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New Genetic Findings Challenge Traditional Understanding of Coats' Disease

Rare Disease
  • Research led by Dr. David Abramson reveals that Coats' disease, traditionally considered unilateral, shows bilateral involvement when examined with fluorescein angiography, challenging long-held clinical beliefs.
  • Genetic testing identified a variation in the LTBP2 gene associated with Coats' disease, providing new insights into the condition's genetic underpinnings and supporting the concept that single genes can influence multiple diseases.
  • Treatment approaches combining laser photocoagulation and anti-VEGF therapy showed promising results in advanced cases, though researchers speculate effectiveness may be linked to specific telomere biology disorders.

Bristol Myers Squibb to Close Gene Therapy Manufacturing Facility in Libertyville, Illinois

Rare Disease
  • Bristol Myers Squibb has announced the closure of its viral vector production facility in Libertyville, Illinois, with operations being consolidated to Devens, Massachusetts, as part of a $2 billion cost-saving initiative.
  • The facility, which was acquired by Bristol Myers Squibb two years ago and previously used by Novartis to manufacture the gene therapy Zolgensma, will begin layoffs on July 1 according to state WARN reports.
  • Company representatives acknowledged the difficult decision to cease vector manufacturing at the Libertyville site, which they noted "has operated at the highest level for BMS Cell Therapy."

PharmaEssentia's Ropeginterferon Shows Promising Results in Phase 3 Trial for Essential Thrombocythemia

OncologyRare Disease
  • PharmaEssentia will present positive Phase 3 SURPASS-ET trial results showing ropeginterferon alfa-2b-njft achieved significantly higher durable clinical response rates compared to anagrelide (42.9% vs. 6.0%; p=0.0001) in essential thrombocythemia patients.
  • The trial demonstrated not only effective blood count control but also a measurable reduction in JAK2 mutation allele burden over 12 months, addressing an underlying disease mechanism that current treatments fail to target.
  • Ropeginterferon alfa-2b-njft (marketed as BESREMi® for polycythemia vera) could potentially offer a new second-line treatment option for essential thrombocythemia, a rare blood disorder characterized by excessive platelet production.

Ropeginterferon Alfa 2b for Early MyelofibrosisDIPSS Low/Intermediate-1 Risk Myelofibrosis

NCT05731245RecruitingPhase 2
National Taiwan University Hospital
Posted 2/8/2023

Ropeginterferon Alfa-2b (P1101) vs. Anagrelide in Essential Thrombocythemia Patients With Hydroxyurea Resistance or Intolerance

NCT04285086Active, Not RecruitingPhase 3
PharmaEssentia
Posted 8/25/2020

CHOP Researchers Develop Breakthrough AAV Vectors for Brain Gene Therapy at Lower Doses

Rare Disease
  • Researchers at Children's Hospital of Philadelphia have engineered new adeno-associated viral (AAV) vectors that can target brain cells at significantly lower doses than current therapies, potentially improving safety and reducing costs.
  • Two novel capsids were identified: AAV-Ep+ for Batten disease treatment and AAV-DB-3 for Huntington's disease, both showing robust efficacy in preclinical models and human neurons derived from stem cells.
  • The breakthrough could transform treatment for neurodegenerative disorders by enabling one-time precision therapies that require lower doses while maintaining therapeutic efficacy, with potential applications for other inherited disorders.

FDA Upgrades Xinnate's TCP-25 Trial for Epidermolysis Bullosa to Registrational Status

Rare Disease
  • Following a successful Type C meeting with the FDA, Xinnate's upcoming STEP trial for TCP-25 in Epidermolysis Bullosa patients has been upgraded to serve as a registrational trial.
  • TCP-25, an immunomodulatory peptide with dual-action capabilities targeting both inflammation and bacterial infection, previously received Orphan Drug Designation from the FDA for EB treatment.
  • The STEP trial, planned to begin in 2025, is designed as an international multicenter, randomized, double-blind, placebo-controlled study to assess TCP-25's efficacy and safety in dystrophic and junctional EB patients.

Real-World Data Confirms Trikafta's Long-Term Efficacy as Gold Standard in Cystic Fibrosis Treatment

Real World EvidenceRare Disease
  • New real-world evidence presented at ATS 2025 validates Trikafta (elexacaftor/tezacaftor/ivacaftor) as an effective long-term therapy for cystic fibrosis patients with at least one F508del mutation.
  • The study by Sutharsan and colleagues provides valuable insights into laboratory markers while demonstrating sustained clinical benefits across various outcomes in this patient population.
  • These findings further establish Trikafta's position as the gold standard treatment in long-term cystic fibrosis care, reinforcing its therapeutic value for patients.

Be Biopharma Initiates First-in-Human Trial of CRISPR-Based Gene Therapy for Haemophilia B

Orphan DrugRare Disease
  • Be Biopharma has dosed the first patient in the BeCoMe-9 Phase I/II trial of BE-101, marking the first clinical application of B Cell Medicines technology for haemophilia B treatment.
  • BE-101 uses CRISPR/Cas9 gene editing to insert the human Factor IX gene into patients' own B cells, designed to continuously secrete Factor IX without requiring preconditioning or immunosuppression.
  • The two-part trial will enroll up to 24 subjects with moderately severe to severe haemophilia B, with participants monitored for 52 weeks to evaluate safety and clinical activity.
  • The therapy has received FDA fast-track and orphan drug designations, positioning it as a potentially transformative treatment option for this rare 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

FDA Grants Orphan Drug Designation to Repair Biotechnologies' mRNA Therapy for Rare Cholesterol Disorder

Rare Disease
  • The FDA has granted Orphan Drug Designation to REP-0003, a novel mRNA therapy developed by Repair Biotechnologies for treating homozygous familial hypercholesterolemia (HoFH), a rare condition causing accelerated atherosclerosis.
  • REP-0003 works by selectively clearing harmful excess free cholesterol inside cells while preserving essential cholesterol, showing promising results in preclinical studies including plaque regression and improved liver function.
  • The designation provides Repair Biotechnologies with seven years of market exclusivity upon approval, tax credits for clinical trials, waived FDA fees, and potential fast-track pathways as they prepare for first human trials in 2026.

Prime Medicine Reports Breakthrough Clinical Data for First Prime Editing Therapy in Chronic Granulomatous Disease

Rare Disease
  • Prime Medicine's PM359, the first Prime Editing therapy administered to humans, demonstrated rapid restoration of NADPH oxidase activity in a patient with Chronic Granulomatous Disease, exceeding therapeutic thresholds.
  • A single infusion of PM359 achieved 66% DHR positivity by Day 30, significantly above the 20% threshold believed to be potentially curative, with faster engraftment than existing gene editing technologies.
  • The therapy showed an encouraging safety profile with no serious adverse events related to PM359, marking a significant milestone for Prime Editing technology as a potential one-time curative treatment for genetic diseases.

Ruxoprubart Shows Promising Phase II Results as Novel Monotherapy for Paroxysmal Nocturnal Hemoglobinuria

Rare Disease
  • NovelMed's Ruxoprubart demonstrated significant efficacy in a Phase II trial for treatment-naïve PNH patients, meeting all primary endpoints including complete transfusion avoidance and increased hemoglobin levels.
  • The drug's selective inhibition of the Alternative Pathway without affecting the Classical Pathway offers a potentially safer profile than existing treatments, which often carry Black Box warnings for infection risk.
  • With FDA Orphan Drug Designation already secured and plans to file for Breakthrough Therapy Designation, Ruxoprubart is positioned as a potential best-in-class therapy for PNH and other complement-mediated disorders.

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