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Actio Biosciences Receives FDA Clearance and Fast Track Designation for First-in-Class KCNT1 Epilepsy Treatment

Rare DiseasePrecision Medicine
  • The FDA has cleared Actio Biosciences' IND application and granted Fast Track designation for ABS-1230, a first-in-class oral KCNT1 inhibitor targeting rare pediatric epilepsy affecting approximately 2,500 individuals in the U.S.
  • ABS-1230 demonstrated the ability to inhibit all recurrently observed pathogenic KCNT1 mutations and rapidly suppress seizures in preclinical models, addressing the root cause of this devastating condition.
  • The company plans to initiate Phase 1 trials in healthy volunteers in fall 2025, followed by a proof-of-concept Phase 1b study in KCNT1-related epilepsy patients in early 2026.
  • KCNT1-related epilepsy is a severe and often fatal pediatric condition causing up to 20 seizures daily, with no current disease-modifying therapies available.

Viridian Therapeutics Secures $385 Million Deal with Kissei for Thyroid Eye Disease Therapies in Japan

Monoclonal AntibodyRare Disease
  • Viridian Therapeutics has entered into an exclusive licensing agreement with Kissei Pharmaceutical for veligrotug and VRDN-003 in Japan, receiving $70 million upfront with potential milestone payments up to $315 million.
  • Both drug candidates are anti-IGF-1R antibodies targeting thyroid eye disease, with veligrotug having demonstrated positive results in phase 3 THRIVE trials and VRDN-003 being a subcutaneous, half-life extended formulation.
  • The collaboration leverages Kissei's expertise in rare disease development and commercialization in Japan to address significant unmet medical needs for TED patients.
  • Viridian will also receive tiered royalties ranging from the 20s to mid-30s percent on net sales in Japan, while Kissei assumes all development and commercialization responsibilities.

FDA Grants Orphan Drug Designation to COAGADEX for Rare Bleeding Disorder Associated with AL Amyloidosis

Rare Disease
  • The FDA has granted Orphan Drug Designation to Kedrion Biopharma's COAGADEX for treating acquired Factor X deficiency, a rare blood disorder affecting fewer than one in one million people globally.
  • COAGADEX, already approved in 38 countries for hereditary Factor X deficiency, will be evaluated in a new clinical trial for patients with acquired deficiency caused by AL amyloidosis.
  • The condition occurs when amyloid fibrils bind to and reduce circulating Factor X levels, significantly increasing bleeding risk in affected patients.
  • Patient recruitment is underway for the trial, which will focus on moderate and severe forms of acquired Factor X deficiency with coagulant activity levels below 50% of normal.

EMA Recommends Approval of Aqneursa for Niemann-Pick Type C Disease Treatment

Drug ApprovalRare DiseaseOrphan Drug
  • The European Medicines Agency's Committee for Medicinal Products for Human Use has issued a positive opinion recommending approval of Aqneursa (levacetylleucine) for treating neurological manifestations of Niemann-Pick type C disease in adults and children.
  • The recommendation is based on Phase III trial data showing statistically significant improvement in neurological symptoms within 12 weeks, with patients demonstrating better SARA scores compared to placebo.
  • Aqneursa represents a potential new frontline treatment option for NPC patients in Europe, following its FDA approval in September 2024.
  • The drug targets underlying neurological dysfunction processes and can be used in combination with miglustat or as monotherapy when miglustat is not tolerated.

A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C

NCT05163288RecruitingPhase 3
IntraBio Inc
Posted 6/30/2022

NextCure's Anti-Siglec-15 Antibody NC605 Shows Promise for Osteogenesis Imperfecta Treatment in Preclinical Study

Monoclonal AntibodyRare Disease
  • NextCure's NC605, a novel anti-Siglec-15 antibody, demonstrated improved bone microarchitecture and reduced fracture incidence in preclinical studies of osteogenesis imperfecta mice.
  • The treatment showed superior bone quality outcomes compared to current anti-resorptive therapies by both inhibiting bone loss and producing new bone with increased quality and density.
  • NC605 represents a potential breakthrough for osteogenesis imperfecta patients, as there is currently no FDA-approved standard of care for this rare brittle bone disease.
  • NextCure is seeking financial support to advance NC605 toward an Investigational New Drug submission within 12 to 18 months.

