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EMA Designates Allopurinol as First Orphan Drug for Marfan Syndrome

Orphan DrugRare Disease
  • The European Medicines Agency has designated allopurinol as the first orphan drug for Marfan syndrome, a rare connective tissue disease affecting approximately 7 in 100,000 people in the European Union.
  • Researchers from the University of Barcelona, IDIBAPS, and CIBERER have demonstrated allopurinol's potential to halt and prevent aortic aneurysms in animal models, with international clinical trials in patients planned for the future.
  • This repurposing of allopurinol, currently used for gout treatment, represents a significant advancement for Marfan syndrome patients who currently have no curative options beyond limited palliative treatments and high-risk surgical interventions.

Taiwan Approves Chugai's PiaSky as First Subcutaneous Treatment for Paroxysmal Nocturnal Hemoglobinuria

Rare DiseaseMonoclonal Antibody
  • Taiwan FDA has granted orphan drug approval for PiaSky, making it the first subcutaneous treatment for paroxysmal nocturnal hemoglobinuria (PNH) available in Taiwan for patients 13 years and older.
  • PiaSky, developed with Chugai's proprietary Recycling Antibody technology, allows for convenient subcutaneous administration every 4 weeks, significantly reducing treatment burden compared to existing biweekly intravenous options.
  • The approval was based on positive results from three Phase III clinical trials, including COMMODORE 2, which demonstrated efficacy in transfusion avoidance and control of hemolysis compared to eculizumab.

AKANTIOR® Receives UK Marketing Authorization as First Approved Treatment for Acanthamoeba Keratitis

Orphan DrugDrug ApprovalRare Disease
  • SIFI's AKANTIOR® (polihexanide 0.08%) has received both Marketing Authorization and Promising Innovative Medicine designation from the UK's MHRA, marking it as the first approved treatment for Acanthamoeba keratitis.
  • The approval confirms AKANTIOR's Orphan Drug Designation and New Active Substance status, recognizing its efficacy against an ultra-rare corneal infection that can lead to blindness if untreated.
  • Following its European approval in August 2024, this UK authorization represents a significant advancement for patients with this devastating eye infection, with SIFI planning to file for NICE reimbursement by June 2025.

FDA Approves 18 New Personalized Medicines in 2024, Marking Significant Shift in Treatment Paradigm

Drug ApprovalOncologyRare DiseaseAIReal World EvidencePrecision Medicine
  • The FDA approved 18 new personalized medicines in 2024, representing 38% of all newly approved therapeutic molecular entities across multiple treatment areas including cancer and Alzheimer's disease.
  • Six new gene and cell-based therapies for rare genetic diseases and cancers were authorized, alongside expanded indications for 11 diagnostic testing systems and the first-ever expanded indication for an approved gene therapy.
  • Personalized medicines now constitute at least 25% of drug approvals for the past decade, a substantial increase from less than 10% ten years ago, demonstrating the healthcare system's shift away from one-size-fits-all approaches.

Tessera Therapeutics Reports Breakthrough Gene Editing Results for Multiple Genetic Diseases

Rare DiseaseGene EditingCAR-T
  • Tessera's RNA Gene Writer technology achieved 76% and 70% editing efficiency in hepatocytes for alpha-1 antitrypsin deficiency and phenylketonuria respectively, with high specificity and durability in non-human primate studies.
  • Preclinical data for sickle cell disease demonstrated greater than 20% editing in long-term hematopoietic stem cells across multiple species, potentially reaching curative thresholds without requiring stem cell transplantation.
  • The company's proprietary lipid nanoparticle delivery system showed high liver specificity with no off-target activity detected, advancing the potential for in vivo gene editing therapies for multiple genetic disorders.

Eisai's Remitoro Clears Post-Marketing Surveillance Requirements for T-Cell Lymphoma Treatment in Japan

OncologyRare DiseaseTargeted Therapy
  • Japan's Ministry of Health has lifted the all-case surveillance requirement for Eisai's anticancer agent Remitoro after reviewing safety data from 111 patients and efficacy data from 85 patients with T-cell lymphoma.
  • Remitoro, a fusion protein combining IL-2 and diphtheria toxin, demonstrated an overall response rate of 16.5% across both peripheral and cutaneous T-cell lymphoma patients in the post-marketing study.
  • Common adverse reactions included elevated liver enzymes (22.5%), capillary leak syndrome (21.6%), and decreased platelet count (15.3%), confirming the safety profile in real-world clinical settings.

First Biologic Drug for Pulmonary Sarcoidosis in 50 Years Administered at Oxford Hospital

Rare DiseaseDrug Approval
• Infliximab, a TNF-α inhibitor, has become the first new drug approved for pulmonary sarcoidosis in over 50 years, following NHS England commissioning with NICE support.
• The biologic therapy, administered to the first patient at Oxford's John Radcliffe Hospital, offers potential to reduce reliance on broad immunosuppressants that often cause significant side effects.
• Professor Ling-Pei Ho, who led the Oxford Sarcoidosis Service and chaired the initial NHS England working policy group, played a key role in securing the drug's approval for this rare condition affecting 1 in 10,000 UK residents.

China Approves First Domestically Developed Enzyme Replacement Therapy for Gaucher Disease

Orphan DrugDrug ApprovalRare Disease
  • CANbridge Pharmaceuticals has received NMPA approval for velaglucerase-beta (Gaurunning), China's first domestically developed enzyme replacement therapy for Type I and III Gaucher disease in patients aged 12 and above.
  • The pivotal clinical trial demonstrated statistically significant reductions in spleen volume at both 60 U/kg (P<0.0001) and 30 U/kg (P<0.001) doses, meeting its primary efficacy endpoint.
  • Developed in collaboration with WuXi Biologics, Gaurunning represents a breakthrough in rare disease treatment in China, potentially improving accessibility and affordability for the estimated 3,000 Chinese Gaucher disease patients.

NICE Extends Access to Brineura for CLN2 Batten Disease While Seeking Long-term Solution

Rare DiseaseOrphan Drug
  • NICE has secured continued access to cerliponase alfa (Brineura) for current patients and those starting treatment before December 2025, despite not recommending it for routine NHS use due to cost concerns.
  • The enzyme replacement therapy, costing over £500,000 per patient annually, has demonstrated effectiveness in slowing CLN2 progression in the short term, but lacks sufficient long-term efficacy data.
  • NICE, NHS England, and manufacturer BioMarin continue negotiations to reach a sustainable pricing agreement that could extend access to all future patients with this rare, life-limiting condition.

Acquired Hemophilia A Pipeline Expands with 10+ Novel Therapies in Development

Monoclonal AntibodyRare Disease
  • Global Acquired Hemophilia A pipeline comprises over 10 companies developing innovative therapies across various clinical stages, according to DelveInsight's 2025 report.
  • Recent clinical advances include promising results for rituximab as a potential first-line therapy and Pfizer's positive Phase 3 AFFINE trial results for giroctocogene fitelparvovec gene therapy.
  • Key pharmaceutical players including Novo Nordisk, Sanofi, Pfizer, and Belief Biomed are advancing treatments ranging from gene therapies to monoclonal antibodies targeting this rare autoimmune bleeding disorder.

BeCoMe-9: A Clinical Study of BE-101 for the Treatment of Adults With Moderately Severe or Severe Hemophilia B

NCT06611436RecruitingPhase 1
Be Biopharma
Posted 12/4/2024

Study to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults

NCT04370054Active, Not RecruitingPhase 3
Pfizer
Posted 8/18/2020

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