Rare Diseases Today—May 28, 2026

This week’s Rare Diseases update highlights regulatory progress, late-stage clinical data, safety oversight changes, and expanding access pathways across hematology and genetic disorders.

In Today’s Newsletter

Dive deeper

💊 Lynozyfic Phase 1/2 systemic AL amyloidosis data [1] [US • 21 May 2026]

https://investor.regeneron.com/news-releases/news-release-details/lynozyficr-linvoseltamab-monotherapy-demonstrates-deep-and-rapid
Context: Regeneron reported preliminary Phase 1/2 LINKER-AL2 data for Lynozyfic (linvoseltamab; BCMAxCD3 bispecific) in second-line-plus systemic AL amyloidosis.
Key point: All treated patients had hematologic responses; the 240 mg cohort reached hematologic complete response in all patients reported.
Implication: May influence prescriber choice and payer reviews pending full data.

🩸 PYRUKYND EU thalassemia approval [2] [EU • 22 May 2026]

https://investor.agios.com/news-releases/news-release-details/agios-pyrukyndr-mitapivat-approved-european-union-adults
Context: Agios said the EC approval covers PYRUKYND (mitapivat; oral PK activator) for adults with anemia associated with transfusion-dependent and non-transfusion-dependent alpha- or beta-thalassemia.
Key point: The decision was based on the ENERGIZE and ENERGIZE-T Phase 3 trials.
Implication: Introduces competition that may affect pricing and formulary access.

🧬 MHRA rare disease framework consultation [3] [UK • 21 May 2026]

https://pharmaceutical-journal.com/article/news/mhra-asks-for-views-on-rare-disease-therapy-plans
Context: The MHRA opened views on a proposed Rare disease therapies regulatory framework, with consultation closing 20 Jul 2026.
Key point: The proposal includes a compressed pathway and investigational marketing authorisation for eligible ultra-rare conditions.
Implication: May expand screening, initiation, and follow-up at scale.

⚠️ Tavneos Japan label update and restart [4] [Japan • 21 May 2026]

https://www.fiercepharma.com/pharma/amgens-tavneos-facing-liver-injury-scrutiny-gets-label-update-patient-starts-resume-japan
Context: Kissei and Japan’s MHLW updated Tavneos (avacopan; Amgen/Kissei) precautions after reported serious liver injury cases.
Key point: New patient starts resumed in Japan with warnings, liver monitoring recommendations, and treatment-stop criteria.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🧫 Elfabrio Korea approval for Fabry disease [5] [Korea • 22 May 2026]

https://www.koreabiomed.com/news/articleView.html?idxno=31771
Context: Kwangdong Pharmaceutical received MFDS approval for Elfabrio (pegunigalsidase alfa; Chiesi) in adult Fabry disease.
Key point: The company said Elfabrio is Korea’s first Fabry disease treatment using a plant cell-derived recombinant protein platform.
Implication: Introduces competition that may affect pricing and formulary access.

👶 Infliximab EU orphan designation in Kawasaki disease [6] [EU • 22 May 2026]

https://www.manilatimes.net/2026/05/22/tmt-newswire/globenewswire/oddifact-receives-european-commission-orphan-drug-designation-for-infliximab-in-kawasaki-disease/2349598
Context: ODDIFACT received European Commission orphan drug designation for infliximab in Kawasaki disease.
Key point: The source cites prior FDA orphan designation and KIDCARE Phase 3 evidence in IVIG-resistant Kawasaki disease.
Implication: Signals pipeline investment and modality expansion.

Why it matters

Rare disease regulation stayed active, with MHRA proposing earlier access pathways and EC designations supporting repurposed therapies.
Hematology and genetic disease pipelines advanced across systemic AL amyloidosis, thalassemia, Fabry disease, and Kawasaki disease.
Safety oversight remained central, especially for Tavneos in Japan and broader liver injury scrutiny.
Commercial access may shift as EU, Korea, and Japan decisions affect launch planning, monitoring, and formulary review.

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

🚀 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.

FAQ

What is Lynozyfic being tested for by Regeneron?

Lynozyfic (linvoseltamab) is being evaluated in second-line-plus systemic AL amyloidosis in LINKER-AL2. Regeneron said Phase 2 with registrational intent is ongoing. [1]

What did the EU approve for Agios?

The European Commission approved PYRUKYND (mitapivat) for adults with anemia associated with transfusion-dependent and non-transfusion-dependent alpha- or beta-thalassemia. [2]

What is the MHRA proposing for rare disease therapies?

The MHRA proposed a compressed regulatory framework, including investigational marketing authorisation, for eligible rare disease therapies. Consultation closes 20 Jul 2026. [3]

What changed for Tavneos in Japan?

Tavneos prescribing to new patients resumed in Japan, with updated precautions on serious liver injury, liver monitoring, and treatment stopping criteria. [4]

Who is behind Elfabrio in Korea?

Kwangdong Pharmaceutical received Korean approval for Elfabrio, under a domestic sales and distribution agreement with Chiesi Farmaceutici. [5]

Why does ODDIFACT’s infliximab designation matter?

It gives infliximab EU orphan drug designation for Kawasaki disease, following prior FDA orphan designation for the same indication. [6]

Entities / Keywords

Regeneron Pharmaceuticals, Lynozyfic, linvoseltamab, BCMAxCD3, LINKER-AL2, systemic AL amyloidosis
Agios Pharmaceuticals, PYRUKYND, mitapivat, AQVESME, thalassemia, ENERGIZE, ENERGIZE-T
MHRA, NICE, Rare disease therapies regulatory framework, investigational marketing authorisation
Amgen, Kissei Pharmaceutical, Tavneos, avacopan, ANCA-associated vasculitis, AAV, liver injury
Kwangdong Pharmaceutical, Chiesi Farmaceutici, Elfabrio, pegunigalsidase alfa, Fabry disease
ODDIFACT, infliximab, Kawasaki disease, EMA, COMP, FDA orphan drug designation, KIDCARE