Rare Disease Today—October 23, 2025

This week’s rare disease news delivers the latest regulatory updates, and orphan drug development news from leading biopharma companies.

In Today’s Newsletter

👁️ AAVB-039 wins FDA Orphan, MHRA CTA for Stargardt dual-AAV therapy [1] [21 Oct 2025]

https://www.cgtlive.com/view/aavantgarde-stargardt-gene-therapy-aavb-039-garners-fda-orphan-drug-designation-cleared-trial-uk
Context: Dual-AAV intein approach to deliver ABCA4; US IND cleared July 2025; Fast Track in August.
Key point: FDA Orphan and UK CTA enable CELESTE phase 1/2 progression in the US, with STELLA natural history informing design.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

❤️ Kiniksa’s KPL-387 gets FDA Orphan for pericarditis [2] [US • 17 Oct 2025]

https://www.manilatimes.net/2025/10/17/tmt-newswire/globenewswire/kiniksa-pharmaceuticals-announces-us-orphan-drug-designation-for-kpl-387-for-the-treatment-of-pericarditis/2203009
Context: Anti-IL-1R1 mAb targeting IL-1α/IL-1β signaling; phase 2/3 ongoing.
Key point: FDA granted Orphan for treatment of pericarditis, including recurrent disease; monthly SC dosing concept noted.
Implication: May influence prescriber choice and payer reviews pending full data.

🧴 QRX003 earns FDA Orphan in Netherton syndrome [3] [US • 21 Oct 2025]

https://www.manilatimes.net/2025/10/21/tmt-newswire/globenewswire/quoin-pharmaceuticals-announces-us-fda-grants-orphan-drug-designation-for-qrx003-in-netherton-syndrome/2205130
Context: EMA Orphan granted May 2025; two late-stage pivotal trials ongoing.
Key point: FDA Orphan adds incentives, with top-line data targeted H2 2026 and NDA planned thereafter (per company).
Implication: May influence prescriber choice and payer reviews pending full data.

🧠 Cellenkos CK0803 Tregs receive FDA Orphan in ALS [4] [US • 20 Oct 2025]

https://aijourn.com/fda-grants-orphan-drug-designation-to-cellenkos-ck0803-tregs-for-treatment-of-amyotrophic-lateral-sclerosis/
Context: CNS-homing allogeneic Tregs; early proof-of-concept and phase 1 signals cited.
Key point: FDA Orphan granted for ALS; randomized placebo-controlled trial planned for 2026.
Implication: Signals pipeline investment and modality expansion.

🧪 GondolaBio’s PORT-77 gets FDA Orphan and Fast Track in EPP/XLP [5] [US • 21 Oct 2025]

https://finance.yahoo.com/news/gondolabio-receives-u-fda-orphan-110000217.html
Context: Oral ABCG2 inhibitor; phase 2a GATEWAY running with plasma PPIX reduction as primary endpoint.
Key point: Dual designations support development in phototoxic and hepatobiliary manifestations; early studies show rapid PPIX lowering.
Implication: May influence prescriber choice and payer reviews pending full data.

🧬 Minovia’s MNV-201 gets FDA Orphan in myelodysplastic syndrome [6] [US • 16 Oct 2025]

https://www.onclive.com/view/fda-grants-orphan-drug-designation-to-mnv-201-for-myelodysplastic-syndrome
Context: Autologous CD34+ cells augmented with allogeneic mitochondria; phase 1b enrolling low-risk MDS.
Key point: FDA Orphan recognizes mitochondrial augmentation approach; prior Fast Track in MDS and designations in Pearson syndrome noted.
Implication: Signals pipeline investment and modality expansion.

🇪🇺 Policy spotlight: SCD transition to adult care in Europe [7] [EU • 17 Oct 2025]

https://www.euractiv.com/opinion/bridging-the-gap-sickle-cell-disease-as-a-case-study-of-paediatric-to-adult-transition-in-rare-disease/
Context: Opinion piece from Sickle Cell Transitions Policy Lab and partners.
Key point: Calls for EU and national policies enabling structured, person-centred paediatric-to-adult transitions for rare diseases.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🩸 Sanofi’s Wayrilz gets CHMP positive opinion for ITP [8] [EU • 17 Oct 2025]

https://www.sanofi.com/en/media-room/press-releases/2025/2025-10-17-11-05-00-3168539
Context: BTK inhibitor; LUNA 3 met primary and secondary endpoints; US and UAE approvals already in place.
Key point: CHMP recommends EU approval for ITP in adults refractory to other treatments.
Implication: Introduces competition that may affect pricing and formulary access.

