Rare Disease Today—January 8, 2026

This rare disease update covers major regulatory approvals, strategic acquisitions, partnership deals, and clinical trial outcomes across the rare disease landscape. It reflects both expansion of patient access and notable pipeline setbacks shaping future development priorities.

In Today’s Newsletter

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🧬 Center for Genetic Surgery aims to cut bespoke gene-editing costs [1] [26 Dec 2025]

https://www.japantimes.co.jp/news/2025/12/26/world/science-health/gene-editing-superstars/

Context: Broad-affiliated nonprofit with partners Beam, Prime, Boston Children’s, Jackson Lab, N=1 Collaborative.

Key point: New pathway unites stakeholders to make patient-specific editing simpler, faster, cheaper; aligns with recent FDA flexibility for individualized edits.

Implication: May expand screening, initiation, and follow-up at scale.

🤝 Italfarmaco licenses givinostat to JCR in Japan, adds broader tie-up [2] [Japan • 24 Dec 2025]

https://www.businesswire.com/news/home/20251223789271/en/Italfarmaco-and-JCR-Pharmaceuticals-Announce-Commercialisation-Agreement-for-Givinostat-in-Japan-and-Strategic-Collaboration-in-Rare-Disease

Context: Givinostat (Duvyzat) approved in US, EU, UK for DMD; not yet approved in Japan.

Key point: JCR gets exclusive Japan rights and leads local development and filings; parties explore additional rare-disease opportunities.

Implication: Signals pipeline investment and modality expansion.

🍁 Health Canada okays Elfabrio for Fabry adults [3] [Canada • 18 Dec 2025]

https://fabrydiseasenews.com/news/canada-approves-ert-elfabrio-adults-fabry-disease/

Context: ERT given Q2W; approvals elsewhere include US, EU, UK; backed by BRIDGE, BALANCE, BRIGHT phase 3s.

Key point: Approval provides another ERT option, with safety profile consistent with prior studies.

Implication: May influence prescriber choice and payer reviews pending full data.

🦴 Ipsen ends Phase II FALKON in FOP after miss [11] [19 Dec 2025]

https://www.globenewswire.com/news-release/2025/12/19/3208286/0/en/Ipsen-update-on-Phase-II-FALKON-trial-in-patients-with-ultra-rare-bone-disease-fibrodysplasia-ossificans-progressiva-FOP.html

Context: Fidrisertib in 113 adults and children; heterotopic ossification reduction primary endpoint.

Key point: Trial did not meet primary endpoint; study to close; no new safety concerns reported.

Implication: May influence prescriber choice and payer reviews pending full data.

♟️ BioMarin to acquire Amicus for $4.8B [5] [19 Dec 2025]

https://www.fiercepharma.com/pharma/biomarin-pulls-rare-disease-marriage-48b-buyout-amicus

Context: Adds Galafold (Fabry) and Pombiliti-Opfolda (Pompe), plus US rights to DMX-200 (FSGS, phase 3).

Key point: Largest deal in BioMarin history; aims to accelerate revenue growth via established rare-disease footprint.

Implication: Signals pipeline investment and modality expansion.

🫁 EMA grants ODD to Sanofi’s efdoralprin alfa for AATD emphysema [6] [EU • 18 Dec 2025]

https://finance.yahoo.com/news/snys-rare-disease-drug-efdoralprin-155100823.html

Context: Recombinant AAT-Fc fusion; phase 2 ElevAATe showed higher functional AAT vs weekly plasma therapy.

Key point: Orphan designation supports development for adult AATD emphysema; previously received US Fast Track and ODD.

Implication: Signals pipeline investment and modality expansion.

❌ FDA issues CRL for Corcept’s relacorilant in Cushing’s-related hypertension [7] [US • 23 Dec 2025]

https://pharmaphorum.com/news/fda-declines-approve-corcepts-rare-disorder-drug

Context: Filing supported by GRACE (blood pressure improvements) and GRADIENT (primary endpoint miss; secondary benefits).

Key point: FDA declines approval, requests additional efficacy evidence.

Implication: May influence prescriber choice and payer reviews pending full data.

💼 Shionogi to acquire global RADICAVA business from Tanabe Pharma [8] [Japan/US • 22 Dec 2025]

https://www.businesswire.com/news/home/20251222601007/en/Shionogi-Expands-Rare-Disease-Presence-with-Planned-Acquisition-of-Global-Rights-to-Tanabe-Pharma-Corporations-RADICAVA-ORS-edaravone-and-IV-RADICAVA

Context: RADICAVA ORS/IV approved for ALS; >20,000 US patients treated; purchase price USD 2.5B.

