Rare Diseases Weekly News – October 2nd 2025

LucidQuest

1 month ago

🧬 This Week in Rare Diseases: Sanofi’s $625M Venture Boost, FDA Orphan Nod, Pediatric Genomics, and More

From early-stage innovation funding by Sanofi Ventures to FDA orphan drug designation for Cure Rare Disease’s CRD-003, this week’s roundup spotlights pivotal regulatory wins, specialty partnerships, and research breakthroughs spanning LGMD2i, acromegaly, and rare pediatric encephalitis. You will discover advances from the US to Asia and Europe.

In Today’s Newsletter

💸 Sanofi boosts venture arm by $625M [1] [24 Sep 2025]

https://www.biospace.com/business/sanofi-fattens-venture-unit-with-625m-infusion-for-rare-disease-neuro-innovation
Context: Sanofi Ventures total AUM now >$1.4B; focus on immunology, rare disease, neurology, vaccines.
Key point: Sanofi increased capital to back early-stage biotechs/digital health aligned with its growth areas.
Implication: Partnerships/BD: Signals pipeline investment and modality expansion.

🧬 CRD-003 gets FDA Orphan Drug Designation for LGMD2i/R9 [2] [US • 24 Sep 2025]

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
Context: AAV MYO2 vector encoding FKRP under muscle promoter; targets alpha-dystroglycan glycosylation.
Key point: FDA granted ODD to CRD-003 for FKRP-related LGMD2i/R9 (endpoint not specified).
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🏥 Orsini to dispense PALSONIFY (paltusotine) for acromegaly [3] [US • 26 Sep 2025]

https://www.prnewswire.com/news-releases/orsini-selected-as-specialty-pharmacy-partner-for-crinetics-palsonify-paltusotine-302567807.html
Context: PALSONIFY is FDA-approved once-daily oral SST2 agonist for adults with acromegaly after/without surgery.
Key point: Orsini named specialty pharmacy partner to expand access and support within endocrinology network.
Implication: Access programs: May expand screening, initiation, and follow-up at scale.

🧠 GeneDx “Infinity” dataset introduced at AAP Denver [4] [US • 25 Sep 2025]

https://www.businesswire.com/news/home/20250925284526/en/GeneDx-Infinity-Pioneers-a-New-Era-of-Genetic-Medicine-with-its-Introduction-at-the-American-Academy-of-Pediatrics-National-Conference
Context: GeneDx cites >2.5M genomic patients, ~1M exomes/genomes, >7M phenotypic datapoints; >50% non-European.
Key point: Company is showcasing Infinity to pediatricians amid AAP guidance favoring exome/genome as first-tier tests.
Implication: Observational/RWE: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🌍 Er-Kim to commercialize Nulibry & Zokinvy across 33 markets [5] [EU • 24 Sep 2025]

https://www.globenewswire.com/news-release/2025/09/24/3155462/0/en/Er-Kim-Enters-Commercialization-Agreement-with-Sentynl-Therapeutics-for-Nulibry-fosdenopterin-and-Zokinvy-lonafarnib-Targeting-Ultra-Rare-Diseases.html
Context: Agreement with Sentynl; regions include CEE, Mediterranean, Eurasia; both products FDA/EMA-approved.
Key point: Deal expands access to MoCD Type A (Nulibry) and HGPS/PDPL (Zokinvy) treatments in designated countries.
Implication: Access programs: May expand screening, initiation, and follow-up at scale.

🧪 Arialys ART5803 gets FDA Rare Pediatric Disease Designation (ANRE) [6] [US • 26 Sep 2025]

https://www.biospace.com/press-releases/arialys-therapeutics-receives-fda-rare-pediatric-disease-designation-for-art5803-to-treat-anti-nmda-receptor-encephalitis
Context: Precision therapeutic designed to inhibit NMDA receptor–targeting autoantibodies; Phase 1 SAD/MAD completed.
Key point: FDA granted RPDD for pediatric ANRE; Phase 2 initiation noted (endpoint not specified).
Implication: Clinical topline/efficacy: May influence prescriber choice and payer reviews pending full data.

🇰🇷 Korea to reimburse Bylvay (odevixibat) for PFIC [7] [KR • 25 Sep 2025]

https://www.koreabiomed.com/news/articleView.html?idxno=29105
Context: National health insurance coverage begins in October; PFIC is a rare pediatric cholestatic liver disease.
Key point: Ipsen Korea announced reimbursement, enabling oral management and potentially reducing transplant need (as reported).
Implication: Access programs: May expand screening, initiation, and follow-up at scale.

