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uniQure's AMT-191 Gene Therapy Shows Sustained Enzyme Activity and ERT Discontinuation in Fabry Disease Phase I/IIa Trial

Rare DiseaseOrphan Drug
  • uniQure's AMT-191 gene therapy achieved 27- to 208-fold increases in α-galactosidase A enzyme activity above normal levels in all four patients in the first cohort of its Phase I/IIa trial.
  • All patients in the highest dose cohort successfully discontinued enzyme replacement therapy while maintaining stable plasma lyso-Gb3 biomarker levels through the study cutoff date.
  • The AAV5-based gene therapy demonstrated a manageable safety profile with sustained enzyme activity observed for up to 45 weeks in the first treated patient.
  • AMT-191 represents a potential paradigm shift in the $3.87 billion Fabry disease market by offering a one-time treatment alternative to lifelong enzyme replacement therapy.

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

NCT06270316RecruitingPhase 1
UniQure Biopharma B.V.
Posted 6/5/2024

Walden Biosciences Engages Former FDA Director to Advance WAL0921 Phase 2 Trial in Rare Kidney Diseases

Monoclonal AntibodyRare Disease
  • Walden Biosciences has engaged Norman Stockbridge, M.D., Ph.D., former FDA Director of Division of Cardiology and Nephrology, as a regulatory advisor for its rare kidney disease pipeline.
  • The company partnered with NephCure, a nonprofit patient advocacy organization, to enhance patient recruitment for its ongoing Phase 2 basket study of WAL0921.
  • WAL0921 is a first-in-class humanized monoclonal antibody targeting suPAR to treat rare chronic kidney diseases, with interim data expected in late 2025 and early 2026.
  • The Phase 2 study will enroll up to 96 subjects across multiple rare kidney disease cohorts, including FSGS, IgAN, and primary membranous nephropathy.

Biohaven Prepares for Potential First-in-Class Spinocerebellar Ataxia Drug Launch as FDA Decision Looms

Rare DiseaseDrug ApprovalOrphan Drug
  • Biohaven's Vyglxia could become the first approved treatment for spinocerebellar ataxia, a rare genetic brain disorder affecting movement and coordination, with FDA decision expected between October and December.
  • The company has established comprehensive launch infrastructure including patient hubs, insurance specialists, and sales teams, with CEO Vlad Coric stating they are "ready to ship on Day 1" following potential approval.
  • Approximately 400 patients are already receiving Vyglxia through expanded access programs, and the company estimates 6,000-7,000 of the 15,000 U.S. patients will be reachable at launch through specialized treatment centers.
  • Unlike previous competitive launches, Vyglxia faces no direct competition in the spinocerebellar ataxia market, positioning Biohaven for a streamlined commercial strategy with a sales team less than 10% the size used for their previous migraine drug.

Wave Life Sciences' RNA Editing Therapy Shows Therapeutic Promise in Alpha-1 Antitrypsin Deficiency Despite Mixed Investor Reception

Rare Disease
  • Wave Life Sciences' experimental RNA editing medicine WVE-006 successfully helped patients with alpha-1 antitrypsin deficiency produce therapeutically relevant levels of a critical protein their bodies cannot make.
  • The therapy achieved total AAT protein levels of 11.9-12.8 micromolars across different dosing regimens, meeting regulatory thresholds for approval while demonstrating no serious adverse events.
  • Despite the clinical success, Wave shares dropped nearly 20% as the results fell slightly short of heightened investor expectations for protein expression levels.
  • The findings validate RNA editing as a viable therapeutic approach and may benefit other companies developing similar treatments, including Korro Bio and Beam Therapeutics.

Andelyn Biosciences Partners with Tern Therapeutics for Late-Stage Manufacturing of CLN2 Batten Disease Gene Therapy

Rare Disease
  • Andelyn Biosciences has partnered with Tern Therapeutics to perform late-stage process performance qualification manufacturing of TTX-381, an investigational gene therapy for vision loss in CLN2 Batten disease.
  • TTX-381 is a one-time subretinal AAV gene therapy designed to deliver a functional copy of the TPP1 gene directly to retinal cells to restore enzyme activity and preserve vision.
  • CLN2 Batten disease affects 0.5 per 100,000 live births, with children experiencing rapid vision loss that can lead to complete blindness as early as age seven.
  • The collaboration leverages Andelyn's expertise in AAV vector manufacturing and proven PPQ batch production capabilities to advance this therapy toward potential commercial approval.