Key point: Establishes US rare-disease commercial platform ahead of future launches in Fragile X, Jordan’s syndrome, Pompe.

Implication: Signals pipeline investment and modality expansion.

🧪 Nido Biosciences to wind down after SBMA phase 2 disappointment [9] [US • 02 Jan 2026]

https://www.fiercebiotech.com/biotech/neuro-biotech-nido-closes-after-phase-2-study-fails-move-needle-rare-disease

Context: NIDO-361 in Kennedy’s disease (SBMA) failed to deliver; company founded 2020 with $109M backing.

Key point: Closure expected in early 2026; limited staff impacted per company comments.

Implication: Signals pipeline investment and modality expansion.

🌍 Zevra inks Uniphar deal to expand access to MIPLYFFA in NPC outside Europe [10] [29 Dec 2025]

https://www.globenewswire.com/news-release/2025/12/29/3210870/0/en/Zevra-Therapeutics-Executes-Distribution-Agreement-to-Broaden-Access-to-MIPLYFFA-for-the-Treatment-of-Niemann-Pick-Disease-Type-C-NPC.html

Context: MIPLYFFA (arimoclomol) approved in US; EMA review ongoing; agreement enables reimbursed named-patient supply in select territories.

Key point: Uniphar to provide warehousing, distribution, and supply chain services.

Implication: May expand screening, initiation, and follow-up at scale.

🩸 EU approves Sanofi’s Wayrilz for ITP, first BTK inhibitor in the setting [12] [EU • 23 Dec 2025]

https://www.sanofi.com/en/media-room/press-releases/2025/2025-12-23-14-06-58-3209943

Context: LUNA 3 phase 3 met primary and secondary endpoints, including durable platelet response and QoL measures.

Key point: Oral, reversible BTK inhibitor approved for refractory adult ITP after other treatments.

Implication: May influence prescriber choice and payer reviews pending full data.

🧵 Pfizer reports death in Hympavzi (marstacimab) OLE study [13] [23 Dec 2025]

https://www.fiercepharma.com/pharma/pfizer-confirms-patient-death-hympavzi-hemophilia-extension-study

Context: Fatal thrombotic stroke post minor surgery in hemophilia A patient with active inhibitors; ongoing information-gathering.

Key point: Pfizer does not anticipate impact to safety for approved marstacimab use; regulators informed.

Implication: May influence prescriber choice and payer reviews pending full data.

🏥 PANTHERx Rare to exclusively dispense VOYXACT for IgAN in US [14] [US • 18 Dec 2025]

https://www.prnewswire.com/news-releases/pantherx-rare-selected-by-otsuka-to-dispense-voyxact-sibeprenlimab-szsi-for-the-treatment-of-primary-immunoglobulin-a-nephropathy-302645575.html

Context: VOYXACT (sibeprenlimab-szsi) is an APRIL blocker approved under accelerated approval to reduce proteinuria; long-term eGFR effect not established.

Key point: Otsuka names PANTHERx as exclusive specialty pharmacy partner.

Implication: DTC/telehealth: Could streamline initiation and adherence via remote prescribing and logistics.

🇰🇷 Korea approves Roche’s Piascai for PNH, including first pediatric nod [15] [Korea • 24 Dec 2025]

https://biz.chosun.com/en/en-science/2025/12/24/XGP7LM7ESRGR5AYY5G6YLLNEZE/

Context: Complement-mediated hemolysis inhibitor for PNH; approval covers ≥12 years, ≥40 kg.

Key point: First pediatric approval in Korea for this rare hemolytic disorder, per MFDS briefing.

Implication: May influence prescriber choice and payer reviews pending full data.

🇰🇷 Korea moves to cut costs and speed access for rare and intractable diseases [16] [Korea • 05 Jan 2026]

https://www.koreabiomed.com/news/articleViewAmp.html?idxno=30184

Context: MOHW plan includes copay reductions, streamlined re-registration, faster reimbursement listings, emergency imports, and regional centers.

Key point: Target of insurance listing within 100 days for rare-disease drugs, with expanded genetic testing and supply safeguards.

Implication: May expand screening, initiation, and follow-up at scale.

🧫 FDA grants ODD to Cellenkos’ CK0804 Tregs for myelofibrosis [17] [US • 06 Jan 2026]

https://www.streetinsider.com/PRNewswire/FDA+Grants+Orphan+Drug+Designation+to+Cellenkos%27+CK0804+Treg+Therapy+for+Treatment+of+Myelofibrosis/25809351.html

Context: Allogeneic CXCR4^hi Tregs designed to home to bone marrow and spleen; early data presented at ASH 2025.

