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GenSight Biologics Secures French Regulatory Pathway for LUMEVOQ Gene Therapy in Rare Blindness Disease

Rare Disease
  • GenSight Biologics reached agreement with French regulatory agency ANSM to expedite opening of early access program for LUMEVOQ gene therapy following approval of a dose-ranging study.
  • The company targets Q3 2025 for clinical trial application submission and Q4 2025 for program launch, providing treatment access for LHON patients in France.
  • GenSight plans global Phase III trial initiation in early H2 2026 while implementing financing strategy to bridge operations through regulatory milestones.
  • The agreement represents a critical pathway for patients with Leber Hereditary Optic Neuropathy, a rare mitochondrial disease causing irreversible blindness in young adults.

Silence Therapeutics Reports Promising Phase 1 Data for Divesiran in Polycythemia Vera at EHA 2025

Orphan DrugRare Disease
  • Silence Therapeutics presented updated Phase 1 data for divesiran at EHA 2025, showing the siRNA therapy essentially eliminated the need for phlebotomies in 21 polycythemia vera patients with a combined history of 79 prior phlebotomies.
  • The SANRECO Phase 1 study demonstrated that divesiran maintained hematocrit levels at ≤45% across all dose cohorts while increasing hepcidin and ferritin levels, with no dose-limiting toxicities observed.
  • The company announced that its Phase 2 SANRECO study has exceeded 50% enrollment and remains on track for full enrollment by year-end 2025.
  • Divesiran represents a first-in-class siRNA therapy targeting TMPRSS6 to regulate iron metabolism and reduce excessive red blood cell production in polycythemia vera patients.

Study to Assess SLN124 in Patients With Polycythemia Vera

NCT05499013RecruitingPhase 1
Silence Therapeutics plc
Posted 1/26/2023

European Commission Grants Orphan Drug Designation to Florbetaben (18F) for ATTR Amyloidosis Diagnosis

Rare Disease
  • Life Molecular Imaging's florbetaben (18F) has received orphan drug designation from the European Commission for diagnosing transthyretin (ATTR) amyloidosis, expanding its diagnostic applications beyond Alzheimer's disease.
  • The radiotracer, originally approved for detecting brain amyloid plaques, is being evaluated in a Phase 3 trial to validate its efficacy in diagnosing cardiac amyloidosis using PET imaging.
  • ATTR amyloidosis remains below the orphan disease threshold despite rising incidence rates, with fewer than five cases per ten thousand inhabitants in the general population.
  • The designation supports development of improved diagnostic tools for a rare disease where early detection is crucial for accessing life-saving therapies.

Efficacy of [18F]Florbetaben PET for Diagnosis of Cardiac AL Amyloidosis

NCT05184088RecruitingPhase 3
Life Molecular Imaging GmbH
Posted 1/13/2023

Specialised Therapeutics Expands Incyte Partnership to Bring Two Novel Cancer Therapies to Asia-Pacific

Monoclonal AntibodyRare DiseaseOncology
  • Specialised Therapeutics has expanded its partnership with Incyte to include axatilimab and retifanlimab for distribution in Australia, New Zealand, and Singapore, with potential expansion to other Asia-Pacific countries.
  • Axatilimab, a first-in-class CSF-1R-blocking antibody approved by the FDA in August 2024, treats chronic graft-versus-host disease after failure of at least two prior systemic therapies.
  • Retifanlimab, a PD-1 inhibitor, is approved for treating squamous cell carcinoma of the anal canal and Merkel cell carcinoma, with Australia having the highest global incidence of the latter condition.
  • Both therapies are expected to undergo regulatory and reimbursement approval submissions in the region during 2025.

A Study to Evaluate Axatilimab and Corticosteroids as Initial Treatment for Chronic Graft-Versus-Host Disease

NCT06585774RecruitingPhase 3
Incyte Corporation
Posted 1/21/2025

A Study of Axatilimab at 3 Different Doses in Participants With Chronic Graft Versus Host Disease (cGVHD)

NCT04710576Active, Not RecruitingPhase 2
Syndax Pharmaceuticals
Posted 3/4/2021

MAXPIRe: Study to Evaluate Axatilimab in Participants With Idiopathic Pulmonary Fibrosis (IPF)

NCT06132256RecruitingPhase 2
Syndax Pharmaceuticals
Posted 12/11/2023

Phase III Study Assessing the Efficacy and Safety of Pegcetacoplan in Patients With C3 Glomerulopathy or Immune-Complex Membranoproliferative Glomerulonephritis

NCT05067127CompletedPhase 3
Apellis Pharmaceuticals, Inc.
Posted 11/12/2021

A Study to Evaluate the Safety and Efficacy of Axatilimab in Combination With Ruxolitinib in Participants With Newly Diagnosed Chronic Graft-Versus-Host Disease

NCT06388564RecruitingPhase 2
Incyte Corporation
Posted 10/11/2024

Vascarta's Vasceptor Receives FDA Orphan Drug Designation for Sickle Cell Disease Treatment

Rare Disease
  • Vascarta Inc. announced that the FDA has granted Orphan Drug Designation to Vasceptor (VAS-101), a patented topical curcumin formulation for treating Sickle Cell Disease.
  • The designation provides seven years of market exclusivity upon approval, tax credits for clinical trials, and exemption from certain FDA fees for this rare disease therapy.
  • Preclinical results demonstrate that VAS-101's novel approach targets red blood cell instability, neuro-inflammation and vascular inflammation to reduce pain and improve therapeutic efficacy.
  • The drug is currently in Phase 1 clinical trials at the Foundation for Sickle Cell Disease Research in Hollywood, Florida, using patented transdermal technology to overcome curcumin's poor oral bioavailability.

