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Servier Acquires KER-0193 for $450M to Target Fragile X Syndrome, Marking First Neurology Asset

Orphan DrugNeurologyRare Disease
  • Servier acquired KER-0193 from Kaerus Bioscience for up to $450 million, marking the company's first neurology asset acquisition as part of its 2030 strategy to establish a leading neurology franchise.
  • KER-0193 is an orally bioavailable small molecule targeting BK channels for Fragile X syndrome, the most common genetic cause of autism spectrum disorder, with no currently approved treatments available.
  • The drug has received FDA Orphan Drug and Rare Pediatric Drug Designations and successfully completed Phase 1 trials, with Phase 2 studies planned for 2026 in America and Europe.
  • Fragile X syndrome affects approximately 1 in 7,000 males and 1 in 11,000 females globally, representing a significant unmet medical need in neurodevelopmental disorders.

BioMarin Reports Positive Phase 3 Results for PALYNZIQ in Adolescent PKU Patients

Rare DiseaseOrphan Drug
  • BioMarin's Phase 3 PEGASUS trial demonstrated a 49.7% reduction in blood phenylalanine levels in adolescents aged 12-17 with PKU treated with PALYNZIQ compared to diet alone.
  • The study showed 45.2% of PALYNZIQ-treated adolescents achieved ≥50% reductions in phenylalanine levels after 72 weeks, versus only 5.9% in the diet-only group.
  • BioMarin plans to submit regulatory applications for adolescent label expansion in the second half of 2025, with approval anticipated by 2026.
  • The safety profile in adolescents was consistent with that observed in adults, with manageable adverse events and 5.6% serious adverse events leading to discontinuation.

FDA Expands Vonvendi Approval to Include Pediatric von Willebrand Disease Patients

Drug ApprovalRare Disease
  • The FDA has expanded approval of recombinant von Willebrand factor (Vonvendi) to include pediatric patients with von Willebrand disease for acute bleeding treatment and surgical procedures.
  • This marks the first non-plasma-derived VWF therapy available for children in the United States, offering more consistent pharmacokinetics and eliminating plasma-based therapy risks.
  • The approval also extends routine prophylactic use to adults with all types of VWD, previously limited to only severe Type 3 cases.
  • Clinical data showed most non-surgical bleeds in pediatric patients were effectively managed with a single infusion, with a half-life of 14.3 hours in children.

rVWF IN PROPHYLAXIS

NCT02973087CompletedPhase 3
Takeda
Posted 11/16/2017

A Study of Recombinant Von Willebrand Factor (rVWF) With or Without ADVATE in Children With Severe Von Willebrand Disease (VWD)

NCT02932618RecruitingPhase 3
Baxalta now part of Shire
Posted 11/6/2017

A Study of Recombinant Von Willebrand Factor (rVWF) in Pediatric and Adult Participants With Severe Von Willebrand Disease (VWD)

NCT03879135CompletedPhase 3
Baxalta now part of Shire
Posted 4/1/2019

uniQure's AMT-191 Gene Therapy Shows Sustained Enzyme Activity and ERT Discontinuation in Fabry Disease Phase I/IIa Trial

Rare DiseaseOrphan Drug
  • uniQure's AMT-191 gene therapy achieved 27- to 208-fold increases in α-galactosidase A enzyme activity above normal levels in all four patients in the first cohort of its Phase I/IIa trial.
  • All patients in the highest dose cohort successfully discontinued enzyme replacement therapy while maintaining stable plasma lyso-Gb3 biomarker levels through the study cutoff date.
  • The AAV5-based gene therapy demonstrated a manageable safety profile with sustained enzyme activity observed for up to 45 weeks in the first treated patient.
  • AMT-191 represents a potential paradigm shift in the $3.87 billion Fabry disease market by offering a one-time treatment alternative to lifelong enzyme replacement therapy.

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

NCT06270316RecruitingPhase 1
UniQure Biopharma B.V.
Posted 6/5/2024

Walden Biosciences Engages Former FDA Director to Advance WAL0921 Phase 2 Trial in Rare Kidney Diseases

Monoclonal AntibodyRare Disease
  • Walden Biosciences has engaged Norman Stockbridge, M.D., Ph.D., former FDA Director of Division of Cardiology and Nephrology, as a regulatory advisor for its rare kidney disease pipeline.
  • The company partnered with NephCure, a nonprofit patient advocacy organization, to enhance patient recruitment for its ongoing Phase 2 basket study of WAL0921.
  • WAL0921 is a first-in-class humanized monoclonal antibody targeting suPAR to treat rare chronic kidney diseases, with interim data expected in late 2025 and early 2026.
  • The Phase 2 study will enroll up to 96 subjects across multiple rare kidney disease cohorts, including FSGS, IgAN, and primary membranous nephropathy.

