Rare Disease Video Recap—January 29, 2026

This biweekly Rare Disease Video Recap highlights significant regulatory approvals, clinical trial advancements, new partnerships, and other key developments. It provides a comprehensive overview of the most relevant progress in the field.

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Weeks 15–21 January 2026
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Transcript

Welcome to the latest edition of Rare Diseases Updates, covering breakthroughs in the past two weeks. Brought to you by LucidQuest.

Sobi has received European Commission approval for Aspaveli® (pegcetacoplan) for the treatment of C3 Glomerulopathy (C3G) and primary Immune-Complex Membranoproliferative Glomerulonephritis (IC-MPGN). This approval marks Aspaveli® as the first approved treatment for these rare kidney diseases in patients aged 12 and older. It represents a significant advancement in the field, offering new hope to patients who previously had few therapeutic options available.

Atossa Therapeutics has been granted FDA Orphan Drug Designation for (Z)-endoxifen in the treatment of Duchenne Muscular Dystrophy (DMD). The designation accelerates the clinical development of this promising candidate, which shows potential in addressing this severe neuromuscular condition. This offers new hope for patients and their families, bringing them closer to an effective treatment.

Tanabe Pharma has announced positive results for MT-7117 in treating Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP). The Phase 3 trial demonstrated that MT-7117 significantly improved patient outcomes and met its primary endpoints. This breakthrough treatment provides new options for those suffering from these rare, light-sensitive skin disorders.

Recordati Rare Diseases has launched Isturisa® (osilodrostat) in Canada for the treatment of adults with Cushing’s disease. This drug helps control high cortisol levels in patients who cannot undergo surgery or have not responded to surgical treatments. Its availability in Canada offers an important new treatment option for patients suffering from this condition.

IntraBio has received European Commission approval for AQNEURSA® to treat the neurological manifestations of Niemann-Pick Type C disease. AQNEURSA® becomes the first authorized treatment for this rare, progressive disease, providing a much-needed therapeutic option for patients and significantly improving their quality of life.

Quoin Pharmaceuticals has submitted an application for Orphan Drug Designation for QRX003 in the treatment of Netherton Syndrome. QRX003 is targeting this rare genetic skin disorder, and if granted, the designation will expedite its development, offering a new treatment avenue for those affected by the condition.

Mirum Pharmaceuticals has completed the acquisition of Bluejay Therapeutics, expanding its portfolio in the rare disease space. This acquisition includes brelovitug, a potential treatment for chronic hepatitis delta virus (HDV). The deal strengthens Mirum’s position in rare liver diseases and accelerates the development of brelovitug, bringing hope to patients with this challenging condition.

Opna Bio has received FDA Orphan Drug Designation for Zavabresib, an investigational treatment for myelofibrosis. Zavabresib, when used in combination with ruxolitinib, shows promise in treating this debilitating blood cancer. The designation provides critical regulatory support to expedite its clinical development, benefiting patients suffering from advanced myelofibrosis.

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Why it matters

EC approvals for Aspaveli and AQNEURSA expand EU options in renal complement disorders and NPC.
Multiple ODD moves, including DMD, myelofibrosis, and Netherton syndrome, point to sustained rare-disease investment.
Canada access to osilodrostat may improve cortisol control where surgery is ineffective or not possible.
Mirum’s HDV entry underscores consolidation around late-stage rare liver assets.
Positive Phase 3 data in EPP/XLP could introduce an oral option across adolescent and adult populations.

🗓️ Explore weekly details and sources

Weeks 15–21 January 2026
Week 22–28 January 2026

📚 Find your one-stop page for the full Rare Disease archive.

FAQ

What is Aspaveli® used for?

Aspaveli® is approved for treating C3 Glomerulopathy (C3G) and primary IC-MPGN in patients aged 12 and older [1].

What is QRX003 being developed for?

QRX003 is being developed for Netherton Syndrome, a rare skin disorder [6].

What does FDA Orphan Drug Designation for Zavabresib mean?

This designation supports accelerated development for Zavabresib, a treatment for myelofibrosis [8].

Entities / Keywords

Sobi, Aspaveli, C3G, IC-MPGN, Atossa Therapeutics, (Z)-Endoxifen, Duchenne Muscular Dystrophy, Tanabe Pharma, MT-7117, Erythropoietic Protoporphyria, XLP, Recordati Rare Diseases, Isturisa, Cushing’s Disease, IntraBio, AQNEURSA, Niemann-Pick Type C, Quoin Pharmaceuticals, QRX003, Netherton Syndrome, Mirum Pharmaceuticals, Bluejay Therapeutics, Opna Bio, Zavabresib, Myelofibrosis.