Dyne Therapeutics Reports Breakthrough Preclinical Results for FSHD Gene Therapy DYNE-302

Rare Disease
  • Dyne Therapeutics' DYNE-302 demonstrated functional improvement in a severe FSHD mouse model, with a single intravenous dose restoring treadmill running ability at peak muscle weakness.
  • The siRNA-based therapy targets DUX4 mRNA and showed correction of muscle damage and inflammation markers in skeletal muscle tissue analysis.
  • Results suggest that preexisting and severe skeletal muscle disease in FSHD may be reversible through DUX4 mRNA targeting, offering hope for the estimated 16,000-38,000 affected individuals in the United States.
  • The findings will be presented at the 32nd Annual FSHD Society's International Research Congress in Amsterdam on June 13, 2025.

AlzeCure Receives FDA Support for ACD440 Development in Rare Pain Disorder Erythromelalgia

Orphan DrugRare Disease
  • AlzeCure Pharma received positive FDA guidance for advancing ACD440, a first-in-class TRPV1 antagonist, into Phase II/III studies for treating erythromelalgia, a rare chronic pain disorder affecting 1-4 per 100,000 people.
  • The FDA confirmed significant medical need for erythromelalgia treatment, which currently has no approved therapies and causes intense burning pain and severe skin redness in extremities.
  • ACD440 is being developed as a topical gel that maintains low systemic exposure while achieving high local concentrations for maximum analgesic effect, with potential for orphan drug designation and accelerated market access.
  • The drug candidate previously completed positive Phase IIa trials in chronic peripheral neuropathic pain and is based on Nobel Prize-winning scientific research from 2021.

FDA Grants Fast Track Designation to Sumitomo's Nuvisertib for Myelofibrosis Treatment

Orphan DrugRare Disease
  • The FDA has granted Fast Track Designation to nuvisertib (TP-3654), Sumitomo Pharma America's investigational PIM1 kinase inhibitor, for treating intermediate or high-risk myelofibrosis patients.
  • Updated Phase 1/2 data presented at EHA 2025 showed nuvisertib achieved 22.2% spleen volume reduction and 44.4% symptom score improvement in evaluable patients with relapsed/refractory myelofibrosis.
  • The oral selective inhibitor demonstrated significant cytokine modulation with p<0.001 correlation between anti-inflammatory effects and clinical responses, supporting its potential as monotherapy or combination treatment.
  • Myelofibrosis affects 1 in 500,000 people worldwide and represents a serious unmet medical need with limited treatment options for patients facing poor prognosis.

A Study of Oral Nuvisertib (TP-3654) in Patients With Myelofibrosis

NCT04176198RecruitingPhase 1
Sumitomo Pharma America, Inc.
Posted 12/16/2019

Mezzion Secures $20 Million to Advance Phase 3 Trial of Udenafil for Rare Congenital Heart Disease

Rare Disease
  • Mezzion Pharma secured approximately $20 million in strategic funding led by Midas-Meritz New Technology Finance Association to support the ongoing global Phase 3 FUEL-2 trial of udenafil for Fontan circulation patients.
  • The investment represents strong institutional confidence in Mezzion's late-stage pipeline, with lead investor Midas PE citing positive FUEL-1 results and expressing belief in udenafil's potential for successful Phase 3 completion and regulatory approval.
  • The financing follows growing clinical momentum, including the introduction of dedicated ICD-10 codes for Fontan-associated conditions, marking progress in addressing this long-overlooked rare congenital heart disease population.
  • Mezzion reports accelerating enrollment and growing engagement across clinical sites for the FUEL-2 trial, with plans to continue seeking additional investments to support global development efforts.

uniQure Appoints Kylie O'Keefe as Chief Customer and Strategy Officer to Lead AMT-130 Commercialization for Huntington's Disease

Rare Disease
  • uniQure has appointed Kylie O'Keefe as Chief Customer and Strategy Officer to lead the global commercialization strategy for AMT-130, the company's investigational gene therapy for Huntington's disease.
  • O'Keefe brings extensive rare disease and gene therapy experience from her role as Chief Commercial Officer at PTC Therapeutics, where she led commercial launches across more than 50 countries.
  • The appointment positions uniQure for a potential U.S. commercial launch of AMT-130 in 2026, with the therapy having potential to become the first disease-modifying treatment for Huntington's disease.
  • AMT-130 is currently in Phase I/II clinical trials and has a clear pathway toward accelerated approval in the United States.

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