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FDA Rejects Ultragenyx Gene Therapy for Sanfilippo Syndrome Over Manufacturing Concerns

Rare Disease
  • The FDA declined to approve Ultragenyx Pharmaceutical's experimental gene therapy UX111 for Sanfilippo syndrome, citing manufacturing and facility-related concerns rather than clinical efficacy issues.
  • The rejection comes as a setback for Ultragenyx's priority review voucher monetization strategy, which was expected to generate approximately $150 million per voucher before the program sunsets in September 2026.
  • UX111 showed promising clinical results in reducing toxic brain buildup and improving cognitive and communication skills in children with Sanfilippo syndrome type A, with the FDA raising no concerns about the clinical data.
  • The company plans to resubmit the application after addressing manufacturing issues, with a new review potentially taking up to six months once the revised application is filed.

FDA Issues Complete Response Letter for Ultragenyx's UX111 Gene Therapy for Sanfilippo Syndrome Type A

Rare Disease
  • The FDA issued a Complete Response Letter for Ultragenyx's UX111 AAV gene therapy, citing chemistry, manufacturing and controls (CMC) observations that the company believes are readily addressable.
  • Clinical data were deemed robust by the FDA, with no issues noted regarding the clinical data package or clinical inspections, supporting the therapy's potential efficacy.
  • The regulatory setback delays potential approval to 2026, but Ultragenyx plans to resubmit the BLA after resolving manufacturing facility-related observations within the next few months.
  • UX111 represents a potential first treatment for Sanfilippo syndrome type A, a rare fatal lysosomal storage disease affecting 3,000 to 5,000 patients globally with a median life expectancy of 15 years.

Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH

NCT02716246RecruitingPhase 2
Ultragenyx Pharmaceutical Inc
Posted 4/25/2016

Soleno Therapeutics Raises $200 Million to Fund Commercialization of First FDA-Approved Prader-Willi Syndrome Therapy

Drug ApprovalRare Disease
  • Soleno Therapeutics completed a $200 million public offering at $85 per share to fund commercialization of VYKAT XR, the first FDA-approved therapy for hyperphagia in Prader-Willi syndrome patients.
  • The company received FDA approval for VYKAT XR on March 26, 2025, marking a significant milestone for treating this rare genetic disorder.
  • Proceeds will also support regulatory and market development activities in the European Union and further research and development efforts.
  • The offering included 2,352,941 shares with underwriters holding a 30-day option to purchase an additional 352,941 shares at the same price.

Ultragenyx's Setrusumab Phase 3 Trial Continues After Interim Analysis Fails to Meet Early Termination Threshold

Rare DiseaseMonoclonal Antibody
  • Ultragenyx Pharmaceutical's Phase 3 Orbit study of setrusumab for osteogenesis imperfecta failed to meet the interim statistical threshold for early termination (p<0.01), leading to a 27% stock decline on July 6.
  • The Data Monitoring Committee confirmed setrusumab's excellent safety profile and allowed trials to continue, with final readouts expected by year-end 2025 using more lenient statistical thresholds.
  • Phase 2 results previously demonstrated a 67% reduction in fractures (p=0.0014), supporting the drug's potential for treating the rare bone disease affecting approximately 60,000 patients globally.
  • Osteogenesis imperfecta currently has zero approved therapies, representing a significant unmet medical need with potential peak sales estimated at $1.6 billion by Goldman Sachs.

Quince Therapeutics Strengthens Scientific Advisory Board with Leading Immunologist Ahead of Phase 3 Results

Rare Disease
  • Quince Therapeutics appointed Dr. Hassan Abolhassani, a top-cited immunologist from Karolinska Institutet, to its Scientific Advisory Board as the ninth expert member.
  • The appointment comes as the company prepares to report topline results from its pivotal Phase 3 trial of eDSP for Ataxia-Telangiectasia in Q1 2026.
  • Dr. Abolhassani brings specialized expertise in immunodeficiency disorders and Ataxia-Telangiectasia, supporting Quince's expansion into multiple rare disease indications.
  • The company is exploring eDSP for 11 additional rare diseases where corticosteroid treatment could be beneficial without safety concerns.

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

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