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Zorevunersen Shows Promising Cognitive and Behavioral Improvements in Dravet Syndrome Phase 3 Trial Analysis

Rare DiseaseOrphan Drug
  • Biogen and Stoke Therapeutics presented new data showing zorevunersen improved cognition and behavior at Week 68 in a Phase 3 dosing regimen analysis for Dravet syndrome patients.
  • The mixed-effects model analysis demonstrated improvements in multiple cognitive and behavioral measures that contrasted with natural history data from standard-of-care treatment.
  • The findings support the inclusion of five Vineland-3 Adaptive Behavior Scale sub-domains as key secondary endpoints in the ongoing Phase 3 EMPEROR study.
  • Zorevunersen represents a potential first-in-class disease-modifying treatment targeting the underlying genetic cause of Dravet syndrome, with no current approved therapies addressing cognitive and behavioral aspects.

Genomenon and UCB Partner to Advance Thymidine Kinase 2 Deficiency Diagnosis Through Genomic Intelligence

Rare Disease
  • Genomenon and UCB have formed a strategic partnership to accelerate awareness, diagnosis, and research for thymidine kinase 2 deficiency (TK2d), a rare mitochondrial disease characterized by progressive muscle weakness.
  • The collaboration has resulted in the curation and classification of nearly 100 TK2 gene variants, with approximately 40% being previously unrepresented in ClinVar and 25% classified as pathogenic or likely pathogenic.
  • Through Genomenon's AI-powered genomic intelligence platform and expert curation, the comprehensive variant data is now freely available to global clinical communities via both Mastermind and ClinVar databases.
  • The partnership aims to reduce barriers to genetic diagnosis and resolve variants of uncertain significance, ultimately improving patient outcomes for individuals with rare diseases.

Ultragenyx and Mereo BioPharma Advance Setrusumab Phase 3 Studies for Osteogenesis Imperfecta Toward Year-End Analysis

Monoclonal AntibodyRare Disease
  • Ultragenyx and Mereo BioPharma announced that the Phase 3 Orbit study evaluating setrusumab (UX143) in pediatric and young adult patients with osteogenesis imperfecta is progressing toward final analysis around the end of 2025.
  • The Data Monitoring Committee confirmed setrusumab demonstrates an acceptable safety profile and recommended continuing the study to final analysis after at least 18 months of therapy.
  • The companies are developing setrusumab, a fully human monoclonal antibody targeting sclerostin, for a rare genetic bone disorder affecting approximately 60,000 people globally with no approved treatments.
  • Final analyses for both the Orbit study (p<0.04 threshold) and Cosmic study (p<0.05 threshold) are expected around the end of the year.

Benitec Biopharma Advances BB-301 Gene Therapy Trial for OPMD Following Positive Safety Review

Rare Disease
  • Benitec Biopharma's independent Data Safety Monitoring Board recommended continuation of the Phase 1b/2a clinical trial for BB-301 after completing safety review of all six subjects in Cohort 1.
  • The sixth and final subject of Cohort 1 was safely treated with the low dose of BB-301 in April 2025, demonstrating a benign safety profile with direct intramuscular delivery.
  • Following the positive safety recommendation, enrollment of Cohort 2 is expected to begin in Q4 2025, advancing the novel gene therapy for oculopharyngeal muscular dystrophy.
  • BB-301 utilizes Benitec's proprietary "Silence and Replace" platform, combining RNA interference with gene therapy to simultaneously silence mutant genes and deliver functional replacement proteins.

A Study to Evaluate the Safety and Clinical Activity of Intramuscular Doses of BB-301 Administered to Subjects With Oculopharyngeal Muscular Dystrophy With Dysphagia

NCT06185673RecruitingPhase 1
Benitec Biopharma, Inc.
Posted 11/28/2023

Rhythm Pharmaceuticals' Setmelanotide Shows Breakthrough Results in Rare Hypothalamic Obesity Trial

Rare DiseaseOrphan Drug
  • Rhythm Pharmaceuticals' setmelanotide achieved a 19.8% BMI reduction at 52 weeks in the Phase 3 TRANSCEND trial for acquired hypothalamic obesity, with 80% of patients achieving clinically meaningful weight loss.
  • The company plans to submit regulatory applications to FDA and EMA by Q3 2025 for the first-ever approved therapy for acquired hypothalamic obesity, affecting approximately 50,000 patients globally.
  • With no current approved treatments for this rare condition caused by hypothalamic damage, setmelanotide could capture a market worth $1.5-2.5 billion in peak sales at rare disease pricing levels.

