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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.

Secura Bio Initiates Phase 3 TERZO Trial of COPIKTRA for Rare T-Cell Lymphoma

Rare DiseaseOncology
  • Secura Bio has dosed the first patient in its Phase 3 TERZO study evaluating COPIKTRA (duvelisib) for relapsed or refractory nodal T-follicular helper cell lymphoma, a rare cancer with no established treatment standards.
  • The randomized controlled trial will compare duvelisib against investigator's choice of gemcitabine or bendamustine in approximately 124 patients across the European Union and United Kingdom.
  • COPIKTRA is the first US-approved dual PI3K-delta and PI3K-gamma inhibitor, currently indicated for chronic lymphocytic leukemia after at least two prior therapies.
  • Interim data from this first Phase 3 study of a PI3K inhibitor in this rare lymphoma indication is anticipated in early 2027.

A Study of Duvelisib Versus Gemcitabine or Bendamustine in Participants With Relapsed/Refractory Nodal T Cell Lymphoma With T Follicular Helper (TFH) Phenotype

NCT06522737RecruitingPhase 3
SecuraBio
Posted 5/19/2025

Revolutionary Gene Therapy and BBB-Penetrating Treatments Transform Hunter Syndrome Treatment Landscape

Rare DiseaseDrug Approval
  • RGX-121, a one-time gene therapy using AAV vector technology, is expected to receive regulatory approval in the second half of 2025, potentially offering lifelong benefits from a single infusion for Hunter Syndrome patients.
  • Tividenofusp alfa and Verenafusp alfa represent breakthrough therapies designed to cross the blood-brain barrier, addressing both CNS and somatic symptoms that current treatments like Elaprase cannot reach.
  • The Hunter Syndrome treatment paradigm is shifting from weekly enzyme replacement therapy costing over $500,000 annually to potentially curative single-dose treatments targeting neurological decline.
  • IZCARGO, launched in Japan in 2021, currently stands as the only approved therapy addressing both somatic and CNS symptoms by crossing the blood-brain barrier, though availability remains limited to the Japanese market.

Safety and Efficacy of HMI-203 in ERT-Treated Adults With MPS II

NCT05238324WithdrawnPhase 1
Homology Medicines, Inc
Posted 9/8/2022

Four Promising Gene and Cell Therapies Challenge Aldurazyme's Dominance in MPS I Treatment

Orphan DrugRare Disease
  • Four innovative therapies are advancing through clinical trials to address critical unmet needs in MPS I treatment, particularly targeting central nervous system complications that current therapy Aldurazyme cannot reach.
  • Orchard Therapeutics' OTL-203 gene therapy is progressing through Phase III trials with planned US submission in 2028, while JCR Pharmaceuticals' JR-171 offers blood-brain barrier penetration capabilities.
  • REGENXBIO's RGX-111 gene therapy recently secured a strategic partnership with Nippon Shinyaku for development in the US and Asia, and Immusoft's ISP-001 cell therapy reported encouraging Phase I results.
  • These next-generation treatments aim to provide superior neurological efficacy and patient convenience compared to the current standard requiring lifelong weekly infusions.

Researchers Identify Two Drug Candidates for Ultra-Rare X-Linked Myopathy Using Zebrafish Model

Rare DiseaseDrug Discovery
  • Researchers have identified two potential drug candidates for treating X-linked myopathy with excessive autophagy (XMEA), an ultra-rare genetic disease documented in only 33 cases globally as of March 2024.
  • The study utilized zebrafish as a model organism to investigate XMEA, which is caused by mutations in the VMA21 gene and leads to progressive muscle weakness affecting the liver and heart.
  • The identified compounds showed promise in mitigating XMEA-related muscle degeneration, representing a significant step forward for a condition that currently lacks effective treatment options.
  • Further testing will be required to confirm the efficacy and safety of these drug candidates before potential clinical application in humans.

FDA Rejects Elamipretide for Rare Mitochondrial Disease Despite Patient Improvements

Rare DiseaseOrphan Drug
  • The FDA's Division of Cardiology and Nephrology rejected elamipretide's new drug application on May 29, 2025, despite reported improvements in patients with rare mitochondrial diseases.
  • Four-year-old Hope Filchak with Microphthalmia with Linear Skin Defects syndrome showed stabilized heart function and increased energy after 18 months of elamipretide treatment.
  • Stealth Biotherapeutics has reduced overhead by 30% and estimates it can continue manufacturing for only six to nine months without FDA approval.
  • The FDA's rejection was partly based on lack of improvement in six-minute walk tests, which experts argue is not an appropriate outcome measure for mitochondrial diseases.

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