This week’s rare disease update highlights key regulatory designations, early clinical starts, strategic acquisitions, and high-value gene-editing partnerships shaping the rare-disease and genetic medicine landscape.
In Today’s Newsletter
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🧬 Solid’s dual-route FA gene therapy SGT-212 gets FDA RPD + Fast Track [1] [US • 01 Dec 2025]
Context: SGT-212 delivers full-length frataxin via intradentate nucleus and IV routes; FALCON Phase 1b screening underway.
Key point: FDA granted Rare Pediatric Disease and Fast Track designations, enabling potential PRV upon approval per program rules.
Implication: May influence prescriber choice and payer reviews pending full data.
🧒 Latus Bio IND cleared for CLN2 gene therapy LTS-101, with triple FDA designations [2] [US • 02 Dec 2025]
Context: One-time AAV candidate intended to provide durable CNS TPP1 expression in children with CLN2.
Key point: FDA cleared IND and granted Fast Track, Orphan Drug, and Rare Pediatric Disease designations.
Implication: Signals pipeline investment and modality expansion.
🧪 EMA grants Orphan Drug Designation to Kedrion’s ACP therapy [3] [EU • 27 Nov 2025]
Context: Plasma-derived ceruloplasmin approach for congenital aceruloplasminemia, an ultra-rare iron-metabolism disorder.
Key point: EMA Orphan Drug Designation complements prior FDA ODD per company, advancing toward clinical development in Europe.
Implication: Signals pipeline investment and modality expansion.
🧠 Ionis’ zilganersen gets FDA Breakthrough Therapy for Alexander disease [4] [US • 02 Dec 2025]
Context: Pivotal study in children and adults with Alexander disease; no approved disease-modifying therapies exist.
Key point: FDA Breakthrough Therapy designation; company plans NDA submission in Q1 2026, citing positive topline including gait speed.
Implication: May influence prescriber choice and payer reviews pending full data.
🤝 Regeneron backs Tessera’s gene writing for AATD, TSRA-196 [5] [US • 01 Dec 2025]
Context: In vivo RNA gene-writing candidate for AATD supported by mouse and NHP data showing liver specificity.
Key point: $150M upfront and equity, up to $125M milestones; cost and profit split, Tessera to lead first-in-human.
Implication: Signals pipeline investment and modality expansion.
🧩 Citizen Health–UCB ally on AI cohorts across epilepsy and rare diseases [6] [US • 02 Dec 2025]
Context: Multi-year partnership to use AI-driven patient insights for trial cohorts and post-marketing activities, promoted at AES 2025.
Key point: Collaboration spans epilepsy and five rare indications, including new AI use cases and RWD-enabled engagement.
Implication: DTC/telehealth: Could streamline initiation and adherence via remote prescribing and logistics.
🧯 Akebia buys Q32 Bio’s ADX-097 to build rare kidney pipeline [7] [US • 01 Dec 2025]
Context: Tissue-targeted complement inhibitor C3d-Factor H fusion, phase 2 renal basket halted by seller prior to deal.
Key point: $7M upfront, $5M guaranteed, up to $580M milestones, phase 2 basket planned across rare kidney indications.
Implication: Signals pipeline investment and modality expansion.
🧠💻 Pangaea Data–AstraZeneca to scale multimodal AI for rare disease detection [8] [01 Dec 2025]
Context: Multi-year collaboration supported by Microsoft and NVIDIA to identify undiagnosed or undertreated patients and support trials.
Key point: Enterprise platform to integrate imaging, clinical, pathology, genomic and RWD within workflows, with regulatory ambitions.
Implication: Signals pipeline investment and modality expansion.
Why it matters
- Regulatory designations can compress timelines and improve engagement with agencies.
- AI-enabled cohorting and RWD can de-risk trial recruitment and expand access.
- BD deals refocus pipelines in rare diseases, distributing risk and capital.
- Early clinical and preclinical signals in neuro and metabolic rare diseases set up 2026 inflection points.
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FAQ
What routes of administration are used in Solid’s SGT-212 program, and what is its status? [1]
SGT-212 uses dual routes, intradentate nucleus and IV, to deliver frataxin in Friedreich’s ataxia. It holds FDA Rare Pediatric Disease and Fast Track designations, and Phase 1b FALCON is screening.
Which FDA designations did LTS-101 receive, and for which condition? [2]
LTS-101 targets CLN2 disease. FDA cleared the IND and granted Fast Track, Orphan Drug, and Rare Pediatric Disease designations.
What is Kedrion developing for congenital aceruloplasminemia, and what did EMA grant? [3]
A plasma-derived ceruloplasmin therapy approach. EMA granted Orphan Drug Designation, supporting progression toward EU clinical development.
What did Ionis report for zilganersen, and what is next? [4]
FDA granted Breakthrough Therapy designation for Alexander disease, supported by pivotal topline. Ionis plans a Q1 2026 NDA.
What are the key terms of the Regeneron–Tessera AATD deal? [5]
$150M upfront and equity, up to $125M milestones, equal cost and profit split. Tessera leads first-in-human; Regeneron leads later development and commercialization.
How does Akebia plan to deploy ADX-097? [7]
As the centerpiece of a rare kidney disease pipeline, with a phase 2 basket across multiple indications planned after acquisition close.
Entities / Keywords
Solid Biosciences; SGT-212; Friedreich’s ataxia; frataxin; FALCON. Latus Bio; LTS-101; CLN2; TPP1. Kedrion; ceruloplasmin; congenital aceruloplasminemia; EMA ODD. Ionis; zilganersen; Alexander disease; Breakthrough Therapy. Regeneron; Tessera Therapeutics; TSRA-196; AATD; gene writing. Citizen Health; UCB; epilepsy; rare diseases; AES. Akebia Therapeutics; Q32 Bio; ADX-097; complement inhibitor; rare kidney disease. Pangaea Data; AstraZeneca; Microsoft; NVIDIA; multimodal AI.
References
- https://investors.solidbio.com/news-releases/news-release-details/solid-biosciences-receives-fda-rare-pediatric-disease
- https://www.businesswire.com/news/home/20251202268130/en/Latus-Bio-Announces-IND-Clearance-of-LTS-101-for-CLN2-Disease-and-Receipt-of-Fast-Track-Orphan-Drug-and-Rare-Pediatric-Disease-Designations
- https://www.eqs-news.com/news/corporate/european-medicines-agency-ema-grants-orphan-drug-designation-to-kedrions-plasma-derived-treatment-for-congenital-aceruloplasminemia-a-rare-genetic-disorder-of-iron-metabolism/4a365ac6-9cdb-4002-9500-6ed421163245_en
- https://www.biospace.com/press-releases/ionis-receives-u-s-fda-breakthrough-therapy-designation-for-zilganersen-for-alexander-disease-axd
- https://www.fiercebiotech.com/biotech/regeneron-makes-150m-bet-tesseras-rare-disease-gene-writing-prospect
- https://www.manilatimes.net/2025/12/02/tmt-newswire/globenewswire/citizen-health-joins-forces-with-ucb-to-accelerate-drug-development-across-epilepsy-and-rare-diseases/2235419
- https://www.fiercebiotech.com/biotech/akebia-pays-12m-complement-q32-bio-centerpiece-rare-kidney-disease-pipeline
- https://www.mobihealthnews.com/news/exclusive-pangaea-data-astrazeneca-leverage-ai-detect-rare-and-hard-diagnose-diseases