🧫 BRF2 mutations linked to rare immune/developmental disorder [8] [KR • 30 Sep 2025]

https://www.koreabiomed.com/news/articleView.html?idxno=29166
Context: SNUH-led team identified autosomal recessive BRF2 variants via WES; cellular/3D/ scRNA analyses performed.
Key point: Study reports mechanistic pathogenesis via SeCys-tRNA deficiency and oxidative stress; selenium rescued GPX4 in vitro.
Implication: Observational/RWE: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🇯🇵 Japan ODD for JR-446 (MPS IIIB; JCR/MEDIPAL) [9] [JP • 29 Sep 2025]

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
Context: Prior ODD in US (Apr 2025) and EU (Jun 2025); Phase I/II JR-446-101 ongoing in Japan using J-Brain Cargo®.
Key point: MHLW granted ODD for JR-446 in MPS IIIB; no approved therapies currently available.
Implication: Regulatory/generics: Introduces competition that may affect pricing and formulary access.

🧓 Dyne’s DYNE-251 gets Japan ODD (DMD exon 51) [10] [JP • 29 Sep 2025]

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
Context: Phase 1/2 DELIVER ongoing; company cites sustained functional improvement through 18 months.
Key point: Japan ODD complements US/EU designations; regulatory path discussions planned (metrics not independently detailed here).
Implication: Clinical topline/efficacy: May influence prescriber choice and payer reviews pending full data.

🧯 Evkeeza label expanded to ages 1–<5 with HoFH (US) [11] [US • 26 Sep 2025]

https://newsroom.regeneron.com/news-releases/news-release-details/evkeezar-evinacumab-dgnb-angptl3-antibody-approved-us-children
Context: Initial approvals: ≥12 (2021); 5–11 (2023); expansion supported by EAP/compassionate-use data (n stated in source).
Key point: FDA approved Evkeeza as adjunct therapy in children 1–<5 with HoFH; prior trial showed ~50% LDL-C lowering vs placebo in older cohorts.
Implication: Clinical topline/efficacy: May influence prescriber choice and payer reviews pending full data.

Why it matters

Orphan and pediatric designations in US/JP sustain momentum for neuromuscular and metabolic rare diseases.
Access wins (Korea reimbursement; EMEA distribution deals) move beyond approvals to real-world availability.
Dataset/diagnostics moves (GeneDx) align with first-tier sequencing guidance, potentially shortening diagnostic odysseys.
Venture capital expansion (Sanofi) signals continued appetite for early-stage rare/neuro innovation despite funding headwinds.

📢 Stay Ahead in Rare Disease Research!

✅ Contact LucidQuest at info@lqventures.com for strategic guidance on orphan drugs, rare conditions, and clinical trial breakthroughs

FAQ

What is CRD-003 targeting and what did FDA grant? [2]
CRD-003 delivers FKRP via AAV MYO2 to restore alpha-dystroglycan glycosylation in LGMD2i/R9. FDA granted Orphan Drug Designation; endpoints/timelines not specified in the release.

Which populations are newly eligible for Evkeeza in the US? [11]
Children aged 1 to <5 years with HoFH, as an adjunct to diet and other lipid-lowering therapies. Prior approvals covered ages ≥12 (2021) and 5–11 (2023).

What is DYNE-251’s regulatory status in Japan? [10]
It received Orphan Drug designation from MHLW for DMD amenable to exon 51 skipping. It’s in the Phase 1/2 DELIVER trial; company cites sustained functional gains through 18 months.

Where will Nulibry and Zokinvy be newly distributed? [5]
Via Er-Kim across 33 countries in Central/Eastern Europe, the Mediterranean, and parts of Eurasia, per the Sentynl partnership announcement.

What is GeneDx “Infinity,” and why highlight at AAP? [4]
A large rare-disease genomics dataset (company cites >2.5M patients, ~1M exomes/genomes, diverse representation). Showcased to align with AAP guidance endorsing exome/genome as first-tier testing.

When does Korea’s Bylvay reimbursement begin and for whom? [7]
Starting in October (per Ipsen Korea), for PFIC, enabling access to oral therapy under national insurance.

Entities / Keywords

Sanofi Ventures; Cure Rare Disease (CRD-003; LGMD2i/R9; FKRP; AAV MYO2); Crinetics / PALSONIFY (paltusotine; SST2 agonist; acromegaly); GeneDx (Infinity; ExomeDx; GenomeDx; AAP); Er-Kim / Sentynl (Nulibry/fosdenopterin; Zokinvy/lonafarnib; MoCD Type A; HGPS; PDPL); Arialys (ART5803; ANRE; RPDD); Ipsen (Bylvay/odevixibat; PFIC; Korea reimbursement); SNUH (BRF2; SeCys-tRNA; GPX4; selenium); JCR / Medipal (JR-446; MPS IIIB; J-Brain Cargo); Dyne (DYNE-251; DMD exon 51; DELIVER); Regeneron (Evkeeza/evinacumab; ANGPTL3; HoFH).