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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.

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.

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