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Rigosertib Achieves 80% Response Rate in First Clinical Trial for Rare RDEB-Associated Skin Cancer

Rare DiseaseOncologyOrphan Drug
  • Rigosertib demonstrated an 80% overall response rate with 50% complete responses in the first-ever clinical trial for RDEB-associated squamous cell carcinoma, published in the British Journal of Dermatology.
  • The trial addressed a critical unmet medical need in recessive dystrophic epidermolysis bullosa patients who develop aggressive skin cancers with cumulative death risks of 70% and 78.7% by ages 45 and 55, respectively.
  • Traws Pharma is actively seeking development and commercialization partners for rigosertib, a small molecule PLK-1 kinase inhibitor, as no approved therapies currently exist for this devastating condition.

Rigosertib in Patients With Recessive Dystrophic Epidermolysis Bullosa Associated SCC

NCT04177498CompletedEarly Phase 1
Thomas Jefferson University
Posted 8/24/2021

Rigosertib for RDEB-SCC

NCT03786237RecruitingPhase 1
Prof. Johann Bauer
Posted 4/12/2021

ImmunAbs Receives FDA Clearance for Phase 2 Trial of IM-101 Complement Inhibitor in Myasthenia Gravis

Monoclonal AntibodyFDA ApprovalRare Disease
  • ImmunAbs Inc. announced FDA clearance of its IND application to initiate a Phase 2 clinical trial evaluating IM-101, a novel complement C5 inhibitor, for treating Myasthenia Gravis.
  • The multicenter, randomized, double-blind, placebo-controlled study will enroll up to 90 patients to assess monthly IM-101 dosing effectiveness and safety.
  • IM-101 demonstrated excellent safety profile in Phase 1 trials with no dose-limiting toxicity and superior efficacy in complement inhibition compared to existing treatments.
  • The company believes comprehensive inhibition of both classical and alternative complement pathways is essential for achieving deeper therapeutic responses in MG patients.

KalVista's Sebetralstat Halts Hereditary Angioedema Attacks in Median 19.8 Minutes Across Clinical Trials

Rare Disease
  • KalVista Pharmaceuticals reported that sebetralstat, an investigational oral plasma kallikrein inhibitor, halted hereditary angioedema attack progression in a median time of 19.8 minutes across both KONFIDENT and KONFIDENT-S trials.
  • The drug demonstrated rapid efficacy in treating severe mucosal attacks, with patients achieving symptom relief in 1.3 hours for both abdominal and laryngeal attacks, and 96% of attacks resolved without requiring additional doses.
  • Clinical data showed sebetralstat effectively treated 76 severe or very severe HAE attacks that had progressed after delayed treatment, delivering symptom relief in a median of 1.36 hours.
  • The oral formulation represents a potential breakthrough as the first oral on-demand HAE treatment, with regulatory review ongoing and a FDA PDUFA goal date of June 17, 2025.

Sanofi Acquires Blueprint Medicines for $9.1 Billion to Strengthen Rare Disease and Immunology Portfolio

Rare DiseaseOrphan Drug
  • Sanofi will acquire Blueprint Medicines Corporation for $129.00 per share in cash, representing an equity value of approximately $9.1 billion, with additional contingent value rights potentially worth $9.5 billion total.
  • The acquisition adds Ayvakit/Ayvakyt (avapritinib), the only approved medicine for advanced and indolent systemic mastocytosis, which achieved net revenues of $479 million in 2024 with over 60% year-on-year growth.
  • Blueprint's pipeline includes elenestinib, a next-generation systemic mastocytosis treatment in phase 2/3 trials, and BLU-808, a wild-type KIT inhibitor with potential for broad immunological applications.
  • The transaction is expected to close in Q3 2025 and will be immediately accretive to gross margin and accretive to business operating income and EPS after 2026.

(HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis

NCT04910685RecruitingPhase 2
Blueprint Medicines Corporation
Posted 11/30/2021

FDA Denies Approval for Elamipretide Despite Dramatic Heart Function Improvements in Barth Syndrome Patients

Rare DiseaseDrug ApprovalOrphan Drug
  • The FDA denied approval for elamipretide, a drug treating Barth syndrome, despite an advisory committee's 10-6 recommendation for approval and documented heart function improvements from 20% to normal levels.
  • One-year-old Jaylen Karle experienced heart failure from birth due to Barth syndrome, but his heart function normalized within a month of starting elamipretide treatment in early 2024.
  • Barth syndrome affects approximately 150 people in the U.S., and families fear losing access to the experimental drug if FDA approval doesn't come within six months.
  • The FDA provided a pathway for accelerated approval, but advocates call the denial "unconscionable" given the drug's life-saving potential for this rare genetic disorder.

Beam Therapeutics and Capricor Secure FDA Orphan Drug Designations for Rare Disease Treatments

Rare DiseaseFDA Approval
  • Beam Therapeutics received FDA orphan drug designation for its sickle cell disease treatment, providing regulatory incentives for this rare genetic disorder affecting hemoglobin production.
  • Capricor Therapeutics obtained orphan drug designation for its Becker muscular dystrophy therapy, targeting this progressive muscle-wasting condition.
  • Both designations offer companies seven years of market exclusivity, tax credits, and reduced regulatory fees to encourage development of treatments for rare diseases affecting fewer than 200,000 patients in the United States.

Carlyle and SK Capital Complete $3-5 Per Share Acquisition of Gene Therapy Pioneer bluebird bio

Rare Disease
  • Carlyle and SK Capital Partners successfully acquired 59.8% of bluebird bio shares through a tender offer that expired May 29, 2025, meeting all conditions for the acquisition.
  • Shareholders received either $3.00 per share plus contingent value rights worth up to $6.84, or a flat $5.00 per share in cash.
  • The acquisition of the gene therapy company, which has secured FDA approvals for three therapies in under two years, is expected to close on June 2, 2025.
  • bluebird bio specializes in severe genetic diseases including sickle cell disease, β-thalassemia, and cerebral adrenoleukodystrophy with the largest ex-vivo gene therapy dataset in the field.

GC Biopharma's Hunterase Shows Significant Efficacy in Phase 3 Trial for Hunter Syndrome

Rare Disease
  • GC Biopharma's Phase 3 clinical trial results for Hunterase (idursulfase beta) in Hunter Syndrome patients have been published in Genetics in Medicine, demonstrating significant improvements in functional mobility and metabolic markers.
  • The study enrolled 24 newly diagnosed Hunter Syndrome patients and showed that Hunterase treatment resulted in patients walking an average of 62.2 meters more in the 6-Minute Walk Test, eight times greater improvement than placebo.
  • Secondary endpoints revealed substantial reductions in urinary GAG levels (71%), heparan sulfate (89%), dermatan sulfate (88%), and organ volumes, with liver and spleen volumes decreasing by 27% and 26% respectively.
  • The treatment demonstrated a favorable safety profile with only 19% of patients developing neutralizing antibodies, significantly lower than the 62.5% observed with existing treatments.

Illumina Launches PromoterAI Tool to Detect Disease-Causing Mutations in Previously Overlooked Genomic Regions

AIRare DiseasePrecision Medicine
  • Illumina has introduced PromoterAI, an AI tool that detects disease-causing mutations in noncoding promoter regions of the genome, areas typically overlooked in clinical diagnostics.
  • The breakthrough technology, featured in Science, could explain up to 6% of undiagnosed rare disease cases and potentially double diagnostic success when combined with existing AI tools.
  • PromoterAI analyzes promoter sequences using deep learning and is freely available for academic research through Illumina Connected Software, offering precomputed scores to prioritize harmful mutations.

CIRM Awards $4.7 Million to Advance AAV Gene Therapy for Blue Cone Monochromacy

Rare Disease
  • The California Institute for Regenerative Medicine awarded $4.7 million to Blue Gen Therapeutics Foundation to develop a novel AAV gene therapy for blue cone monochromacy, a rare inherited eye disease.
  • The funding supports preclinical research for a one-time intravitreal treatment designed to deliver a functional L-opsin gene copy to cone photoreceptor cells in the retina.
  • Blue cone monochromacy, typically diagnosed in infancy, causes low vision, light sensitivity, impaired color discrimination, and involuntary eye movements with current treatments limited to symptom management.
  • The project aims to restore red and green photoreceptor function disrupted by genetic mutations and advance toward FDA IND application for clinical trials.

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