Rare Diseases Today—January 29, 2026

This week’s rare disease updates focus on significant regulatory approvals, orphan drug designations, and clinical progress. Notable developments include breakthroughs in treatments for serious conditions and the expansion of access to critical therapies.

In Today’s Newsletter

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✨ Mendra Secures $82 Million to Advance AI-Driven Rare Disease Therapies [1] [US • 26 Jan 2026]

https://www.businesswire.com/news/home/20260121342918/en/Mendra-Launches-with-%2482-Million-Series-A-to-Acquire-Develop-and-Commercialize-Therapeutics-for-High-Unmet-Need-Rare-Diseases
Context: Mendra, a new biopharma company, has raised $82 million in Series A funding to develop AI-driven treatments for rare diseases.
Key point: The company will focus on leveraging AI to modernize the development of rare disease therapies.
Implication: The launch marks a pivotal move towards accelerating treatment development using AI, potentially transforming rare disease care.

🧬 IntraBio Receives European Commission Approval for AQNEURSA® in Niemann-Pick Type C Disease [2] [EU • 26 Jan 2026]

https://www.businesswire.com/news/home/20260121017823/en/IntraBio-Receives-European-Commission-Approval-of-AQNEURSA-for-the-Treatment-of-Niemann-Pick-Type-C-Disease
Context: IntraBio’s AQNEURSA® (levacetylleucine) has received European Commission approval for treating neurological manifestations of Niemann-Pick Type C disease.
Key point: This marks a major milestone in providing treatment options for patients with this rare and severe neurological disease.
Implication: AQNEURSA® offers a new therapeutic option and could significantly improve patient quality of life.

🧪 Curant Rare Partners with Cencora to Support Rare Disease Commercialization [3] [US • 22 Jan 2026]

https://www.pharmiweb.com/press-release/2026-01-22/curant-rare-announces-collaboration-with-cencora-to-support-commercialization-of-rare-and-orphan-dru
Context: Curant Rare collaborates with Cencora to create integrated solutions for rare and orphan drug commercialization.
Key point: The collaboration will address access barriers, making rare disease treatments more available to patients.
Implication: This partnership could streamline the commercialization of therapies for rare diseases, making treatments more accessible.

🧬 FDA Grants Orphan Drug Designation to Zavabresib for Myelofibrosis [4] [US • 27 Jan 2026]

https://www.biospace.com/article/fda-orphan-drug-designation-granted-to-zavabresib-for-myelofibrosis
Context: Zavabresib, an investigational therapy for myelofibrosis, has been granted FDA Orphan Drug Designation.
Key point: Zavabresib, in combination with ruxolitinib, has shown promise in treating patients with myelofibrosis, a rare blood cancer.
Implication: This designation could expedite the development of Zavabresib, offering new hope for myelofibrosis patients.

🧪 Immusoft Receives FDA Rare Pediatric Disease Designation for ISP-002 in Hunter Syndrome [5] [US • 26 Jan 2026]

https://www.prnewswire.com/news-releases/immusoft-receives-fda-rare-pediatric-disease-designation-for-isp-002-to-treat-mucopolysaccharidosis-type-ii-302669767.html
Context: Immusoft’s ISP-002 has received FDA Rare Pediatric Disease designation for the treatment of Hunter Syndrome (MPS II).
Key point: ISP-002 leverages engineered B cells to continuously deliver a therapeutic enzyme, addressing the needs of children with this rare genetic disorder.
Implication: The designation accelerates the development of ISP-002, which could offer significant benefits for pediatric patients with Hunter Syndrome.

💉 Quoin Pharmaceuticals Submits Application for Orphan Drug Designation for QRX003 in Netherton Syndrome [6] [US • 27 Jan 2026]

https://www.globenewswire.com/news-release/2026/01/27/3226489/0/en/Quoin-Pharmaceuticals-Announces-Submission-to-Japanese-MHLW-for-Orphan-Drug-Designation-for-QRX003-in-Netherton-Syndrome.html
Context: Quoin Pharmaceuticals has submitted an application for Orphan Drug Designation for QRX003 in Netherton Syndrome.
Key point: QRX003 is being investigated for the treatment of Netherton Syndrome, a rare genetic skin disorder.
Implication: If granted, this designation could fast-track QRX003’s development, providing new treatment options for this underserved patient population.

