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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.

Novo Nordisk to Present Phase 3 Hemophilia Trial Data at ISTH 2025 Congress

Rare Disease
  • Novo Nordisk will present new phase 3 trial data for two investigational hemophilia treatments, Mim8 (denecimig) and concizumab, at the International Society on Thrombosis and Haemostasis Congress from June 21-25, 2025.
  • The FRONTIER5 phase 3 trial will evaluate the safety of switching patients directly from emicizumab to Mim8, an investigational mimetic therapy designed to replicate missing clotting factors.
  • Data from explorer7 and explorer8 phase 3 trials will assess concizumab's effectiveness in preventing joint bleeds, non-joint bleeds, and reducing annualized bleeding rates in both hemophilia A and B patients.
  • The presentations will cover treatment outcomes across hemophilia A and B patients with and without inhibitors, addressing critical unmet needs in this rare bleeding disorder affecting approximately 1.125 million people worldwide.

GenEditBio Doses First Patient in World's First In Vivo CRISPR Trial for TGFBI Corneal Dystrophy

Rare Disease
  • GenEditBio has dosed the first patient in a groundbreaking investigator-initiated trial of GEB-101, marking the world's first clinical study of an in vivo CRISPR-Cas ribonucleoprotein-based genome editing therapy for TGFBI corneal dystrophy.
  • The open-label, dose-escalation study is investigating GEB-101's tolerability when combined with standard phototherapeutic keratectomy in adults with corneal dystrophy, with the first patient discharged without observable adverse events.
  • GEB-101 represents a potential once-and-done treatment using CRISPR-Cas technology delivered via GenEditBio's proprietary protein delivery vehicle, targeting mutations in the TGFBI gene that cause abnormal protein buildup in the corneal stroma.
  • The therapy demonstrated high safety profiles with virtually undetectable off-target effects in non-human primate studies, earning recognition with an Excellence in Research Award at the American Society of Gene and Cell Therapy meeting.

Hemispherian's GLIX1 Receives EMA Orphan Drug Designation for Glioma Treatment

OncologyRare Disease
  • The European Medicines Agency's Committee for Orphan Medicinal Products issued a positive opinion recommending Orphan Drug Designation for GLIX1, Hemispherian's lead molecule targeting glioma.
  • Non-clinical studies demonstrated significant tumor reduction and extended survival in validated animal models, with some cases achieving complete tumor eradication.
  • The designation provides 10 years of market exclusivity in the EU upon approval and regulatory guidance during clinical development.
  • Current glioblastoma therapies offer limited survival benefits with median overall survival typically less than 15 months, highlighting the urgent unmet medical need.

Elgan Pharma and Chiesi Begin Phase 3 Trial of ELGN-2112 for Intestinal Malabsorption in Preterm Infants

Rare Disease
  • Elgan Pharma and Chiesi Group have dosed the first patients in FIT-PIV, a Phase 3 trial evaluating ELGN-2112 for intestinal malabsorption in preterm infants.
  • The study will enroll 420 infants born at 26-32 weeks gestation across 50 sites in the UK, Europe, Israel and the United States.
  • ELGN-2112 is a proprietary recombinant human insulin formulation designed to improve gastrointestinal function and reduce complications in premature babies.
  • Previous trials showed infants treated with ELGN-2112 reached nutrition goals earlier and had shorter parenteral nutrition requirements with fewer complications.

Efficacy and Safety of ELGN-2112 on Intestinal Malabsorption in Preterm Infants

NCT05670951RecruitingPhase 3
Elgan Pharma Ltd.
Posted 2/20/2025

First Clinical Trial Shows Nicotinamide Riboside Improves Multiple Health Outcomes in Werner Syndrome Patients

Rare Disease
  • Japanese researchers conducted the world's first rigorous clinical trial of nicotinamide riboside (NR) in Werner syndrome patients, showing significant improvements in cardiovascular health, skin ulcers, and kidney function.
  • The randomized, double-blind, placebo-controlled crossover trial demonstrated that NR supplementation increased NAD+ blood levels and improved arterial stiffness without serious side effects.
  • Results suggest NR could address fundamental NAD+ depletion mechanisms in Werner syndrome, offering new hope for patients with this rare premature aging disorder that currently lacks effective treatments.
  • The study's findings may have broader implications for understanding aging biology and developing interventions for age-related diseases beyond Werner syndrome.

