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SpliceBio Raises $135 Million Series B to Advance Gene Therapy for Stargardt Disease Using Novel Protein Splicing Platform

Rare Disease
  • SpliceBio secured $135 million in Series B funding co-led by EQT Life Sciences and Sanofi Ventures to advance its lead gene therapy candidate SB-007 for Stargardt disease.
  • The company's innovative Protein Splicing platform overcomes the challenge of delivering large genes by splitting them into smaller pieces that reassemble into full-length proteins.
  • SB-007 targets Stargardt disease, the most common inherited macular degeneration affecting 1 in 8,000-10,000 people with no approved treatments currently available.
  • The technology has potential to address over 1,200 known mutations causing Stargardt disease and could unlock treatments for other genetic disorders involving large genes.

SIFI Merges with Faes Farma to Expand Global Access to Akantior, First Approved Therapy for Rare Eye Infection

Orphan DrugRare DiseaseDrug Approval
  • SIFI, a leading international ophthalmic company, has agreed to merge with European pharmaceutical company Faes Farma in a transaction that positions ophthalmology as approximately 20% of the combined entity's pro-forma revenue.
  • The merger will accelerate development of Akantior (polihexanide 0.08%), the first and only approved therapy worldwide for Acanthamoeba Keratitis, particularly targeting expansion into the US market where it has orphan drug designation.
  • The combined entity will leverage commercial synergies across complementary markets in Europe and Latin America, while also advancing polihexanide development for additional orphan indications including Fungal Keratitis.
  • The transaction values SIFI at a double-digit multiple of 2024 EBITDA plus regulatory and commercial milestone-based earn-outs, with closing expected in Q3 2025 subject to regulatory approvals.

Nuevocor Receives FDA IND Clearance for Gene Therapy Targeting Rare Genetic Heart Disease

Rare Disease
  • Nuevocor announced FDA clearance of its Investigational New Drug application for NVC-001, an AAV-based gene therapy designed to treat LMNA-related dilated cardiomyopathy.
  • The therapy targets approximately 100,000 patients in the U.S. and Europe with this aggressive form of genetic heart disease that rapidly progresses to end-stage heart failure.
  • NVC-001 demonstrated significant benefits in survival and cardiac function in preclinical studies by addressing the mechanobiological root cause of disease.
  • The company plans to initiate a first-in-human Phase 1/2 clinical trial in early 2026 to evaluate safety, tolerability, and preliminary efficacy.

Gyre Therapeutics Initiates Phase 1 Trial of F230 for Pulmonary Arterial Hypertension in China

Rare Disease
  • Gyre Therapeutics has successfully dosed the first volunteer in a Phase 1 clinical trial evaluating F230, a novel endothelin A receptor antagonist, for treating pulmonary arterial hypertension in China.
  • F230 is a fully synthetic small molecule designed to selectively block the ETA receptor, targeting pulmonary vascular remodeling and pressure reduction in PAH patients.
  • This milestone marks Gyre's expansion into the PAH field, leveraging China's growing PAH market valued at $370 million in 2023 and projected to reach $480 million by 2031.
  • The Phase 1 trial will evaluate safety, tolerability, and pharmacokinetics in healthy volunteers as part of Gyre's fibrosis-first therapeutic strategy.

Vanda Pharmaceuticals Initiates First-in-Human Trial of Personalized ASO Therapy VCA-894A for Ultra-Rare CMT2S

Rare Disease
  • Vanda Pharmaceuticals has dosed the first patient in a first-in-human clinical trial evaluating VCA-894A, an antisense oligonucleotide therapy designed for a specific patient with Charcot-Marie-Tooth disease Type 2S.
  • VCA-894A targets a patient-specific IGHMBP2 gene variant and has demonstrated ability to restore gene expression levels in neuromuscular junction systems derived from the patient's own cells.
  • CMT2S is an extremely rare inherited neuromuscular disorder with an estimated prevalence of less than 1 in 1,000,000 worldwide, causing progressive muscle weakness and motor function loss.
  • This personalized medicine approach represents a potential breakthrough for addressing rare genetic disorders using nucleic acid-based platforms to restore function where crucial gene expression has been disrupted.

