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CDSCO Panel Approves Label Updates for Sanofi's Rare Disease Therapies Fabrazyme and Aldurazyme

Rare DiseaseDrug ApprovalOrphan Drug
  • India's CDSCO panel has approved prescribing information updates for Sanofi's Fabrazyme (agalsidase beta) for Fabry disease and Aldurazyme (laronidase) for Mucopolysaccharidosis I.
  • The Fabrazyme update aligns with global Company Core Data Sheet versions and requires additional EMA approval submission to CDSCO for further evaluation.
  • The Aldurazyme update harmonizes Indian prescribing information with the US Prescribing Information dated December 2023.
  • Both approvals were recommended during the Subject Expert Committee's Endocrinology and Metabolism meeting held on April 22, 2025.

Ruxoprubart Achieves Primary Endpoints in Phase 2 Trial for Paroxysmal Nocturnal Hemoglobinuria

Rare Disease
  • NovelMed's ruxoprubart, a novel complement-targeting immunotherapy, met all primary efficacy endpoints in interim Phase 2 trial results for adults with paroxysmal nocturnal hemoglobinuria at 12 weeks.
  • The therapy demonstrated clinically meaningful benefits including transfusion avoidance, increased hemoglobin levels, reduced lactate dehydrogenase, and increased PNH clone size.
  • These positive results represent a significant advancement in PNH treatment, offering potential for improved patient outcomes in this rare hematologic disorder.

Prothena Discontinues Birtamimab Development After Phase 3 Failure in AL Amyloidosis

Rare DiseaseMonoclonal Antibody
  • Prothena's Phase 3 AFFIRM-AL trial of birtamimab for AL amyloidosis failed to meet its primary endpoint of time to all-cause mortality (HR=0.915, p-value=0.7680).
  • The company has announced complete discontinuation of birtamimab development, including stopping the open-label extension trial, following the disappointing clinical results.
  • Prothena plans substantial organizational restructuring with workforce reductions and will provide detailed plans to decrease operating expenses in June 2025.

European Commission Approves First MEK Inhibitor for NF1-Associated Plexiform Neurofibromas in Adults and Children

Drug ApprovalRare DiseaseOrphan Drug
  • The European Commission has granted conditional approval for Ezmekly (mirdametinib), the first therapy approved for both adults and children with neurofibromatosis type 1-associated plexiform neurofibromas.
  • The approval is based on the ReNeu Phase 2b trial results showing objective response rates of 41% in adults and 52% in children, with median tumor volume reductions of approximately 40% in both populations.
  • Ezmekly is a selective MEK 1/2 inhibitor that blocks the RAF-MEK-ERK pathway, addressing a significant unmet need for patients with symptomatic, inoperable plexiform neurofibromas aged 2 years and above.
  • The drug demonstrated a manageable safety profile with the most common adverse reactions including dermatitis acneiform, diarrhea, and elevated blood creatine phosphokinase levels.

MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neurofibromatosis Type 1 Associated Plexiform Neurofibromas

NCT03962543Active, Not RecruitingPhase 2
SpringWorks Therapeutics, Inc.
Posted 9/29/2019

Chinese Base Editing Therapy Successfully Cures Thalassemia in Four Children

Rare Disease
  • Four children with thalassemia have been successfully cured using CS-101, a novel DNA base editing therapy developed by CorrectSequence Therapeutics in China, marking a significant breakthrough in genetic treatment.
  • The therapy uses a transformer base editor (tBE) to precisely correct disease-causing DNA mutations, with patients showing complete recovery in as little as five weeks after a single injection.
  • Clinical trials led by Professor Zhai Xiaowen at Fudan University Children's Hospital have demonstrated promising results, with the treatment now advancing to larger-scale trials in China, the US, and UK.

Ulefnersen Shows Unprecedented Recovery in Young Patients with Rare FUS-ALS

Rare DiseasePrecision MedicineNeurology
  • Columbia University researchers report that ulefnersen, an experimental drug, demonstrated remarkable efficacy in treating FUS-ALS, a rare genetic form of ALS affecting young people.
  • In a small case series of 12 patients, two showed exceptional responses, including one young woman who regained the ability to walk and breathe independently after treatment.
  • The therapy reduced neurofilament light, a biomarker of nerve damage, by up to 83% after six months, suggesting potential for not just slowing but reversing functional losses in early intervention.

Federal Circuit Upholds Pfizer's Victory in Gene Therapy Patent Dispute for Hemophilia Treatment

Rare Disease
  • The Federal Circuit has affirmed the Patent Trial and Appeal Board's decision invalidating two patents covering experimental gene therapy for hemophilia treatment, handing Pfizer a significant legal victory.
  • The invalidated patents were related to novel gene therapy approaches for hemophilia, highlighting the competitive landscape in developing advanced treatments for this rare bleeding disorder.
  • This ruling represents an important precedent in the gene therapy intellectual property space, potentially impacting future development and commercialization of similar therapeutic approaches.

Satellos Reports Promising Efficacy Signals for Novel DMD Treatment in Adult Patients

Rare Disease
  • Satellos Bioscience's investigational treatment for Duchenne muscular dystrophy (DMD) has demonstrated encouraging efficacy signals in adult patients, offering potential new options in a challenging therapeutic area.
  • The development comes amid setbacks in the DMD field, including Pfizer's withdrawal of its gene therapy fordadistrogene movaparvovec following a Phase III failure and a Phase II patient fatality.
  • The global DMD treatment market is projected to grow substantially from $2.3 billion in 2023 to $5.2 billion by 2033 across major markets, primarily driven by Elevidys and Santhera Pharmaceuticals' Agamree.

Eli Lilly Enters $1.3 Billion RNA Therapy Partnership to Expand Genetic Hearing Loss Pipeline

Rare Disease
  • Eli Lilly has formed a $1.3 billion partnership to develop RNA therapies targeting genetic hearing loss, significantly expanding their presence in this therapeutic area.
  • The collaboration aims to leverage RNA technology to address unmet needs in hearing disorders, potentially offering new treatment options for patients with genetic hearing impairments.
  • This strategic investment highlights the growing pharmaceutical interest in RNA-based approaches for previously untreatable conditions and reinforces Lilly's commitment to specialized therapeutic areas.

SETU Secures €159,589 Grant for Novel Gene Therapy Research in Fatal Childhood Canavan Disease

Rare Disease
• SETU has received €159,589 from ELA International to develop an enhanced gene therapy for Canavan disease, marking the first Irish project funded by this organization since 2015.
• The two-year research project, led by Dr. Lee Coffey, aims to introduce a high-performance version of the ASPA gene to address the fatal neurodegenerative disorder that primarily affects children.
• The research was personally motivated by Dr. Coffey's twin brother's sons being diagnosed with Canavan disease, demonstrating how personal experience can drive scientific innovation and global collaboration.

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