Biohaven Prepares for Potential First-in-Class Spinocerebellar Ataxia Drug Launch as FDA Decision Looms

Rare DiseaseDrug ApprovalOrphan Drug
  • Biohaven's Vyglxia could become the first approved treatment for spinocerebellar ataxia, a rare genetic brain disorder affecting movement and coordination, with FDA decision expected between October and December.
  • The company has established comprehensive launch infrastructure including patient hubs, insurance specialists, and sales teams, with CEO Vlad Coric stating they are "ready to ship on Day 1" following potential approval.
  • Approximately 400 patients are already receiving Vyglxia through expanded access programs, and the company estimates 6,000-7,000 of the 15,000 U.S. patients will be reachable at launch through specialized treatment centers.
  • Unlike previous competitive launches, Vyglxia faces no direct competition in the spinocerebellar ataxia market, positioning Biohaven for a streamlined commercial strategy with a sales team less than 10% the size used for their previous migraine drug.

Wave Life Sciences' RNA Editing Therapy Shows Therapeutic Promise in Alpha-1 Antitrypsin Deficiency Despite Mixed Investor Reception

Rare Disease
  • Wave Life Sciences' experimental RNA editing medicine WVE-006 successfully helped patients with alpha-1 antitrypsin deficiency produce therapeutically relevant levels of a critical protein their bodies cannot make.
  • The therapy achieved total AAT protein levels of 11.9-12.8 micromolars across different dosing regimens, meeting regulatory thresholds for approval while demonstrating no serious adverse events.
  • Despite the clinical success, Wave shares dropped nearly 20% as the results fell slightly short of heightened investor expectations for protein expression levels.
  • The findings validate RNA editing as a viable therapeutic approach and may benefit other companies developing similar treatments, including Korro Bio and Beam Therapeutics.

Andelyn Biosciences Partners with Tern Therapeutics for Late-Stage Manufacturing of CLN2 Batten Disease Gene Therapy

Rare Disease
  • Andelyn Biosciences has partnered with Tern Therapeutics to perform late-stage process performance qualification manufacturing of TTX-381, an investigational gene therapy for vision loss in CLN2 Batten disease.
  • TTX-381 is a one-time subretinal AAV gene therapy designed to deliver a functional copy of the TPP1 gene directly to retinal cells to restore enzyme activity and preserve vision.
  • CLN2 Batten disease affects 0.5 per 100,000 live births, with children experiencing rapid vision loss that can lead to complete blindness as early as age seven.
  • The collaboration leverages Andelyn's expertise in AAV vector manufacturing and proven PPQ batch production capabilities to advance this therapy toward potential commercial approval.

Savara Reports 50% Increase in Autoimmune PAP Patient Population, Plans December 2025 FDA Resubmission for MOLBREEVI

Rare DiseaseOrphan Drug
  • Savara's updated health claims analysis identifies approximately 5,500 autoimmune PAP patients in the U.S., representing a 50% increase from the company's previous 2023 estimate of 3,600 patients.
  • The revised analysis used a more comprehensive dataset with over three times the number of records compared to the previous study, suggesting improved awareness and diagnosis rates for this rare lung disease.
  • The company plans to resubmit its Biologics License Application for MOLBREEVI to the FDA in December 2025 with priority review request, following publication of positive Phase 3 IMPALA-2 trial results in the New England Journal of Medicine.
  • With no approved medicines currently available in the U.S. for autoimmune PAP, the increased patient population estimate reinforces the significant unmet medical need for this debilitating condition.

Lantern Pharma Receives FDA Guidance for Pediatric CNS Cancer Trial Targeting ATRT

Orphan DrugAIRare Disease
  • Lantern Pharma completed a Type C meeting with the FDA, receiving critical guidance on the regulatory pathway and trial design for a planned pediatric CNS cancer trial targeting Atypical Teratoid Rhabdoid Tumor (ATRT).
  • The FDA confirmed the potential incorporation of spironolactone as a combination agent with LP-184/STAR-001 to assess synergistic effects in enhancing efficacy against CNS cancers.
  • The company's ATRT program has received both Rare Pediatric Disease Designation and Orphan Drug Designation from the FDA, highlighting the urgent unmet medical need.
  • Lantern plans to submit an IND application amendment based on FDA guidance, with trial initiation targeted for Q1 2026.

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