Insmed's TPIP Achieves Breakthrough Results in Phase 2b PAH Trial with 35% Reduction in Pulmonary Vascular Resistance

Rare Disease
  • Insmed's treprostinil palmitil inhalation powder (TPIP) met its primary endpoint with a statistically significant 35% placebo-adjusted reduction in pulmonary vascular resistance in patients with pulmonary arterial hypertension.
  • The once-daily inhaled therapy demonstrated sustained 24-hour efficacy with a 35.5-meter improvement in six-minute walk distance and 60% reduction in cardiac stress biomarker NT-proBNP.
  • TPIP was well-tolerated with 75% of patients achieving the maximum dose, prompting Insmed to engage with FDA for Phase 3 trial design beginning in 2025-2026.

Alexion Partners with Pangaea Data to Develop AI System for Hypophosphatasia Detection

AIRare Disease
  • Alexion, AstraZeneca's rare disease division, has entered a collaboration with AI platform provider Pangaea Data to develop an artificial intelligence clinical decision support system for detecting hypophosphatasia in adults.
  • The AI system will analyze electronic health records to improve detection of hypophosphatasia, a rare inherited disorder affecting bone mineralization that often remains undiagnosed due to diverse and non-specific symptoms.
  • Hypophosphatasia affects approximately one in 100,000 people in the general population, with patients typically waiting years for accurate diagnosis due to the condition's complex nature and variable clinical presentation.
  • Pangaea Data's AI platform has previously been configured to detect 42 other hard-to-diagnose conditions and will be reconfigured specifically for hypophosphatasia detection through this Alexion-funded partnership.

FDA Grants Fast Track Designation to Syntara's SNT-5505 for Myelofibrosis Treatment

Rare Disease
  • The US FDA has granted Fast Track designation to Syntara's SNT-5505 for treating myelofibrosis patients with inadequate response to JAK inhibitor therapy.
  • SNT-5505 represents a novel therapeutic approach by inhibiting lysyl oxidases, addressing significant unmet medical needs in this rare bone marrow cancer.
  • The designation enables more frequent FDA interactions, eligibility for Priority Review and Accelerated Approval, potentially expediting patient access to treatment.
  • Clinical studies have demonstrated that SNT-5505 improves patient quality of life with an excellent safety and tolerability profile.

Beacon Therapeutics Appoints Gene Therapy Veteran Dr. Daniel Chung as Chief Medical Officer

Rare Disease
  • Beacon Therapeutics has appointed Dr. Daniel Chung as Chief Medical Officer, bringing over three decades of experience in clinical ophthalmology and gene therapy development.
  • Dr. Chung previously played an instrumental role in developing Luxturna, the first FDA and EMA-approved gene therapy for a blinding genetic disease.
  • The appointment comes as Beacon approaches completion of enrollment for its registrational Phase 2/3 VISTA trial of laru-zova for X-linked retinitis pigmentosa.
  • Beacon recently announced positive six-month interim safety and efficacy results from the Phase 2 DAWN trial of laru-zova in patients with X-linked retinitis pigmentosa.

Avanzanite Partners with Agios to Commercialize First-in-Class Pyruvate Kinase Activator Across Europe

Rare DiseaseDrug ApprovalOrphan Drug
  • Avanzanite Bioscience has secured exclusive European commercialization rights for PYRUKYND® (mitapivat), a first-in-class pyruvate kinase activator approved for treating adults with PK deficiency.
  • The partnership covers distribution across the European Economic Area, UK, and Switzerland, addressing an ultra-rare inherited condition that previously had no approved treatments.
  • Avanzanite plans to expand into 32 European countries over the next 12 months, having already tripled its Q1 2025 revenue year-over-year with two rare disease medicines currently on market.

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