Hillhurst Biopharmaceuticals Initiates Phase 2a Trial of Oral Carbon Monoxide Therapy for Sickle Cell Disease

Rare Disease
  • Hillhurst Biopharmaceuticals has dosed the first patient in a Phase 2a clinical trial evaluating HBI-002, an oral low-dose carbon monoxide therapy for sickle cell disease.
  • The open-label study will assess safety and tolerability while collecting biomarker and pharmacokinetic data to inform a larger Phase 2b trial planned for 2026.
  • HBI-002 represents a novel approach to treating sickle cell disease, targeting the prevention of painful vaso-occlusive crises in a condition with significant unmet medical need.
  • The therapy is designed for chronic home use and leverages Hillhurst's proprietary GLASS platform to deliver oral formulations of traditionally inhaled therapeutics.

UC Davis Researchers Develop Gene Therapy to Reactivate Silent Genes in Rett Syndrome

Rare Disease
  • UC Davis Health scientists led by Sanchita Bhatnagar have developed a novel gene therapy that reactivates silenced healthy genes in Rett syndrome by targeting microRNA-106a.
  • The therapy uses a DNA-based "sponge" molecule delivered via gene therapy vector to block miR-106a, allowing dormant healthy MECP2 genes to become active again.
  • In female mouse models of Rett syndrome, treated animals showed longer survival, improved movement and cognition, and significant improvements in breathing irregularities.
  • The approach could potentially treat other X-linked genetic conditions and represents a promising therapeutic strategy for a disorder that currently has no cure.

FDA Grants Breakthrough Therapy Designation to Avidity's Del-zota for Duchenne Muscular Dystrophy

Orphan DrugRare Disease
  • The FDA has granted Breakthrough Therapy designation to delpacibart zotadirsen (del-zota) for treating Duchenne muscular dystrophy in patients with mutations amenable to exon 44 skipping.
  • Del-zota demonstrated statistically significant increases in exon skipping, substantial dystrophin production increases, and significant creatine kinase reduction to near-normal levels in Phase 1/2 trials.
  • Avidity Biosciences remains on track for a planned Biologics License Application submission at year-end 2025, with topline data from the ongoing Phase 2 extension trial expected in Q4 2025.
  • The therapy represents a novel Antibody Oligonucleotide Conjugate approach that combines monoclonal antibody specificity with oligonucleotide precision to deliver treatment directly to muscle tissue.

Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping

NCT05670730CompletedPhase 1
Avidity Biosciences, Inc.
Posted 11/9/2022

Ph2 Open-label Study of AOC 1044 in Duchenne Muscular Dystrophy Participants With Mutations Amenable to Exon44 Skipping

NCT06244082Active, Not RecruitingPhase 2
Avidity Biosciences, Inc.
Posted 1/22/2024

Stanford Researchers Develop Radiation-Free Stem Cell Transplant Protocol for Fanconi Anemia Patients

Monoclonal AntibodyRare Disease
  • Stanford Medicine researchers successfully conducted stem cell transplants in three Fanconi anemia patients using the anti-CD117 antibody briquilimab, eliminating the need for toxic radiation or busulfan chemotherapy.
  • All three pediatric patients achieved nearly 100% donor cell engraftment after two years, far exceeding the initial 1% target, with no graft rejection or major complications.
  • The innovative protocol addresses donor shortage by allowing transplants from half-matched donors like parents through alpha/beta T-cell depletion techniques.
  • Researchers are now conducting phase 2 trials and exploring applications for other genetic diseases including Diamond-Blackfan anemia and elderly cancer patients.

Q3 2025 Biopharma Catalyst Monitor Highlights 18 Key FDA Decisions and Clinical Trial Milestones

Drug ApprovalRare Disease
  • A new quarterly report identifies 18 significant biopharma catalyst events expected in Q3 2025, including FDA approval decisions for multiple companies across diverse therapeutic areas.
  • Key regulatory milestones include potential approvals for Ascendis Pharma's Skytrofa for adult growth hormone deficiency, PTC Therapeutics' sepiapterin for phenylketonuria, and Lenz Therapeutics' presbyopia treatment LNZ100.
  • The report, based on key opinion leader interviews, also covers ongoing clinical trials for Eli Lilly's orforglipron for obesity and aTyr Pharma's efzofitimod for pulmonary sarcoidosis.
  • Industry experts will assess the commercial potential of these treatments and their impact on existing therapeutic landscapes across multiple disease areas.

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