Rare Disease Today—January 15, 2026

This week’s Rare Disease update highlights major developments, spanning first-in-class approvals, regulatory setbacks, early clinical progress, and platform launches. The news reflects evolving regulatory expectations alongside continued investment in gene therapy, precision medicine, and rare hematology.

In Today’s Newsletter

Dive deeper

✨ Aurora Therapeutics launches to scale personalized gene editing [1] [US • 09 Jan 2026]

https://www.biospace.com/press-releases/aurora-therapeutics-launches-to-realize-potential-of-personalized-gene-editing-for-millions-of-patients-with-rare-diseases
Context: Founded by Jennifer Doudna and Fyodor Urnov, $16M seed from Menlo Ventures, initial program in phenylketonuria.
Key point: Company aims to operationalize modular, variant-tailored editors using umbrella regulatory pathways for rare variants.
Implication: Signals pipeline investment and modality expansion.

🧬 FDA issues CRL for Atara’s tabelecleucel in EBV+ PTLD [2] [US • 12 Jan 2026]

https://www.reuters.com/business/healthcare-pharmaceuticals/us-fda-declines-approve-ataras-therapy-rare-blood-cancer-2026-01-12/
Context: CRL states ALLELE trial no longer adequate for accelerated approval, prior manufacturing issues noted.
Key point: FDA cites design, conduct, and analysis confounding interpretability, contrary to earlier guidance per company.
Implication: May influence prescriber choice and payer reviews pending full data.

🧠 Solid’s SGT-212 gets FDA Orphan Drug, first patient dosed in Phase 1b FALCON [3] [US • 12 Jan 2026]

https://www.globenewswire.com/news-release/2026/01/12/3217367/0/en/Solid-Biosciences-Receives-FDA-Orphan-Drug-Designation-for-SGT-212-Dual-Route-Gene-Therapy-for-the-Treatment-of-Friedreich-s-Ataxia.html
Context: SGT-212 uses dual-route delivery (MRI-guided IDN to cerebellar dentate nuclei plus IV) targeting FA’s neuro-cardiac-systemic burden.
Key point: Orphan, Fast Track, and Rare Pediatric Disease designations granted, early clinical dosing underway.
Implication: May influence prescriber choice and payer reviews pending full data.

🧪 ZYCUBO approved, first US therapy for Menkes disease [4] [US • 13 Jan 2026]

https://sentynl.com/news/zycubo-fda-approval/
Context: Copper histidinate for pediatric Menkes, with Breakthrough, Fast Track, Rare Pediatric Disease, and Orphan statuses.
Key point: Approval supported by survival improvement versus external contemporaneous control, safety includes infectious and systemic events. Implication: Introduces competition that may affect pricing and formulary access.

📊 GeneDx–Komodo partner on longitudinal rare-disease dataset [5] [US • 08 Jan 2026]

https://finance.yahoo.com/news/genedx-komodo-health-partner-build-133000024.html
Context: Links GeneDx Infinity genomic/phenotypic data with Komodo’s Healthcare Map of 330M de-identified patient journeys.
Key point: Supports HEOR, RWE, trial feasibility, and AI model development using privacy-preserving methods.
Implication: Could inform practice and payer discussions; interpretation depends on study design and confounding control.

🧴 Palvella outlines 2026 milestones for QTORIN platform [6] [US • 09 Jan 2026]

https://www.globenewswire.com/news-release/2026/01/09/3216029/0/en/Palvella-Therapeutics-Provides-Corporate-Update-and-2026-Outlook-Advancing-a-Late-Clinical-Stage-Pipeline-and-Platform-to-Address-Multiple-Serious-Rare-Skin-Diseases-and-Vascular-M.html
Context: Phase 3 SELVA in microcystic LMs enrolled 51, topline expected Mar 2026, NDA planned H2 2026 if positive.
Key point: Positive Phase 2 in cutaneous VMs, FDA interactions planned Q1 2026, multiple Fast Track and Orphan recognitions.
Implication: Signals pipeline investment and modality expansion.

💊 Agios sets 2026 priorities, AQVESME launch in thalassemia [7] [US • 12 Jan 2026]

https://www.manilatimes.net/2026/01/12/tmt-newswire/globenewswire/agios-outlines-2026-strategic-priorities-and-key-milestones-to-accelerate-rare-disease-portfolio-growth/2256994
Context: AQVESME (mitapivat) approved Dec 2025 for alpha/beta-thalassemia anemia, commercial launch underway.
Key point: Pre-sNDA meeting for SCD targeted Q1 2026, additional 2026 readouts for tebapivat in LR-MDS and SCD.
Implication: May influence prescriber choice and payer reviews pending full data.

Why it matters

FDA’s CRL for Atara underscores evolving evidentiary expectations for rare oncology accelerated approvals.
First US approval for Menkes disease may catalyze earlier screening and intervention pathways.
Genomics plus RWE partnerships can speed trial design, external controls, and payer engagement in small populations.
Platform approaches in gene editing and topical mTOR modulation aim to scale across multiple rare indications.
Commercial execution in rare hematology can fund portfolio expansion and de-risk future filings.

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FAQ

What is Aurora Therapeutics targeting first and how?

PKU, using modular editors and umbrella regulatory approaches to group multiple PAH mutations under unified development paths, per launch materials [1].

Why did FDA reject Atara’s tabelecleucel now?

The CRL says the ALLELE trial is no longer adequate for accelerated approval and that design, conduct, and analysis confound interpretability, contrary to earlier guidance per the company [2].

How is Solid’s SGT-212 administered?

Dual-route delivery, an MRI-guided intradentate nuclei infusion to the cerebellar dentate nuclei followed by IV infusion, aiming to restore frataxin across systems in FA [3].

What is ZYCUBO indicated for and what supports approval?

Treatment of Menkes disease in pediatric patients, not OHS, supported by survival improvement versus an external contemporaneous control and safety consistent with severe pediatric disease [4].

What will the GeneDx–Komodo dataset enable?

HEOR, natural history and RWE studies, trial feasibility and external controls, and AI model development, using de-identified, privacy-preserving methods [5].

What are Palvella’s and Agios’ near-term milestones?

Palvella expects SELVA topline in Mar 2026 and NDA H2 2026 if positive [6]. Agios is launching AQVESME in thalassemia and plans a pre-sNDA meeting for mitapivat in SCD in Q1 2026 [7].

Entities / Keywords

Aurora Therapeutics; CRISPR; PKU; PAH; umbrella pathway; Atara Biotherapeutics; tabelecleucel; EBV+ PTLD; Solid Biosciences; SGT-212; Friedreich’s ataxia; intradentate nuclei; Sentynl Therapeutics; Zydus; ZYCUBO; Menkes disease; GeneDx; Komodo Health; Healthcare Map; RWE; HEOR; Palvella Therapeutics; QTORIN rapamycin; microcystic lymphatic malformations; cutaneous venous malformations; angiokeratomas; DSAP; Agios; AQVESME; mitapivat; sickle cell disease; tebapivat; LR-MDS.