Watch Our Video Summary Capturing Top Rare Disease News from the Last Two Weeks
From CRD’s FDA ODD in LGMDR9, Japan’s ODDs for JR-446 and DYNE-251, to GEMMABio’s Rare Therapeutics launch—this episode’s signals are robust. We span gene therapy, rare pediatric and ultra-orphan diseases, regulatory approvals, and global partnerships, with clinical efficacy updates and strategic collaborations across healthcare innovation, underscoring accelerated development and international expansion.
Top Stories Covered in This Video
🧬 CRD nabs FDA ODD for CRD-003 in LGMDR9 (FKRP) [1] [US • 24 Sep 2025]
Context: Nonprofit CRD developing an AAV MYO2 gene therapy encoding FKRP to restore alpha-dystroglycan glycosylation.
Key point: FDA granted Orphan Drug Designation to CRD-003 for LGMDR9 (biallelic FKRP).
Implication: Partnerships/BD. Signals pipeline investment and modality expansion.
🧪 Japan ODD for JR-446 in MPS IIIB (JCR/MEDIPAL) [2] [Japan • 29 Sep 2025]
Context: J-Brain Cargo technology; Phase 1/2 JR-446-101 running in Japan; no approved therapies noted.
Key point: MHLW granted Orphan Drug Designation to JR-446 for Sanfilippo B, following US and EU ODDs earlier in 2025.
Implication: Regulatory/generics. Introduces competition that may affect pricing and formulary access.
🧓 Dyne’s DYNE-251 gets Japan ODD for DMD exon-51 [3] [US • 29 Sep 2025]
Context: Ongoing Phase 1/2 DELIVER trial; company cites sustained functional improvement through 18 months (details not specified).
Key point: MHLW granted Orphan Drug Designation for DYNE-251 in exon-51 amenable DMD, complementing US/EU statuses.
Implication: Clinical topline/efficacy. May influence prescriber choice and payer reviews pending full data.
🧒 Evkeeza expanded to US children 1–<5 with HoFH [4] [US • 26 Sep 2025]
Context: Prior approvals for older ages; extension supported by small EAP and compassionate-use datasets (n not stated).
Key point: FDA approved evinacumab as adjunct therapy for HoFH in ages 1–<5.
Implication: Regulatory/generics. Introduces competition that may affect pricing and formulary access.
🚀 GEMMABio launches Rare Therapeutics for ultra-orphan gene therapies [5] [US • 07 Oct 2025]
Context: RareTx to advance CNS and heart/skeletal muscle programs, including GM1, Krabbe, MLD; hubs in Brazil and Abu Dhabi.
Key point: GEMMABio created a clinical-stage affiliate to develop gene therapies for ultra-orphan diseases with novel financing and delivery strategies.
Implication: Partnerships/BD. Signals pipeline investment and modality expansion.
🛰️ Rocket withdraws Fanconi anemia BLA for RP-L102 [6] [03 Oct 2025]
https://www.fiercebiotech.com/biotech/rocket-aborts-mission-get-gene-therapy-approved-fanconi-anemia
Context: Rolling BLA initiated earlier in 2025; July pipeline reprioritization; company cites no new safety or efficacy concerns.
Key point: Rocket voluntarily withdrew the FDA BLA for RP-L102, focusing on programs with clearer paths.
Implication: Partnerships/BD. Signals pipeline investment and modality expansion.
👁️ AAVantgarde’s AAVB-039 gets US ODD and UK CTA in Stargardt [7] [Italy • 02 Oct 2025]
Context: Phase 1/2 CELESTE ongoing; US Fast Track in place; delivers full-length ABCA4.
Key point: FDA ODD and MHRA CTA cleared for AAVB-039 in ABCA4-mediated Stargardt disease.
Implication: Clinical topline/efficacy. May influence prescriber choice and payer reviews pending full data.
🤝 Chiesi–Arbor global deal for ABO-101 in PH1, plus liver targets [8] [Italy • 06 Oct 2025]
Context: Exclusive rights to ABO-101 and options on KO and RT editing platforms; collaboration on Phase 1/2 redePHine.
Key point: Up to $115M upfront and near-term, up to $2B milestones, and low double-digit tiered royalties for licensed products.
Implication: Partnerships/BD. Signals pipeline investment and modality expansion.
