Rare Disease Video Recap—January 15, 2026

This Rare Disease Video Recap highlights major regulatory decisions and late-stage developments , including new therapy approvals, regulatory setbacks, and pipeline milestones. The news spans metabolic, hematologic, endocrine, and ultra-rare pediatric conditions, with implications for access, pricing, and clinical practice.

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Transcript

Welcome to the latest edition of Rare Diseases Updates, covering recent breakthroughs in the field. Brought to you by LucidQuest.

First, Health Canada approved Elfabrio, pegunigalsidase alfa enzyme replacement therapy for adults with Fabry disease. Prior approvals exist in the United States, European Union, and United Kingdom, supported by Phase 3 BRIDGE, BALANCE, and BRIGHT with more than 140 participants. Regulators deemed it safe and effective, offering another ERT option that could shape pricing and formulary access.

Next, the FDA issued a complete response letter for Corcept’s relacorilant for hypertension due to hypercortisolism. The agency requested additional efficacy evidence. GRACE met its blood pressure endpoint, while GRADIENT missed its primary endpoint but showed secondary benefits. Corcept will discuss next steps with the FDA, and prescriber and payer decisions may pause pending full data.

In Europe, Sanofi’s Wayrilz, rilzabrutinib, gained approval for adult immune thrombocytopenia. This oral, reversible BTK inhibitor achieved primary and secondary endpoints in LUNA 3, with durable platelet responses and quality of life improvements. It is the first BTK inhibitor approved for ITP in the EU, with expedited and orphan designations noted across regions, which may influence treatment selection and reimbursement.

Pfizer reported a fatal thrombotic stroke in an open-label extension study of Hympavzi in hemophilia A with inhibitors after minor surgery. Causality is under investigation by the sponsor and the independent data monitoring committee, and regulators have been notified. Pfizer does not anticipate a change to the safety profile for approved uses, though the event may factor into clinical and payer discussions.

The FDA issued a complete response letter for Atara’s tabelecleucel in EBV-positive post-transplant lymphoproliferative disorder, stating the ALLELE study is not adequate for accelerated approval due to interpretability concerns related to design, conduct, and analysis. The company notes this differs from prior guidance. Ebvallo remains approved in the EU.

Palvella outlined 2026 milestones for the QTORIN platform. The Phase 3 SELVA study in microcystic lymphatic malformations is fully enrolled at 51 participants, with topline data expected in March 2026 and a potential NDA in the second half of 2026 if positive. After a positive Phase 2 in cutaneous venous malformations, FDA interactions are planned in the first quarter of 2026, and additional Phase 2 studies are slated for the second half.

Agios set 2026 priorities. AQVESME, mitapivat, received U.S. approval in December 2025 for anemia in alpha- or beta-thalassemia, with REMS implementation and launch underway. A pre-supplemental NDA meeting for sickle cell disease is planned for the first quarter of 2026, and multiple 2026 readouts are expected for tebapivat and AG-236, which could guide broader portfolio growth.

Finally, the FDA approved ZYCUBO, copper histidinate, the first U.S. therapy for pediatric Menkes disease. The decision, which includes Breakthrough, Fast Track, Rare Pediatric Disease, and Orphan designations, was supported by a survival benefit versus an external contemporaneous control. The label notes common systemic and infection-related adverse events. This milestone may reset payer expectations and access pathways in Menkes disease.

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Why it matters

Rare-disease regulatory bar is dynamic, with multiple CRLs highlighting dataset rigor and interpretability needs.
First-in-class approvals in narrow populations (Wayrilz in ITP, ZYCUBO in Menkes) can reset standards of care and reimbursement debates.
Cross-market ERT competition in Fabry may pressure pricing while broadening access.
High-profile safety events, even without established causality, can influence monitoring, labeling, and clinician comfort.
Late-stage specialty platforms (QTORIN) concentrate near-term catalysts that could shape 2026 pipelines.

🗓️ Explore weekly details and sources

Weeks 19 December 2025 – 7 January 2026
Week 8–14 January 2026

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

FAQ

What did Health Canada approve for Fabry disease?

Elfabrio (pegunigalsidase alfa) ERT for adults, supported by Phase 3 trials showing safety and effectiveness, adding to existing US and EU approvals [1].

Why was Corcept’s relacorilant not approved?

FDA issued a CRL requesting more efficacy evidence. While GRACE met a BP endpoint, GRADIENT missed its primary endpoint; the application was not approvable as filed [2].

What differentiates Sanofi’s Wayrilz in ITP?

Rilzabrutinib is an oral, reversible BTK inhibitor with LUNA 3 data showing durable platelet responses and QoL gains versus placebo in adults with persistent or chronic ITP [3].

What is known about the Hympavzi study death?

An open-label extension participant died from a thrombotic stroke after minor surgery. Causality is under investigation, and regulators were notified; Pfizer reports no anticipated safety impact for approved use populations at this time [4].

What changed in Atara’s tabelecleucel review?

FDA now considers ALLELE not adequate for accelerated approval, citing confounding from design, conduct, and analysis, which the company says contrasts with earlier guidance [5].

What is ZYCUBO’s indication?

Treatment of Menkes disease in pediatric patients, not indicated for Occipital Horn Syndrome, with approval supported by improved survival versus an external control cohort [8].

Entities / Keywords

Elfabrio; pegunigalsidase alfa; Chiesi; Fabry disease; relacorilant; Corcept; Cushing’s syndrome; hypertension secondary to hypercortisolism; Wayrilz; rilzabrutinib; BTK inhibitor; ITP; Pfizer; Hympavzi; marstacimab; thrombotic stroke; Atara; tabelecleucel; EBV+ PTLD; Palvella; QTORIN rapamycin; microcystic lymphatic malformations; cutaneous venous malformations; Agios; AQVESME; mitapivat; thalassemia; sickle cell disease; ZYCUBO; copper histidinate; Menkes disease.