Savara Reports 50% Increase in Autoimmune PAP Patient Population, Plans December 2025 FDA Resubmission for MOLBREEVI

Rare DiseaseOrphan Drug
  • Savara's updated health claims analysis identifies approximately 5,500 autoimmune PAP patients in the U.S., representing a 50% increase from the company's previous 2023 estimate of 3,600 patients.
  • The revised analysis used a more comprehensive dataset with over three times the number of records compared to the previous study, suggesting improved awareness and diagnosis rates for this rare lung disease.
  • The company plans to resubmit its Biologics License Application for MOLBREEVI to the FDA in December 2025 with priority review request, following publication of positive Phase 3 IMPALA-2 trial results in the New England Journal of Medicine.
  • With no approved medicines currently available in the U.S. for autoimmune PAP, the increased patient population estimate reinforces the significant unmet medical need for this debilitating condition.

Lantern Pharma Receives FDA Guidance for Pediatric CNS Cancer Trial Targeting ATRT

Orphan DrugAIRare Disease
  • Lantern Pharma completed a Type C meeting with the FDA, receiving critical guidance on the regulatory pathway and trial design for a planned pediatric CNS cancer trial targeting Atypical Teratoid Rhabdoid Tumor (ATRT).
  • The FDA confirmed the potential incorporation of spironolactone as a combination agent with LP-184/STAR-001 to assess synergistic effects in enhancing efficacy against CNS cancers.
  • The company's ATRT program has received both Rare Pediatric Disease Designation and Orphan Drug Designation from the FDA, highlighting the urgent unmet medical need.
  • Lantern plans to submit an IND application amendment based on FDA guidance, with trial initiation targeted for Q1 2026.

MEDIPAL Holdings and JCR Pharmaceuticals Partner on Novel GM2 Gangliosidosis Therapy JR-479

Rare Disease
  • MEDIPAL Holdings and JCR Pharmaceuticals have signed an exclusive global licensing deal for JR-479, an investigational therapy targeting GM2 gangliosidosis, an ultra-rare lysosomal storage disorder affecting one in 300,000 people worldwide.
  • JR-479 utilizes JCR's proprietary J-Brain Cargo platform technology to penetrate the blood-brain barrier and deliver treatment to the central nervous system, showing promising preclinical results in reducing disease substrates and extending survival.
  • Under the partnership, MEDIPAL gains exclusive worldwide development and commercialization rights outside Japan, while JCR leads domestic commercialization and receives upfront payments plus overseas royalties.
  • This marks the third collaboration between the companies for ultra-rare diseases, following previous agreements for fucosidosis and mucopolysaccharidosis type IIIB treatments.

Step Pharma Initiates Phase 1b Trial of Dencatistat for Essential Thrombocythaemia

Rare DiseaseTargeted Therapy
  • Step Pharma has dosed the first participant in a phase 1b clinical trial evaluating dencatistat for essential thrombocythaemia, marking the third indication for this first-in-class CTPS1 inhibitor.
  • The open-label trial will assess safety, tolerability, and preliminary activity in approximately 20 adults with high-risk essential thrombocythaemia who are resistant to or intolerant of hydroxycarbamide therapy.
  • Previous lymphoma trials demonstrated that dencatistat produces dose-dependent and reversible platelet count reduction, providing rationale for its investigation in essential thrombocythaemia treatment.
  • The study expands Step Pharma's clinical program beyond lymphoma and solid tumours, demonstrating the versatility of their "pipeline in a product" strategy.

A Phase 1 Study to Assess STP938 as a Monotherapy in Adults With High Risk Essential Thrombocythaemia

NCT06786234RecruitingPhase 1
Step Pharma, SAS
Posted 6/18/2025

KALA BIO Names Todd Bazemore as Permanent CEO Ahead of Pivotal Phase 2b Trial Readout

Orphan DrugRare Disease
  • KALA BIO has appointed Todd Bazemore as permanent President and CEO, transitioning from his interim role since February 2025.
  • The company is approaching a critical Phase 2b CHASE trial readout for KPI-012 in persistent corneal epithelial defect, a rare orphan disease with no FDA-approved treatments.
  • Bazemore brings over 30 years of biopharmaceutical experience and will lead KALA's potential transition from clinical-stage to commercial operations.
  • KPI-012 utilizes KALA's proprietary mesenchymal stem cell secretome platform and has received Orphan Drug and Fast Track designations from the FDA.

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