Kennedy Pledges Accelerated FDA Approvals for Rare Disease Therapies to Maintain US Biotech Leadership

Drug ApprovalRare Disease
  • Health Secretary Robert F. Kennedy Jr. announced plans to fast-track FDA approvals for rare disease treatments and remove regulatory obstacles during a meeting focused on cell and gene therapies.
  • FDA's new biologics chief Vinay Prasad committed to rapidly making therapies available at the first sign of biomedical success, addressing industry concerns about regulatory barriers.
  • Panel experts warned that slower US approval processes risk losing biotechnology leadership to countries like China, potentially forcing companies to relocate trials overseas.
  • Biotech stocks responded positively, with therapy developers seeing gains of 1-8% following the regulatory reform announcements.

VeonGen Therapeutics Receives FDA Rare Pediatric Disease Designation for Stargardt Disease Gene Therapy VG801

Rare Disease
  • VeonGen Therapeutics (formerly ViGeneron) announced FDA Rare Pediatric Disease Designation for VG801, a dual AAV gene therapy targeting Stargardt disease and ABCA4-related retinal disorders.
  • The company is advancing two first-in-class gene therapies in clinical trials, with VG801 currently in a Phase 1/2 trial and functional endpoint development through FDA's RDEA program.
  • VeonGen's proprietary platforms include vgRNA REVeRT for delivering large genes exceeding AAV cargo limits and vgAAV for enhanced capsid delivery in ophthalmology applications.
  • Stargardt disease affects approximately 1 in 8,000 to 10,000 people worldwide and represents the most common inherited retinal disease with no approved treatments.

Study of Subretinally Injected AAVB-081 in Patients With Usher Syndrome Type IB (USH1B) Retinitis Pigmentosa

NCT06591793RecruitingPhase 1
AAVantgarde Bio Srl
Posted 7/2/2024

An Observational Study in Children and Adults With Stargardt Disease

NCT06591806Recruiting
AAVantgarde Bio Srl
Posted 5/1/2024

Scinai Immunotherapeutics Surges 104% Following Italian Regulatory Clearance for Pincell Acquisition

Monoclonal AntibodyOrphan DrugRare Disease
  • Scinai Immunotherapeutics shares soared 104% to $5.15 after receiving Italian government clearance under Golden Power regulation to potentially acquire 100% of Italian biotech Pincell S.r.l.
  • The acquisition would add PC111, a monoclonal antibody targeting the Fas/FasL pathway for severe skin conditions including Pemphigus, Stevens-Johnson Syndrome, and Toxic Epidermal Necrolysis, which has received Orphan Drug Designation from the European Medicines Agency.
  • While the regulatory approval removes a major hurdle, the deal remains contingent on additional conditions including a €12 million grant decision expected by mid-July to early August 2025.
  • The move represents a significant expansion opportunity for Scinai, which operates dual business units in inflammation/immunology drug development and contract manufacturing services.

Mediar Therapeutics Initiates Phase 2 Trial of First-in-Class Anti-WISP1 Antibody for Idiopathic Pulmonary Fibrosis

Monoclonal AntibodyRare Disease
  • Mediar Therapeutics has dosed the first patient in its Phase 2 WISPer trial evaluating MTX-463, a first-in-class anti-WISP1 antibody for idiopathic pulmonary fibrosis treatment.
  • The randomized, double-blind, placebo-controlled study will measure changes in forced vital capacity at 24 weeks as its primary endpoint in IPF patients.
  • MTX-463 targets the myofibroblast, the key pathogenic cell driving fibrosis progression, representing a novel therapeutic approach for this devastating disease.
  • The company has entered a global licensing agreement with Eli Lilly to advance MTX-463 through the Phase 2 trial, while independently developing two additional fibrosis programs.

WISPer: Evaluation of MTX-463 in Participants With Idiopathic Pulmonary Fibrosis (IPF)

NCT06967805RecruitingPhase 2
Mediar Therapeutics
Posted 5/5/2025

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