Key point: Orphan designation supports development in a rare MPN with limited options.

Implication: Signals pipeline investment and modality expansion.

Why it matters

Regulators in the EU, Canada, Korea, and the US advanced multiple rare-disease programs, indicating broad policy momentum across regions.
Access initiatives, from Korea’s reimbursement reforms to Zevra’s named-patient supply, aim to reduce time-to-therapy for ultra-rare conditions.
Setbacks in FOP and SBMA underscore clinical risk in small populations where endpoints and biology remain challenging.
BD activity, including BioMarin–Amicus and Shionogi–RADICAVA, shows incumbents consolidating commercial platforms in rare disease.
Individualized gene-editing efforts seek scalable models to address the long tail of ultra-rare mutations.

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FAQ

What is the Center for Genetic Surgery and who is involved?

A Broad-affiliated nonprofit to streamline patient-specific gene editing with partners including Beam, Prime, Boston Children’s, Jackson Lab, and N=1 Collaborative [1].

What did the EU approve for ITP and on what evidence?

Sanofi’s Wayrilz (rilzabrutinib), a reversible BTK inhibitor, based on LUNA 3 showing durable platelet responses and QoL improvements vs placebo (endpoint specifics as reported) [12].

What’s the status of givinostat in Japan?

Italfarmaco licensed rights to JCR, which will lead local development and filings for DMD; givinostat is approved in US, EU, UK but not yet in Japan [2].

How does Elfabrio fit into Fabry treatment in Canada?

Health Canada approved Elfabrio for adults; phase 3 data indicate efficacy comparable to other ERTs with a consistent safety profile [3].

What happened in Ipsen’s FALKON FOP trial?

Fidrisertib failed to reduce new heterotopic ossification vs placebo; the study will close, with no new safety issues reported [11].

What rare-disease platform moves are BioMarin and Shionogi making?

BioMarin agreed to acquire Amicus for $4.8B, adding Fabry and Pompe assets [5]. Shionogi will acquire global RADICAVA rights to build a US rare-disease platform [8].

Entities / Keywords

Rare Disease Today—January 8, 2026

In Today’s Newsletter

🧬 Center for Genetic Surgery aims to cut bespoke gene-editing costs [1] [26 Dec 2025]

🤝 Italfarmaco licenses givinostat to JCR in Japan, adds broader tie-up [2] [Japan • 24 Dec 2025]

🍁 Health Canada okays Elfabrio for Fabry adults [3] [Canada • 18 Dec 2025]

🦴 Ipsen ends Phase II FALKON in FOP after miss [11] [19 Dec 2025]

♟️ BioMarin to acquire Amicus for $4.8B [5] [19 Dec 2025]

🫁 EMA grants ODD to Sanofi’s efdoralprin alfa for AATD emphysema [6] [EU • 18 Dec 2025]

❌ FDA issues CRL for Corcept’s relacorilant in Cushing’s-related hypertension [7] [US • 23 Dec 2025]

💼 Shionogi to acquire global RADICAVA business from Tanabe Pharma [8] [Japan/US • 22 Dec 2025]

🧪 Nido Biosciences to wind down after SBMA phase 2 disappointment [9] [US • 02 Jan 2026]

🌍 Zevra inks Uniphar deal to expand access to MIPLYFFA in NPC outside Europe [10] [29 Dec 2025]

🩸 EU approves Sanofi’s Wayrilz for ITP, first BTK inhibitor in the setting [12] [EU • 23 Dec 2025]

🧵 Pfizer reports death in Hympavzi (marstacimab) OLE study [13] [23 Dec 2025]

🏥 PANTHERx Rare to exclusively dispense VOYXACT for IgAN in US [14] [US • 18 Dec 2025]

🇰🇷 Korea approves Roche’s Piascai for PNH, including first pediatric nod [15] [Korea • 24 Dec 2025]

🇰🇷 Korea moves to cut costs and speed access for rare and intractable diseases [16] [Korea • 05 Jan 2026]

🧫 FDA grants ODD to Cellenkos’ CK0804 Tregs for myelofibrosis [17] [US • 06 Jan 2026]

Why it matters

FAQ

What is the Center for Genetic Surgery and who is involved?

What did the EU approve for ITP and on what evidence?

What’s the status of givinostat in Japan?

Entities / Keywords

References