’s “plausible mechanism pathway”?

A defined disease mechanism, a therapy that targets it, proof of target engagement, signs of clinical improvement, and success across several consecutive individualized cases, followed by post-marketing RWE collection [8].

Entities / Keywords

MHRA; UK accelerated approvals; real-world evidence | KYGEVVI; thymidine kinase 2 deficiency; UCB | Waskyra; Wiskott–Aldrich; SR-Tiget; CHMP | Zydus; desidustat; beta-thalassemia; HIF-PHI | OBI-902; TROP2; ADC; cholangiocarcinoma | Tinostamustine; malignant glioma; GBM AGILE | NORD; IAMRARE; RDCA-DAP | FDA plausible mechanism pathway; bespoke gene therapy.