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FDA Places Clinical Hold on Rocket Pharmaceuticals' Danon Disease Gene Therapy After Patient Death

Rare Disease
  • The FDA has placed a clinical hold on Rocket Pharmaceuticals' Phase II gene therapy trial for RP-A501 after a patient developed capillary leak syndrome and subsequently died.
  • The patient experienced serious complications including fluid leaking from blood vessels into surrounding tissues, causing swelling and low blood pressure, followed by an acute systemic infection.
  • Rocket is investigating whether a novel immune suppression agent recently added to the pre-treatment regimen may have contributed to the adverse event.
  • The company's stock tumbled 63% in premarket trading, and analysts estimate the clinical hold could take weeks to months to resolve.

Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B

NCT03882437Active, Not RecruitingPhase 1
Rocket Pharmaceuticals Inc.
Posted 4/17/2019

A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease

NCT06092034RecruitingPhase 2
Rocket Pharmaceuticals Inc.
Posted 9/5/2023

Poxel's PXL065 Shows Promise in Preclinical Hypertrophic Cardiomyopathy Study, Data to be Presented at ESC 2025

Rare Disease
  • Poxel's PXL065, a deuterium-stabilized R-enantiomer of pioglitazone, demonstrated significant benefits in preventing pathological myocardial remodeling in a mouse model of hypertrophic cardiomyopathy.
  • The preclinical study showed PXL065 prevented hypertrophy and fibrosis in the heart, supporting its potential as a disease-modifying treatment for both symptomatic and asymptomatic HCM patients.
  • Results will be presented at the European Society of Cardiology Congress on September 1st, 2025, highlighting the compound's dual mechanism targeting mitochondrial dysfunction and oxidative stress.
  • The findings address a significant unmet medical need in HCM, which affects approximately 1 in 500 adults and currently has limited effective treatment options.

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.

A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIb AL Amyloidosis (CARES)

NCT04504825Active, Not RecruitingPhase 3
Alexion Pharmaceuticals, Inc.
Posted 8/25/2020

A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIa AL Amyloidosis (CARES)

NCT04512235Active, Not RecruitingPhase 3
Alexion Pharmaceuticals, Inc.
Posted 11/3/2020

A Study to Evaluate the Efficacy and Safety of Birtamimab in Mayo Stage IV Patients With AL Amyloidosis

NCT04973137TerminatedPhase 3
Prothena Biosciences Ltd.
Posted 8/30/2021

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.

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