This week’s rare diseases update spotlights key developments, regulatory milestones, and the latest progress shaping the biopharma landscape.
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🧬 FDA clears intrathecal Itvisma for SMA ages ≥2 (Novartis) [1] [US • 24 Nov 2025]
Key point: FDA approved Itvisma (onasemnogene abeparvovec-brve) as a one-time SMN1 gene replacement for children ≥2, teens and adults with SMA.
Context: Based on Phase 3 STEER and Phase 3b STRENGTH, showing motor function improvement and stabilization over 52 weeks; common AEs included URTI and pyrexia (per release).
Implication: Introduces competition that may affect pricing and formulary access.
🍁 Canada’s rare disease strategy shows ROI, needs more screening (CORD) [2] [Canada • 25 Nov 2025]
Key point: Midpoint update notes at least 12 drugs funded across provinces, with nine disease areas highlighted; CORD urges more focus on early screening and real-world data.
Context: Ipsos survey cites long diagnostic journeys and inpatient utilization; CORD frames priorities for Phase 1 remainder and Phase 2 post-2027.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.
💊 Cladribine capsules get FDA Fast Track for gMG (EMD Serono/Merck KGaA) [3] [US • 24 Nov 2025]
Key point: FDA granted Fast Track and previously Orphan Drug Designation for cladribine capsules in generalized myasthenia gravis.
Context: Global Phase 3 MyClad trial ongoing (n planned 264); company engaging patient councils and digital tools for RWE and monitoring.
Implication: May influence prescriber choice and payer reviews pending full data.
🌐 Europe urged to scale digitally enhanced rare care (EURACTIV op-ed) [4]
https://www.euractiv.com/opinion/enabling-digitally-enhanced-care-for-rare-diseases-in-europe/
Key point: Op-ed calls for harmonized frameworks to deploy AI, telemedicine and connected devices in rare disease pathways, citing MetabERN and EVERSANA collaboration.
Context: References WHA resolution on rare diseases and need for European Health Data Space alignment; emphasizes multi-stakeholder evidence and ethics.
Implication: May expand screening, initiation, and follow-up at scale.
🤖 AI model popEVE flags ultra-rare disease genes (CRG + Harvard) [5] [Spain • 25 Nov 2025]
Key point: Report claims popEVE outperformed AlphaMissense in classifying pathogenic variants and identified 123 candidate genes for developmental disorders.
Context: Summary cites Nature Genetics article; tool trained on cross-species and human variation, with limitations to protein-altering variants.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.
👁️ ASOs delay retinal degeneration in CLN3 Batten (preclinical) [6] [25 Nov 2025]
Key point: In CLN3 pig models, single-dose ASOs induced exon skipping and delayed retinal degeneration for up to a year, with waning effect by 12 months.
Context: Exon-skipping strategy showed dose-dependent activity; limitations include predominance in cones and preventive rather than restorative effect.
Implication: May influence prescriber choice and payer reviews pending full data.
🍼 Greece sets 14 guidelines for newborn genomic testing (EETBTE) [7] [Greece • 25 Nov 2025]
https://greekcitytimes.com/2025/11/25/greece-issues-14-recommendations-on-newborn-genomic-testing/
Key point: National Bioethics and Technoethics Committee outlined 14 recommendations covering consent, oversight, target disease selection and data protections.
Context: Notes technical feasibility to detect >6,600 monogenic diseases and calls for counseling, DPIAs and program evaluation.
Implication: May expand screening, initiation, and follow-up at scale.
📉 Applied Therapeutics cuts 46% staff, explores options [8] [US • 20 Nov 2025]
Key point: Company initiated layoffs and strategic review as FDA path for govorestat remains uncertain, with cash constraints and potential need for new Phase 3.
Context: Minutes from September FDA meeting prompted reassessment; prior NDA setbacks in galactosemia noted.
Implication: Signals pipeline investment and modality expansion.
Why it matters
- One-time SMA gene therapy approval expands options beyond infancy and could shift chronic-therapy reliance [1].
- Canada’s mid-strategy pivot to screening and RWD may accelerate time to diagnosis and access [2].
- Oral gMG therapy, if successful, could reduce infusion burden and broaden treatment settings [3].
- EU alignment on digital and data standards is pivotal for scaling rare disease diagnostics and monitoring [4,7].
- Emerging AI and ASO modalities illustrate faster gene discovery and targeted interventions, yet require careful validation and durability planning [5,6].
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FAQ
What exactly did the FDA approve for SMA this week?
Itvisma (onasemnogene abeparvovec-brve) for patients aged two years and older, teens and adults with SMA, as a one-time gene replacement therapy administered intrathecally, per Novartis’ release [1].
Which therapies are funded under Canada’s rare disease strategy?
CORD lists at least 12 funded drugs across provinces, citing nine disease areas including PH1, VHL, NF1, FOP, several lymphomas, BBS and HoFH. Specific product names are not enumerated in the source [2].
Is cladribine for gMG available now?
No. It has FDA Fast Track and Orphan status, with the Phase 3 MyClad trial in progress. Efficacy and safety are pending full data readout [3].
How strong is the evidence that popEVE beats AlphaMissense?
The report cites a Nature Genetics paper and states popEVE outperformed AlphaMissense and flagged 123 candidate genes. Details are summarized in media, not independently verified here [5].
Can ASOs reverse vision loss in CLN3 Batten?
Preclinical data suggest prevention or delay of degeneration, not restoration of lost vision, with effects diminishing by 12 months post single dose [6].
What do Greece’s genomic testing recommendations change in practice?
They set ethical-legal guardrails including consent, oversight, target disease lists, counseling and DPIAs to support national newborn genomic programs [7].
Entities / Keywords
Novartis; Itvisma; onasemnogene abeparvovec; SMA; SMN1 | CORD; Canada rare disease strategy; RWD | EMD Serono; Merck KGaA; cladribine capsules; gMG; MyClad | Chiesi; MetabERN; EVERSANA; European Health Data Space | CRG; Harvard Medical School; popEVE; AlphaMissense | CLN3 Batten; antisense oligonucleotide; exon skipping | EETBTE; newborn genomic screening; DPIA | Applied Therapeutics; govorestat; CMT-SORD; galactosemia.
References
- https://www.novartis.com/news/media-releases/novartis-receives-fda-approval-itvisma-only-gene-replacement-therapy-children-two-years-and-older-teens-and-adults-spinal-muscular-atrophy-sma
- https://www.cantechletter.com/newswires/canadas-1-5-billion-rare-disease-drug-strategy-generating-return-on-investment-for-patients-and-society-but-more-needs-to-be-done/
- https://www.biospace.com/press-releases/emd-serono-takes-patient-directed-approach-to-bring-innovation-to-the-treatment-of-rare-neuromuscular-disorder-generalized-myasthenia-gravis
- https://www.euractiv.com/opinion/enabling-digitally-enhanced-care-for-rare-diseases-in-europe/
- https://en.ara.cat/society/an-ai-has-been-created-that-diagnoses-ultra-rare-diseases-better-than-google-s_1_5572220.html
- https://www.bioxconomy.com/modalities/asos-could-delay-blindness-in-children-with-ultra-rare-genetic-disease
- https://greekcitytimes.com/2025/11/25/greece-issues-14-recommendations-on-newborn-genomic-testing/
- https://www.fiercebiotech.com/biotech/applied-lays-46-workforce-rare-disease-drug-approval-looks-out-reach