In this biweekly edition, we cover the most significant developments shaping the future of rare diseases — from recent regulatory news to noteworthy industry updates.
Watch Our Video Summary Capturing Top Rare Disease News from the Last Two Weeks
Top Stories Covered in This Video
👁️ Abeona’s XLRS gene therapy enters FDA RDEA pilot [1] [US • 13 Oct 2025]
https://www.ophthalmologytimes.com/view/abeona-therapeutics-abo-503-chosen-for-fda-s-rare-disease-endpoint-advancement-pilot-program
Context: ABO-503 uses AAV204 AIM capsid; mouse XLRS efficacy; IND-enabling targeted H2 2026.
Key point: FDA selected ABO-503 for RDEA, enabling iterative collaboration on product-specific novel endpoints.
Implication: Signals pipeline investment and modality expansion.
🧭 NORD Breakthrough Summit spotlights rare-disease policy and RWD [2] [US • 13 Oct 2025]
https://www.prnewswire.com/news-releases/nord-breakthrough-summit-features-bold-new-ideas-for-the-future-of-rare-disease-care-policy-and-research-302581226.html
Context: Posters cover Medicaid genetic-testing gaps, RWD-enabled discovery, and patient-advisory pilots.
Key point: Summit elevates access and research innovations aligned to lived experience.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.
🧬 Rocket’s KRESLADI BLA resubmission accepted; PDUFA 28 Mar 2026 [3] [US • 14 Oct 2025]
https://www.pharmiweb.com/press-release/2025-10-14/rocket-pharmaceuticals-announces-fda-acceptance-of-bla-resubmission-of-kresladi-for-the-treatment-o
Context: Autologous LV HSC therapy for severe LAD-I; phase 1/2 met endpoints with 12-month OS 100% per sponsor.
Key point: FDA accepted BLA; PRV eligibility if approved.
Implication: May influence prescriber choice and payer reviews pending full data.
🩺 EU policy op-ed: smoother paediatric-to-adult transitions in SCD [4] [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: Sickle Cell Transitions Policy Lab Charter proposes structured, holistic transitions.
Key point: Urges EU and national frameworks to standardise transitions across rare diseases.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.
🩸 Wayrilz (rilzabrutinib) wins CHMP positive opinion in ITP [5] [EU • 17 Oct 2025]
https://www.sanofi.com/en/media-room/press-releases/2025/2025-10-17-11-05-00-3168539
Context: Oral BTK inhibitor; LUNA 3 met primary and secondary endpoints; US and UAE approvals already.
Key point: CHMP recommends EU approval for adult ITP refractory to other treatments.
Implication: Introduces competition that may affect pricing and formulary access.
🧫 CHMP issues negative opinion on Elfabrio every-4-weeks dosing [6] [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: BRIGHT switch-over and extension data plus PK modelling reviewed.
Key point: Evidence deemed insufficient to add E4W; E2W regimen remains approved.
Implication: Introduces competition that may affect pricing and formulary access.
💸 CBO: expanded orphan-drug negotiation exemption costs $8.8B [7] [US • 21 Oct 2025]
https://www.fiercehealthcare.com/regulatory/expanded-price-negotiation-exemption-orphan-drugs-cost-medicare-88b-over-10-years-cbo
Context: Update for One Big Beautiful Bill Act; range depends on CMS handling of formulations.
Key point: Higher 10-year Medicare impact fuels debate on incentives vs affordability.
Implication: Regulatory changes may affect payer budgets and access frameworks.
🇰🇷 Bylvay reimbursed in Korea for PFIC pruritus [8] [KR • 20 Oct 2025]
https://www.koreabiomed.com/news/articleView.html?idxno=29316
Context: First Asia coverage via Korea’s parallel approval and pricing pilot; US/EU approvals in 2021.
Key point: National insurance listing provides oral IBAT inhibitor access, with clinician-reported bile-acid and itch reductions.
Implication: May expand screening, initiation, and follow-up at scale.
Why it matters
- FDA’s RDEA pilot may accelerate fit-for-purpose endpoints in ultra-rare trials.
- EU outcomes diverge, boosting ITP access while holding Fabry dosing steady.
- US policy shifts reshape orphan-drug pricing strategy and payer exposure.
- Korea’s PFIC listing shows APAC routes activating for ultra-rare access.
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FAQ
What does FDA’s RDEA pilot provide Abeona?
Enhanced, iterative FDA collaboration to develop product-specific efficacy endpoints for ABO-503 in XLRS, potentially de-risking future trials [1].
When is Rocket’s FDA decision due for KRESLADI?
The PDUFA target action date is 28 Mar 2026. The BLA cites phase 1/2 data meeting endpoints and 12-month OS of 100% per sponsor [3].
What did CHMP decide for Wayrilz and Elfabrio?
Positive opinion for Wayrilz in adult ITP; negative opinion on adding Elfabrio every-4-weeks dosing, with every-2-weeks remaining approved [5][6].
How big is Medicare’s exposure from orphan-drug exemptions?
CBO projects $8.8B over 2025–2034, with uncertainty based on CMS treatment of formulations [7].
What changed for PFIC patients in Korea?
Bylvay gained national reimbursement, providing an oral option for PFIC-related pruritus and marking the first such coverage in Asia [8].
What themes emerged at NORD’s summit and EU SCD op-ed?
Focus on RWD, access gaps in genetic testing, scalable patient engagement, and structured transitions from paediatric to adult care in rare diseases [2][4].
Entities / Keywords
Abeona Therapeutics; ABO-503; XLRS; AAV204; FDA RDEA; NORD; Rocket Pharmaceuticals; KRESLADI; LAD-I; Sanofi; Wayrilz; rilzabrutinib; ITP; Chiesi; Protalix; Elfabrio; pegunigalsidase alfa; CBO; Medicare negotiation; Ipsen; Bylvay; odevixibat; PFIC; SCD transitions; EU policy; RWD.
References
- https://www.ophthalmologytimes.com/view/abeona-therapeutics-abo-503-chosen-for-fda-s-rare-disease-endpoint-advancement-pilot-program
- https://www.prnewswire.com/news-releases/nord-breakthrough-summit-features-bold-new-ideas-for-the-future-of-rare-disease-care-policy-and-research-302581226.html
- https://www.pharmiweb.com/press-release/2025-10-14/rocket-pharmaceuticals-announces-fda-acceptance-of-bla-resubmission-of-kresladi-for-the-treatment-o
- https://www.euractiv.com/opinion/bridging-the-gap-sickle-cell-disease-as-a-case-study-of-paediatric-to-adult-transition-in-rare-disease/
- https://www.sanofi.com/en/media-room/press-releases/2025/2025-10-17-11-05-00-3168539
- 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
- https://www.fiercehealthcare.com/regulatory/expanded-price-negotiation-exemption-orphan-drugs-cost-medicare-88b-over-10-years-cbo
- https://www.koreabiomed.com/news/articleView.html?idxno=29316