🔬 Imviva Biotech Receives FDA Orphan Drug Designation for CTD402 for T-Cell Leukemia [7] [US • 27 Jan 2026]

https://www.manilatimes.net/2026/01/27/tmt-newswire/globenewswire/imviva-biotech-receives-fda-orphan-drug-designation-for-ctd402-for-the-treatment-of-t-cell-leukemia-and-lymphoma/2266073/amp
Context: Imviva Biotech’s CTD402 has been granted FDA Orphan Drug Designation for the treatment of T-Cell Leukemia and Lymphoma.
Key point: CTD402 is a next-generation CAR-T cell therapy designed to treat aggressive T-Cell cancers.
Implication: The designation supports the continued development of CTD402, offering hope for patients with relapsed or refractory T-Cell Leukemia.

💉 Mirum Pharmaceuticals Acquires Bluejay Therapeutics to Strengthen Rare Disease Portfolio [8] [US • 27 Jan 2026]

https://www.businesswire.com/news/home/20260126610526/en/Mirum-Pharmaceuticals-Completes-Acquisition-of-Bluejay-Therapeutics-Expanding-Global-Leadership-in-Rare-Disease
Context: Mirum Pharmaceuticals has completed the acquisition of Bluejay Therapeutics, adding brelovitug for chronic hepatitis delta virus (HDV) to its portfolio.
Key point: The acquisition accelerates the development of brelovitug, which has shown promise in treating HDV, a rare liver disease.
Implication: This acquisition strengthens Mirum’s leadership in rare disease treatments, particularly in liver diseases.

🧬 iXCells Biotechnologies Partners with Rosebud Biosciences for Organoid-based Models [9] [US • 27 Jan 2026]

https://www.businesswire.com/news/home/20260127490249/en/iXCells-Biotechnologies-and-Rosebud-Biosciences-Partner-to-Advance-Organoid-Based-Models-for-Rare-Diseases
Context: iXCells Biotechnologies has partnered with Rosebud Biosciences to develop organoid-based models for rare diseases.
Key point: The collaboration combines iXCells’ iPSC platform with Rosebud’s expertise in organoids to improve drug safety and efficacy predictions.
Implication: This partnership could enhance the development of treatments for rare diseases by providing better human-relevant models for research.

Why it matters

EC approval of AQNEURSA for neurological NPC adds a new EU treatment option, subject to HTA and payer review.
Multiple designations, including ODD and RPDD for zavabresib and ISP-002, could accelerate development via incentives.
Mendra’s $82M Series A and the iXCells–Rosebud organoid effort signal investment in AI and model systems that may improve translational efficiency.
Mirum’s Bluejay acquisition expands a rare liver portfolio with brelovitug, aligning with pipeline growth strategies.
Curant Rare–Cencora collaboration targets access and commercialization hurdles, which may expand screening, initiation, and follow-up at scale

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FAQ

What is Mendra’s focus?

Mendra focuses on advancing AI-driven therapies for rare diseases, aiming to improve patient identification, trial enrollment, and global access [1].

What is IntraBio’s AQNEURSA® approved for?

AQNEURSA® has been approved for treating the neurological manifestations of Niemann-Pick Type C Disease [2].

How does Immusoft’s ISP-002 work?

ISP-002 leverages engineered B cells to continuously produce therapeutic levels of the enzyme required for treating Hunter Syndrome [5].

What is QRX003 used for?

QRX003 is under investigation for treating Netherton Syndrome, a rare skin condition, and is seeking Orphan Drug Designation [6].

Entities / Keywords

Mendra, AI, Rare Diseases, IntraBio, AQNEURSA, Niemann-Pick Type C, Curant Rare, Cencora, Opna Bio, Zavabresib, Myelofibrosis, Immusoft, ISP-002, Hunter Syndrome, Quoin Pharmaceuticals, QRX003, Netherton Syndrome, Imviva Biotech, CTD402, T-Cell Leukemia, Mirum Pharmaceuticals, Bluejay Therapeutics, iXCells, Rosebud Biosciences, Organoids.