🧫 Elfabrio every-4-weeks regimen gets CHMP negative opinion [9] [EU • 17 Oct 2025]

https://www.globenewswire.com/news-release/2025/10/17/3168523/0/en/Chiesi-Global-Rare-Diseases-and-Protalix-Biotherapeutics-Acknowledge-CHMP-Negative-Opinion-on-Every-Four-Week-Dosing-Regimen-of-Elfabrio-pegunigalsidase-alfa-in-the-EU.html
Context: Submission based on BRIGHT switch-over study and extension, plus PK modelling.
Key point: CHMP did not support adding 2 mg/kg every 4 weeks; q2-week regimen remains approved.
Implication: Introduces competition that may affect pricing and formulary access.

💸 CBO: Expanded orphan exemption to cost Medicare $8.8B over 10 years [10] [US • 21 Oct 2025]

https://www.fiercehealthcare.com/regulatory/expanded-price-negotiation-exemption-orphan-drugs-cost-medicare-88b-over-10-years-cbo
Context: Update to summer estimate for One Big Beautiful Bill Act provisions.
Key point: Higher-than-prior cost projection reflects inclusion of additional drugs and formulation handling scenarios.
Implication: Regulatory changes may affect payer budgets and access frameworks.

🇰🇷 Ipsen’s Bylvay launches in Korea with national coverage for PFIC [11] [KR • 20 Oct 2025]

https://www.koreabiomed.com/news/articleView.html?idxno=29316
Context: First Asia coverage under Korea’s parallel approval, evaluation and pricing pilot; US/EU approvals in 2021.
Key point: Reimbursed IBAT inhibitor offers non-transplant option for PFIC pruritus; clinicians report bile-acid reductions and symptom relief.
Implication: May expand screening, initiation, and follow-up at scale.

Why it matters

Orphan designations across ophthalmology, cardiology, neurology and hematology sustain pipeline momentum despite market headwinds.
EU regulatory outcomes diverge, with Wayrilz advancing in ITP while Elfabrio’s lower-burden regimen stalls.
Policy shifts on Medicare negotiation could reshape rare-disease pricing strategies in the US.
Korea’s national coverage for Bylvay shows Asia-Pacific pathways activating for ultra-rare access.

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FAQ

What is AAVB-039 and what did regulators grant?

AAVB-039 is a dual-AAV therapy delivering ABCA4 for Stargardt disease. FDA granted Orphan, and the UK MHRA cleared a CTA, with CELESTE phase 1/2 underway in the US [1].

How does KPL-387 differ from existing pericarditis therapies?

KPL-387 is an anti-IL-1R1 monoclonal antibody inhibiting IL-1α/IL-1β signaling. FDA granted Orphan designation; a phase 2/3 program is in progress with dose-focusing data expected H2 2026 [2].

What is PORT-77’s mechanism in EPP/XLP?

PORT-77 is an oral ABCG2 inhibitor aiming to lower plasma PPIX, potentially addressing skin and liver damage. FDA granted Orphan and Fast Track; a phase 2a proof-of-concept is running [5].

What did the CHMP decide for Wayrilz and Elfabrio?

CHMP issued a positive opinion for Wayrilz (rilzabrutinib) in ITP based on LUNA 3, while issuing a negative opinion on adding every-4-weeks Elfabrio dosing; the every-2-weeks regimen remains approved [8][9].

How big is the US policy impact on orphan drugs?

CBO now projects the expanded Medicare orphan exemption will cost $8.8B over 2025–2034, higher than prior estimates due to additional products and assumptions on formulations [10].

What changed for PFIC patients in Korea?

Ipsen’s Bylvay gained national reimbursement, offering an oral option for PFIC-related pruritus under Korea’s pilot coverage pathway, the first such listing in Asia [11].

Entities / Keywords

AAVantgarde Bio; AAVB-039; ABCA4; Stargardt; Kiniksa; KPL-387; pericarditis; Quoin; QRX003; Netherton syndrome; Cellenkos; CK0803; ALS; GondolaBio; Portal Therapeutics; PORT-77; EPP; XLP; Minovia; MNV-201; MDS; Sanofi; Wayrilz; rilzabrutinib; ITP; Chiesi; Protalix; Elfabrio; pegunigalsidase alfa; CBO; Medicare negotiation; Ipsen; Bylvay; odevixibat; PFIC; Korea reimbursement; EU CHMP; FDA Orphan; Fast Track.