Why it matters
- ODDs in US, EU, and Japan can unlock tax credits, fee waivers, and market exclusivity.
- Pediatric label expansions can shift standard-of-care and access pathways.
- Strategic pivots and partnerships shape which ultra-rare programs reach patients.
- Regional hubs and delivery models may improve equitable access to complex genetic medicines.
📢 Stay Ahead in Rare Disease research!
✅ Like, share, and subscribe to our YouTube channel for future highlights. Don’t miss our weekly newsletters with the latest updates on rare diseases, including novel therapies, clinical advancements, and breakthrough treatments.
✅ Contact LucidQuest at info@lqventures.com for expert guidance on innovations shaping the future of rare disease research and care.
FAQ
What did FDA grant for CRD-003 and what is the approach? [1]
FDA granted ODD to CRD-003, an AAV MYO2 gene therapy encoding FKRP to restore alpha-dystroglycan glycosylation in LGMDR9. Incentives include tax credits and potential exclusivity.
How advanced is JR-446 for MPS IIIB? [2]
JR-446 holds ODD in Japan, US, and EU and is in a Phase 1/2 study in Japan. No approved therapies are noted in the source.
What does Japan’s ODD mean for DYNE-251? [3]
It supports local development and potential market exclusivity in Japan, complementing US/EU statuses for exon-51 DMD. DELIVER is ongoing.
What changed in Evkeeza’s US label? [4]
Evinacumab is now approved for HoFH in children 1–<5 as an adjunct to standard therapy. Support includes small EAP and compassionate-use data, with no new safety signals reported.
What is Rare Therapeutics aiming to deliver? [5]
RareTx, launched by GEMMABio, targets ultra-orphan CNS and muscle diseases and plans delivery via regional centers and public-private partnerships.
What are the key economics of the Chiesi–Arbor deal? [8]
Arbor may receive up to $115M upfront and near-term, up to $2B in milestones, and low double-digit tiered royalties on licensed products.
Entities / Keywords
Cure Rare Disease; CRD-003; LGMDR9; FKRP; JCR Pharmaceuticals; MEDIPAL; JR-446; MPS IIIB; Dyne Therapeutics; DYNE-251; DMD exon-51; Regeneron; Evkeeza, evinacumab; HoFH; GEMMA Biotherapeutics; Rare Therapeutics (RareTx); Rocket Pharmaceuticals; RP-L102; Fanconi anemia; AAVantgarde Bio; AAVB-039; ABCA4; Stargardt; Chiesi Group; Arbor Biotechnologies; ABO-101; PH1; gene editing.
References
- https://www.businesswire.com/news/home/20250924354367/en/Cure-Rare-Disease-Secures-FDA-Orphan-Drug-Designation-for-Investigational-Gene-Therapy-to-Treat-Limb-Girdle-Muscular-Dystrophy-Type-R9-LGMD2iR9
- https://www.businesswire.com/news/home/20250929768776/en/Notice-of-Orphan-Drug-Designation-for-JR-446-for-Mucopolysaccharidosis-Type-IIIB-by-Ministry-of-Health-Labour-and-Welfare-of-Japan
- https://www.globenewswire.com/news-release/2025/09/29/3157735/0/en/Dyne-Therapeutics-Receives-Orphan-Drug-Designation-in-Japan-for-DYNE-251-in-Duchenne-Muscular-Dystrophy.html
- https://newsroom.regeneron.com/news-releases/news-release-details/evkeezar-evinacumab-dgnb-angptl3-antibody-approved-us-children
- https://www.prnewswire.com/news-releases/gemmabio-launches-rare-therapeutics-inc-to-develop-and-deliver-gene-therapies-for-ultraorphan-diseases-302576274.html
- https://www.fiercebiotech.com/biotech/rocket-aborts-mission-get-gene-therapy-approved-fanconi-anemia
- https://www.manilatimes.net/2025/10/02/tmt-newswire/globenewswire/aavantgarde-announces-fda-orphan-drug-designation-and-uk-cta-approval-for-aavb-039-for-the-treatment-of-stargardt-disease/2193800
- https://www.globenewswire.com/news-release/2025/10/06/3161565/0/en/Chiesi-Group-and-Arbor-Biotechnologies-Announce-a-Global-Strategic-Partnership-to-Develop-Novel-Rare-Disease-Gene-Editing-Programs.html