A Study to Assess Efficacy and Safety of LB54640 in Patients With Hypothalamic Obesity

NCT06046443Active, Not RecruitingPhase 2
Rhythm Pharmaceuticals, Inc.
Posted 7/11/2024

Experimental CoQ10 Precursor Treatment Shows Dramatic Results in 8-Year-Old with Rare Fatal Disease

Rare Disease
  • An 8-year-old boy with HPDL deficiency, a rare mitochondrial disease causing paralysis and often death, showed dramatic improvement after receiving an experimental treatment with 4-hydroxybenzoate (4-HB).
  • The treatment, developed by NYU Langone researchers, bypasses the defective HPDL enzyme by providing CoQ10 precursors directly, allowing cells to produce the essential antioxidant needed for mitochondrial function.
  • Within two months of treatment, the child progressed from needing a wheelchair to walking long distances and running, representing the first successful demonstration of reversing neurological symptoms in primary CoQ10 deficiency.
  • The breakthrough emerged from mouse studies showing 90% survival rates when treated with CoQ10 precursors, compared to death within 15 days without treatment.

KALA BIO Completes Phase 2b PCED Trial Enrollment, No FDA-Approved Options Exist

Orphan DrugRare Disease
  • KALA BIO has completed enrollment of 79 patients in the CHASE Phase 2b trial evaluating KPI-012 for persistent corneal epithelial defect (PCED), with topline results expected by Q3 2025.
  • The trial represents a significant milestone for treating an estimated 100,000 Americans with PCED, as no FDA-approved products currently exist with broad indication for all underlying etiologies.
  • KPI-012, a human mesenchymal stem cell secretome therapy, has received both Orphan Drug and Fast Track designations from the FDA for PCED treatment.
  • The CHASE trial could potentially serve as a pivotal study to support a Biologics License Application submission, contingent on positive results and regulatory discussions.

Solid Biosciences Receives FDA and Health Canada Approval for First-in-Class Gene Therapy Targeting Fatal Heart Rhythm Disorder

Orphan DrugRare Disease
  • Solid Biosciences has received FDA IND and Health Canada CTA approval for SGT-501, a novel gene therapy designed to treat catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare genetic heart condition that can cause sudden death.
  • SGT-501 represents the first potential therapy to address the underlying mechanisms of CPVT by delivering a functional copy of the CASQ2 gene to stabilize calcium regulation in heart muscle cells.
  • The company plans to initiate a Phase 1b clinical trial in the fourth quarter of 2025, marking a significant milestone for patients with this life-threatening condition that currently has no approved treatments.
  • CPVT affects approximately 1 in 10,000 individuals globally and is often triggered by physical activity or emotional stress, leading to dangerous arrhythmias in otherwise healthy hearts.

A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)

NCT06138639RecruitingPhase 1
Solid Biosciences Inc.
Posted 5/6/2024

Recursion Pharmaceuticals Acquires Full Rights to REV102, Potential First-in-Class Oral ENPP1 Inhibitor for Hypophosphatasia

Rare Disease
  • Recursion Pharmaceuticals acquired full rights to REV102, a potential first-in-class oral ENPP1 inhibitor for hypophosphatasia (HPP), from joint venture partner Rallybio for up to $25 million.
  • REV102 targets ENPP1 enzyme to restore inorganic pyrophosphate balance for proper bone mineralization, potentially offering the first oral disease-modifying therapy for HPP patients.
  • The drug candidate is currently in IND-enabling studies with Phase 1 clinical trials expected to begin in the second half of 2026.
  • HPP affects over 7,800 diagnosed patients across the US and EU5, with many having limited access to current enzyme replacement therapies.

Hansa Biopharma Appoints Dr. Richard Philipson as Chief Medical Officer to Lead Next Development Phase

Rare Disease
  • Hansa Biopharma has appointed Dr. Richard Philipson as Chief Medical Officer effective July 14, bringing over 25 years of industry experience to the commercial-stage biopharmaceutical company.
  • Dr. Philipson's track record includes clinical leadership resulting in four product approvals, including rare disease and gene therapy treatments, with expertise spanning first-in-human to Phase 3 studies.
  • The appointment positions Hansa to advance its proprietary IgG-cleaving enzyme technology platform, including imlifidase for kidney transplantation and HNSA-5487 for autoimmune diseases.
  • Dr. Philipson will support upcoming regulatory submissions and help build strategic development plans for future indications across rare diseases, inflammation, and oncology.

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